Ataxia in Childhood: Epidemiological, Clinical and Neuroradiologic Features, and the Risk of Recurrence

Mohsen JAVADZADEH, Masoud HASSANVAND AMOUZADEH, Shaghayegh Sadat ESMAIL NEJAD, Ezatollah ABASI, Abbas ALIPOUR, Mohsen MOLLAMOHAMMADI

Iranian Journal of Child Neurology, Vol. 11 No. 3 (2017), 3 July 2017 , Page 1-6
https://doi.org/10.22037/ijcn.v11i3.13234

How to Cite This Article: Javadzadeh M, Hassanvand Amouzadeh M, Sadat Esmail Nejad Sh, Abasi E, Alipour A, Mollamohammadi M. Ataxia in Childhood:Epidemiological, Clinical and Neuroradiologic Features, and the Risk of Recurrence. Iran J Child Neurol.Summer 2017; 11(3):1-6.


Abstract

Objective

This study was conducted on the demographic data, clinical characteristics, electroencephalography, neuroradiological findings, and their impact on the recurrence of ataxia.

 Materials & Methods

A 3-yr retrospective review of 49 children with ataxia in Mofid Children Hospital, Tehran, Iran was conducted from Apr 2013 to Apr 2016.

The demographic, clinical and paraclinical data were recorded in pre-prepared

questionnaires. The patients were also classified in two groups of with or without recurrence and the results were compared. The diagnostic etiologies in our patients were classified as brain tumor, drug ingestion, encephalitis, postinfectious immune-mediated disorders, pseudoataxia, trauma, congenital malformations of the central nervous system and hereditary ataxias.

 Results

Forty-nine children with ataxia were enrolled. The mean age of the patients with a recurrence of ataxia was more than those without a recurrence.

Neurodevelopmental delay in patients with recurrence was more frequent than those without a recurrence. Abnormal findings in the neuroimaging were seen more in the patients with recurrence than those without recurrence. The most common cause of ataxia in patients with recurrence was hereditary ataxia and in patients without recurrence was a viral post infectious disorder.

 Conclusion

After a mean follow-up period of 16.36 months (range: 2-37 months), 9 cases (18.4%) showed recurrence. Older age, abnormal neuroimaging, and neurodevelopmental delay should be considered as the risk factors of recurrence of ataxia in children.

 

References

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Assessment of the Relationship between Body Mass Index and Gross Motor Development in Children

Sepideh AMOUIAN, Zahra ABBASISHAYE, Sakineh MOHAMMADIAN, Matin BAKHTIARI, Bahar PARSIANMEHR

Iranian Journal of Child Neurology, Vol. 11 No. 3 (2017), 3 July 2017 , Page 7-14
https://doi.org/10.22037/ijcn.v11i3.10737

How to Cite This Article: Amouian S, AbbasiShaye Z, Mohammadian S, Bakhtiari M, Parsianmehr B. Assessment of the Relationship between Body Mass Index and Gross Motor Development in Children. Iran J Child Neurol.Summer 2017; 11(3):7-14.

 

Abstract

Objective

Obesity is a growing epidemic and public health problem in children. The purpose of this study was to determine the effect of body mass index (BMI) on the gross motor development.

Materials & Methods

In this cross-sectional study conducted in 2012-13 in Gorgan, northern Iran, the gross motor development of 90 children 3-5 yr old in three groups of lean, normal and obese/overweight were evaluated by the ages and stages questionnaires (ASQ) and Denver 2 scale.

Results

Totally, 90 children were enrolled and their developmental level was assessed with two ASQ and Denver II indices. The mean and standard deviation of the ASQ scores of the children was 53.11± 11.06 and based on Denver index, 9 children (10%) were at developmental delay status, 15 (16.7%) in the caution conditions, and 53 (58.9%) at normal developmental status. The developmental level was lower in obese/overweight group comparing with other groups according to both Denver and ASQ and there was a significant difference between obese/overweight group and normal group based in Denver and ASQ, respectively. There was no significant difference between underweight and normal and obese and underweight groups.

Conclusion

Overweight and obesity could affect on the gross motor development. 

References

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7. Lynch BA, Finney Rutten LJ, Jacobson RM, Kumar S, Elrashidi MY, Wilson PM, et al. Health Care Utilization by Body Mass Index in a Pediatric Population. Acad Pediatr 2015;15:644-50.

8. Morano M, Colella D, Robazza C, Bortoli L, Capranica L. Physical self-perception and motor performance in normal-weight, overweight and obese children. Scand J Med Sci Sports 2011; 21: 465–73.

9. D’Hondt E, Gentier I, Deforche B, Tanghe A, De Bourdeaudhuij, Lenoir M. Weight Loss and Improved Gross Motor Coordination in Children as a Result of Multidisciplinary Residential Obesity Treatment. Obesity 2011; 19:1999–2005.

10. Tandon P, Thompson S, Moran L, Lengua L. Body Mass Index Mediates the Effects of Low Income on Preschool Children’s Executive Control, with Implications for Behavior and Academics. Child Obes 2015; 11: 569–76.

11. Datar A, Sturm R. Childhood overweight and elementary school outcomes. Int J Obes (Lond) 2006;30:1449–60.

12. Nervik D, Martin K, Rundquist P, Cleland J. The Relationship Between Body Mass Index and Gross Motor Development in Children Aged 3 to 5 Years. Ther 2011;23:144–48.

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14. Glascoe FP. Evidence-based approach to developmental and behavioural surveillance using parents’ concerns. Child Care Health Dev 2000;26:137-49.

15. Rydz, D, Shevell M, Majnemer A, Oskoui M. Developmental Screening. J Child Neurol 2005; 20,4.

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17. Rydz D, Srour M, Oskoui M, Marget N, Shiller M, Birnbaum R, et al. Screening for developmental delay in the setting of a community pediatric clinic: a prospective assessment of parent-report questionnaires. Pediatrics 2006 ;118:1178-86.

18. Elbers J, Macnab A, McLeod E, Gagnon F.The Ages and Stages Questionnaires: feasibility of use as a screening tool for children in Canada. Can J Rural Med 2008 ;13:9-14.

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28. Cawley J, Katharina Spiess C. Obesity and Developmental Functioning Among Children Aged 2-4 Years. Deutsches Institut für Wirtschaftsforschung 2008 ;786:1-12.

29. Siahkouhian M, Mahmoodi H, SalehiM. Relationship Between Fundamental Movement Skills and Body Mass Index in 7-To-8 Year-Old Children. World Appl Sci J 2011;15:1354-60.

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Drug-Induced Apnea in Children Admitted to Loghman Hakim Hospital, Tehran, Iran

Narges GHOLAMI, Fathi ALWASABI, Fariba FARNAGHI

Iranian Journal of Child Neurology, Vol. 11 No. 3 (2017), 3 July 2017 , Page 15-18
https://doi.org/10.22037/ijcn.v11i3.13065

How to Cite This Article: Gholami N,Alwasabi F, Farnaghi F. Drug-Induced Apnea in Children Admitted to Loghman Hakim Hospital, Tehran, Iran. Iran J Child Neurol. Summer 2017; 11(3):15-18.

Abstract

Objective

Environmental hazards, including poisons, can cause irreparable effects and even be fatal for children. Poisoning in children is common and serious, but often is preventable and treatable. This study aimed to evaluate the prevalence of drugs and chemical toxicity leading to apnea. In addition, we detected type of drug that induced apnea among children.

Materials & Methods

In a retrospective cross-sectional study from Apr 2012 to Apr 2013, sampled data of all hospitalized drug-induced apnea children were collected through hospital records.

Results

The most common cause of drug toxicity was methadone syrup (74%). The mortality rate was 3.1%; all of them due to methadone poisoning.

Conclusion

There was a high prevalence of apnea and poisoning of methadone in children.

Methadone poisoning should be considered in apnea.

 

References

1. Sheikh NA, Damodar G. Spectrum of Accidental Paediatric Poisoning at a Tertiary Care Centre in South India. Medico-Legal Update 2015;15(1):93-7.

2. Vasanthan M, James S, Shuba S, Abhinayaa J, Sivaprakasam E. Clinical profile and outcome of poisoning in children admitted to a tertiary referral center in South India. Indian J Child Health 2015;2(4):1-5.

3. Jepsen F, Ryan M. Poisoning in children. Current Paediatr 15(7):563-8.

4. Sharif MR, Nouri S. Clinical Signs and Symptoms and Laboratory Findings of Methadone Poisoning in Children. Iran J Pediatr 2015;25(1):e176.

5. Rudd RA, Aleshire N, Zibbell JE, Gladden RM. Increases in Drug and Opioid Overdose Deaths--United States, 2000-2014. MMWR Morbidity and Mortality Weekly Report 2016;64(50-51):1378-82.

6. Hein H, Puschel K, Schaper A, Iwersen-Bergmann S. [Accidental ingestion of methadone by children and suggestions for better prevention]. Archiv fur Kriminologie 2016;237(1-2):38-46.

7. Boutroy MJ. Drug-induced apnea. Biol Neonate 1994;65(3-4):252-7.

8. Farnaghi F, Hassanian-Moghaddam H, Faghihi Langroodi T. Fatal Poisoning and its Related Factors among Children Admitted in Loghman Hospital, 1995 -2004. Pajoohandeh J 2009;13(6):529-35.

9. Fariba Farnaghi, Narjes Jafari, Fatemeh-Fereshteh Mehregan. Methadone Poisoning among Children

Referred to Loghman-Hakim Hospital in 2009. Pajoohandeh J 2012;16(6):299-303.

10. Saleem A, Ejaz MS, Arif F, Hanifa A, Habib MI. Factors leading to acute accidental poisoning in children. Quarterly Medical Channel 2015.

11. Farnaghi F, Pournasir Z, Tehranchi S. Opioid Poisoning in Children: A Report of 90 Cases. J Pediatr Nephrol 2015;3(2):62-6.

Therapeutic Effects of Adrenocorticotropic Hormone ACTH in Children with Severely Intractable Seizure

Jafar NASIRI, Azam SARAJAN, Mehri SALARI, Maryam SEDGHI

Iranian Journal of Child Neurology, Vol. 11 No. 3 (2017), 3 July 2017 , Page 19-26
https://doi.org/10.22037/ijcn.v11i3.11079

How to Cite This Article: Nasiri J, Sarajan A, Salari M, Sedghi M. Therapeutic Effects of Adrenocorticotropic Hormone ACTH in Children with
Severely Intractable Seizure. Iran J Child Neurol. Summer 2017; 11(3):19-26.

Abstract

Objective

Treatment of intractable seizures other than spasms is difficult and controversial.

There are few studies on efficacy of adrenocorticotropic hormone (ACTH) in treatment of patients with intractable seizure.

Materials & Methods

Twenty-five patients with intractable seizure other than spasm including 14 boys and 11 girls with median age of 58 months referred to university clinics of Pediatric Neurology in Isfahan, Iran, during 2014-2015 were prospectively investigated. ACTH was administrated according to our protocol. All cases were followed regularly and assessed for response to treatment and probable side effects, 3 wk after beginning of ACTH therapy and three months after the ACTH therapy. EEG finding were recorded before and three months after the end of ACTH therapy. Statistical analysis using Freidman test and Wilcoxon signed – rank test were performed in order to compare seizure frequency and EEG changes, respectively.

Results

Mean A significant reduction (>80%) in seizure frequency in 11 cases (44%) and moderate reduction (50%-80%) in 7 (28%) after 3 wk of ACTH therapy.

Despite initial positive response, recurrence of seizure was observed in 7 out of 18 cases with favorable initial response within 3 months after ACTH therapy cessation. The comparison of EEG finding before and 3 months after ACTH therapy using Wilcoxon signed – rank test showed  significant differences.

Conclusion

ACTH therapy may be useful in treatment of children with intractable seizures who are resistant to usual antiepileptic drugs. However further studies should be performed to determine the long-term efficacy of ACTH in treatment of intractable seizure.

References

1. Dunin-Wąsowicz D, Mazurkiewicz-Bełdzińska M, Steinborn B, Wheless J, Jóźwiak S. Treatment of pediatric epilepsy in Poland. Eur J Paediatr Neurol 2015;19(3):320-6.

2. Oka E, Ohtsuka Y, Yoshinaga H, Murakami N, Kobayashi K, Ogino T. Prevalence of Childhood Epilepsy and Distribution of Epileptic Syndromes: A Population-based Survey in Okayama, Japan. Epilepsia 2006;47(3):626-30.

3. Beleza P. Refractory epilepsy: a clinically oriented review. Eur Neurol 2009; 62(2):65-71.

4. Pentella K, Bachman D, Sandman CA. Trial of an ACTH4-9 Analogue (ORG 2766) in children with intractable seizures. Neuropediatrics 1982;13(2):59-62.

5. Snead OC, Benton JW, Myers GJ. ACTH and prednisone in childhood seizure disorders. Neurology 1983;33(8):966-70.

6. Okumura A, Tsuji T, Kato T, Natsume J, Negoro T, Watanabe K. ACTH therapy for generalized seizures other than spasms. Seizure 2006;15(7):469-75.

7. Verhelst H, Boon P, Buyse G, Ceulemans B, D’Hooghe M, De Meirleir L, et al. Steroids in intractable childhood epilepsy: clinical experience and review of the literature. Seizure 2005;14(6):412-21.

8. Oguni H, Funatsuka M, Sasaki K, Nakajima T, Yoshii K, Nishimura T, et al. Effect of ACTH therapy for epileptic spasms without hypsarrhythmia. Epilepsia 2005;46(5):709-15.

9. Haberlandt E, Weger C, Sigl SB, Rauchenzauner M, Scholl-Bürgi S, Rostásy K, et al. Adrenocorticotropic hormone versus pulsatile dexamethasone in the treatment of infantile epilepsy syndromes. Pediatr Neurol 2010;42(1):21-7.

10. Inutsuka M, Kobayashi K, Oka M, Hattori J, Ohtsuka Y. Treatment of epilepsy with electrical status epilepticus during slow sleep and its related disorders. Brain Dev 2006;28(5):281-6.

11. Fujii A, Oguni H, Hirano Y, Osawa M. Atypical benign partial epilepsy: recognition can prevent pseudocatastrophe. Pediatr Neurol 2010;43(6):411-9.

12. Inui T, Kobayashi T, Kobayashi S, Sato R, Endo W, Kikuchi A, et al. Efficacy of long term weekly ACTH therapy for intractable epilepsy. Brain Dev 2015;37(4):449-54.

13. Kalra V, Sharma S, Arya R. ACTH therapy in refractory generalized epilepsy. Indian J Pediatr 2009;76(1):91-3.

14. Kurian M, Korff CM. Steroids in pediatric epilepsy: infantile spasms and beyond. Epileptologie 2011; 28(1):15-20.

15. Rogawski MA, DS R. Neurosteroids and infantile spasms: The deoxycorticosterone hypothesis. In: JMR PAS, editor. International Review of Neurobiology Volume 49: Academic Press; 2002. p. 199-219.

16. Snead OC. How does ACTH work against infantile spasms? Bedside to bench. Ann Neurol 2001;49(3):288-9.

17. Jacobson L, Sapolsky R. The Role of the Hippocampus in Feedback Regulation of the Hypothalamic-Pituitary- Adrenocortical Axis. Endocr Rev 1991;12(2):118-34.

18. Sinclair DB. Prednisone therapy in pediatric epilepsy. Pediatr Neurol 2003;28(3):194-8.

Circadian Rhythm and the Seasonal Variation in Childhood Febrile Seizure

reza SHARAFI, Afagh HASSANZADEH RAD, Vahid AMINZADEH

Iranian Journal of Child Neurology, Vol. 11 No. 3 (2017), 3 July 2017 , Page 27-30
https://doi.org/10.22037/ijcn.v11i3.10865

How to Cite This Article: Sharafi R, Hassanzadeh Rad A, Aminzadeh V. Circadian Rhythm and the Seasonal Variation in Childhood Febrile Seizure. Iran J Child Neurol. Summer 2017; 11(3):27-30.

 

Abstract

Objective

We aimed to assess the circadian rhythm and the seasonal variation in childhood febrile seizure (FS).

Materials & Methods

This descriptive cross-sectional study was conducted retrospectively on patients’ records. Investigators assessed the records of patients with simple FS aged 6 to 60 months referred to Emergency Department of 17-Shahrivar Hospital, Rasht northern Iran during Jan 2010 to Jan 2013. Data were gathered by a checklist including age, sex, temperature, duration of seizure, seasonal, months, diurnal variation, and level of consciousness.

Results

Totally, 349 patients including 193 (55.3%) boys and 156 (44.7%) girls with the mean age of 22.85±18.34 months were enrolled in this study. The mean temperature of patients was 38.45±0.53°C. The mean duration of seizure was 97.91±57 sec. Awake, drowsy and slept patients were noted in 170 (48.7%), 33 (9.5%) and 146 (41.8%) cases, respectively. Most of the FS occurred in winter 118 (33.8%), afternoon 132 (37.8%) and in Jan 55 (15.8%).

Conclusion

Body temperature adjusted by hypothalamus affecting by circadian rhythm. FS is the most common form of seizure in childhood occurred by multifactorial issues. Otherwise, the occurrence of seizure in patients with epilepsy may be affected by the circadian rhythm. Seizures happen more frequent at a specific time in 24 h during a day.

References

1. Dubé CM, Brewster AL, Richichi C, Zha Q, Baram TZ. Fever, febrile seizures and epilepsy. Trends Neurosci 2007; 30(10):490-6.

2. Patterson KP, Baram TZ, Shinnar S. Origins of temporal lobe epilepsy: febrile seizures and febrile status epilepticus. Neurotherapeutics 2014;11(2):242-50.

3. Racinais S, Fernandez J, Farooq A, Valciu S, Hynes R. Daily variation in body core temperature using radiotelemetry in aluminium industry shift-workers. J Thermal Biol 2012;37(4):351-4.

4. Scales WE, Vander AJ, Brown MB, Kluger MJ. Human circadian rhythms in temperature, trace metals, and blood variables. J Appl Physiol 1988;65(4):1840-6.

5. Martinez D, Lenz MD, Menna-Barreto L. Diagnosis of circadian rhythm sleep disorders. Jornal Brasileiro de Pneumologia 2008 34(3):173-80.

6. Azevedo CV, Sousa I, Paul K, MacLeish MY, Mondejar MT, Sarabia JA, et al. Teaching chronobiology and sleep habits in school and university. Mind Brain Edu 2008;2(1):34-47.

7. Ishihara K. Development of body temperature rhythm: 6 years follow up of three cases. Psychiatr Clin Neurosci 2001;55(3):229-30.

8. Torshin V, Vlasova I. Biorhythmologic aspects of seizure activity. Bulletin Exp Biol Med 2001;132(5):1025-8.

9. Uberos J, Augustin-Morales M, Molina Carballo A, Florido J, Narbona E, Muñoz-Hoyos A. Normalization of the sleep–wake pattern and melatonin and 6- sulphatoxymelatonin levels after a therapeutic trial with melatonin in children with severe epilepsy. J Pineal Res 2011; 50(2):192-6.

10. Ogihara M, Shirakawa S, Miyajima T, Takekuma K, Hoshika A. Diurnal variation in febrile convulsions. Pediatr Neurol 2010;42(6):409-12.

11. Manfredini R, Vergine G, Boari B, Faggioli R, Borgna- Pignatti C. Circadian and seasonal variation of first febrile seizures. J Pediatr 2004;145(6):838-9.

12. Panahandeh K, Harandi V, Esma’ili Jazanabadi F. Evaluation of seasonal variation and circadian rhythm of febrile seizures in children admitted to the pediatric ward of Rasoul-e-Akram hospital. Razi J Med Sci 2008; 15(59): 59-66.

13. Mikkonen K, Uhari M, Pokka T, Rantala H. Diurnal and seasonal occurrence of febrile seizures. Pediat Neurol 2015;52(4):424-7.

Treatment of Cystic Craniopharyngioma with Intracystic Stereotactic Instillation of Phosphorus 32

Sohrab SHAHZADI, Ahmad SOLTANI, Andia SHAHZADI, Khosrow PARSA

Iranian Journal of Child Neurology, Vol. 11 No. 3 (2017), 3 July 2017 , Page 31-36
https://doi.org/10.22037/ijcn.v11i3.11666

How to Cite This Article: Shahzadi S, Soltani A, Shahzadi A, Parsa Kh. Treatment of Cystic Craniopharyngioma with Intracystic Stereotactic Instillation of Phosphorus 32. Iran J Child Neurol. Summer 2017; 11(3):31-36.


Abstract

Objective

Cystic craniopharyngiomas are considered the most common intracranial nonglial tumor in children with the tendency for cyst formations. The aim of this study was to evaluate the effect of intracystic phosphorus 32 (P32) therapies on controlling the growth of the cystic component of craniopharyngioma.

Materials & Methods

This clinical study was conducted on 47 patients with cystic craniopharyngioma from March 1998 to June 2012 at Shohada Tajrish Hospital, Tehran, Iran.

Patients were treated with stereotactic intracystic P32. The mean cyst volume was 23.5 ml, and the dose of radiation to the inner cyst wall was 250 Gy.

Results

The overall response rate was 78.1% and the mean survival was 113.1±11months.

The survival rate at 1, 3, 5, and 10 years after p32 therapy was 91%, 77%, 73%, and 52%, respectively. There was no mortality related to the procedure and no visual or endocrinal deterioration. Visual improvement occurred in 88% of patients presented with recent deterioration due to the cyst enlargement.

Conclusion

Intracystic p32 therapy was an effective and almost safe procedure for the treatment of cystic component of craniopharyngioma.

 

References

1. Shahzadi S, Sharifi G, Andalibi R, Zali A, Ali-Asgari A. Management of cystic craniopharyngiomas with intracavitary irradiation with P32. Arch Iran Med 2008;11(1):30-4.

2. Komotar RJ, Roguski M, Bruce JN. Surgical management of craniopharyngiomas. J Neurooncol 2009;92(3):283- 96.

3. Garnett MR, Puget S, Grill J, Sainte-Rose C. Craniopharyngioma. Orphanet J Rare Dis 2007;2:18.

4. Dekkers OM, Biermasz NR, Smit JW, et al. Quality of life in treated adult craniopharyngioma patients. Eur J Endocrinol 2006;154(3):483-9.

5. Bartels U, Laperriere N, Bouffet E, Drake J. Intracystic therapies for cystic craniopharyngioma in childhood. Front Endocrinol (Lausanne) 2012;3:39.

6. Basso A, Socolovsky M, Goland J. Actualization of treatment options in Craniopharyngioma: a comparative analysis of different therapeutic modalities. The World Federation of Neurosurgical Societies (WFNS): Available From: http://www.wfns.org/pages/read_the_reviews/97. php?rid=4

7. Leng LZ, Greenfield JP, Souweidane MM, Anand VK, Schwartz TH. Endoscopic, endonasal resection of craniopharyngiomas: analysis of outcome including extent of resection, cerebrospinal fluid leak, return to preoperative productivity, and body mass index. Neurosurgery 2012;70(1):110-23.

8. Zhao R, Deng J, Liang X, Zeng J, Chen X, Wang J. Treatment of cystic craniopharyngioma with phosphorus-32 intracavitary irradiation. Childs Nerv Syst 2010;26(5):669-74.

9. Kobayashi T, Kageyama N, Ohara K. Internal irradiation for cystic craniopharyngioma. J Neurosurg 1981;55(6):896-903.

10. Trippel M, Nikkhah G. Stereotactic neurosurgical treatment options for craniopharyngioma. Front Endocrinol (Lausanne) 2012;3:63.

11. Fahlbusch R, Honegger J, Paulus W, et al. Surgical treatment of craniopharyngiomas: experience with 168

patients. J Neurosurg 1999;90(2):237-50.

12. Elliott RE, Hsieh K, Hochm T, et al. Efficacy and safety of radical resection of primary and recurrent

craniopharyngiomas in 86 children. J Neurosurg Pediatr 2010;5(1):30-48.

13. Müller HL, Gebhardt U, Teske C, et al. Post-operative hypothalamic lesions and obesity in childhood craniopharyngioma: results of the multinational prospective trial KRANIOPHARYNGEOM 2000 after 3-year follow-up. Eur J Endocrinol 2001;165(1):17-24.

14. Clark AJ, Cage TA, Aranda D, et al. Treatmentrelated morbidity and the management of pediatric craniopharyngioma: a systematic review. J Neurosurg Pediatr 2012;10(4):293-301.

15. Schoenfeld A, Pekmezci M, Barnes MJ, et al. The superiority of conservative resection and adjuvant radiation for craniopharyngiomas J Neurooncol 2012;108(1):133-9.

16. Jang WY, Lee KS, Son BC, et al. Repeat operations in pediatric patients with recurrent craniopharyngiomas. Pediatr Neurosurg 2009;45(6):451-5.

17. Barriger RB, Chang A, Lo SS, Timmerman RD, Des Rosiers C, Boaz JC, et al. Phosphorus-32 therapy for cystic craniopharyngiomas. Radiother Oncol 2011;98(2):207-12.

18. Tian ZM. Stereotactic intracavitary irradiation of huge cystic craniopharyngiomas. Zhonghua Wai Ke Za Zhi 1992;30(2):102-3.

19. Pollock BE, Lunsford LD, Kondziolka D, ad et al. Phosphorus-32 intracavitary irradiation of cystic craniopharyngiomas: current technique and long-term results. Int J Radiat Oncol Biol Phys 1995 ;33(2):437-46.

20. Voges J, Sturm V, Lehrke R, et al. Cystic craniopharyngioma: long-term results after intracavitary irradiation with stereotactically applied colloidal beta-emitting radioactive sources. Neurosurgery 1997;40(2):263-9.

21. Julow J, Backlund EO, Lányi F, et al. Long-term results and late complications after intracavitary yttrium-90 colloid irradiation of recurrent cystic craniopharyngiomas. Neurosurgery 2007;61(2):288-95.

22. Hasegawa T, Kondziolka D, Hadjipanayis CG, Lunsford LD. Management of cystic craniopharyngiomas with phosphorus-32 intracavitary irradiation. Neurosurgery 2004;54(4):813-20.

23. Anderson DR, Trobe JD, Taren JA, Gebarski SS. Visual outcome in cystic craniopharyngiomas treated with intracavitary phosphorus-32. Ophthalmology 1989;96(12):1786-92.

24. Kodama T, Matsukado Y, Uemura S. Intracapsular irradiation therapy of craniopharyngiomas with radioactive gold: indication and follow-up results. Neurol Med Chir (Tokyo) 1981;21(1):49-58.

25. Backlund EO, Axelsson B, Bergstrand CG, et al. Treatment of craniopharyngiomas--the stereotactic approach in a ten to twenty-three years’ perspective. I. Surgical, radiological and ophthalmological aspects. Acta Neurochir (Wien 1989;99(1-2):11-9.

26. Van den Berge JH, Blaauw G, Breeman WA, et al. Intracavitary brachytherapy of cystic craniopharyngiomas. J Neurosurg 1992;77(4):545-50.

 

Is Infantile Colic an Early Life Expression of Childhood Migraine?

Manijeh TABRIZI, Hamidreza BADELI, Afagh HASSANZADEH RAD, Vahid AMINZADEH, Ali SHOKUHIFARD

Iranian Journal of Child Neurology, Vol. 11 No. 3 (2017), 3 July 2017 , Page 37-41
https://doi.org/10.22037/ijcn.v11i3.13500

How to Cite This Article: Tabrizi M, Badeli H, Hassanzadeh Rad A,  Aminzadeh V, Shokuhifard A. Is Infantile Colic an Early Life Expression
of Childhood Migraine? Iran J Child Neurol. summer 2017; 11(3):37-41.

Abstract

Objective

Migraine is the most common childhood recurrent primary headache syndrome and infantile colic is a common cause of infantile cry. The pathogenesis of migraine and colic has not been well established and different factors may cause them. There is an association between infantile colic and the occurrence of childhood migraine. We aimed to assess whether infantile colic could be noted as an early life expression of childhood migraine or not.

Materials & Methods

This retrospective case-control study was conducted on 5-15-year-old children in Rasht, Iran during 2015-2016. Forty-one cases were children with migraine with or without aura. Overall, 123 Control participants were children with the same age referred to the pediatric clinic for routine care. Data were gathered by a checklist including age, sex, birth weight, family history of migraine, the occurrence of colic and type of feeding during infancy. Data were reported by descriptive statistics and analyzed by Fisher exact test using SPSS ver. 19.

Results

Overall, 164 children with the mean age of 8.36± 2.53 yr were enrolled.

Seventeen (41.46%) children with migraine vs. 44 (35.7%) children in control group had the positive history of infantile colic and Fisher exact test noted significant relation between migraine and colic. Thirty-three children with infantile colic (46.57%) had the positive family history of migraine, which was significantly higher than 27 children without colic (29.7%). There was a significant relation between infantile feeding and migraine.

Conclusion

There is a probable relation between colic and migraine, therefore, migraine and colic as 2 pain syndromes may have a common pathophysiology and further investigations on this common pathophysiology is justified.

References

1. Richer L, Billinghurst L, Linsdell MA, Russell K, Vandermeer B, Crumley ET, Durec T, Klassen TP, Hartling L. Drugs for the acute treatment of migraine in children and adolescents. The Cochrane Library. 2016, Issue 4. Art. No.: CD005220.

2. Green A, Kabbouche M, Kacperski J, Hershey A, O’Brien H. Managing Migraine Headaches in Children and Adolescents. Expert Rev Clin Pharmacol 2016;9(3):477-82.

3. Pärtty A, Kalliomäki M, Salminen S, Isolauri E. Infantile Colic Is Associated With Low-grade Systemic Inflammation. J Pediatr Gastroenterol Nutr 2017; 64(5):691-5.

4. Bhatia J, Greer F. Use of soy protein-based formulas in infant feeding. Pediatrics 2008;121(5):1062-8.

5. Shaukat A, Levitt MD, Taylor BC, MacDonald R, Shamliyan TA, Kane RL, Wilt TJ. Systematic review: effective management strategies for lactose intolerance. Ann Int Med 2010 ;152(12):797-803.

6. Heine RG. Cow’s-milk allergy and lactose malabsorption in infants with colic. J Pediatr Gastroenterol Nutr 2013;57:S25-S7.

7. Romanello S, Spiri D, Marcuzzi E, Zanin A, Boizeau P, Riviere S, et al. Association between childhood migraine and history of infantile colic. JAMA 2013;309(15):1607- 12.

8. Jan MM, Al-Buhairi AR. Is infantile colic a migraine related phenomenon? Clin Pediatr 2001;40(5):295.

9. Bruni O, Fabrizi P, Ottaviano S, Cortesi F, Giannotti F, Guidetti V. Prevalence of sleep disorders in childhood and adolescence with headache: a case-control study. Cephalalgia 1997;17(4):492-8.

10. Sillanpää M, Saarinen M. Infantile colic associated with childhood migraine: A prospective cohort study. Cephalalgia 2015;35(14):1246-51.

11. Epstein LG, Zee PC. Infantile colic and migraine. JAMA 2013;309(15):1636-7.

12. Guidetti V, Ottaviano S, Pagliarini M. Childhood headache risk: warning signs and symptoms present during the first six months of life. Cephalalgia 1984;4(4):237-42.

13. Ho TW, Edvinsson L, Goadsby PJ. CGRP and its receptors provide new insights into migraine pathophysiology. Nature Rev Neurol 2010;6(10):573- 82.

14. Engel MA, Becker C, Reeh PW, Neurath MF. Role of sensory neurons in colitis: increasing evidence for a neuroimmune link in the gut. Inflamm Bowel Dis 2011;17(4):1030-3.

15. Gelfand AA, Thomas KC, Goadsby PJ. Before the headache Infant colic as an early life expression of migraine. Neurology 2012;79(13):1392-6.

16. Hall B, Chesters J, Robinson A. Infantile colic: a systematic review of medical and conventional therapies. J Paediatr Child Health 2012;48(2):128-37.

17. Critch J. Infantile colic: Is there a role for dietary interventions? Paediatr Child Health 2011;16(1):47.

18. Magis D, Schoenen J. Treatment of migraine: update on new therapies. Current Opinion Neurology 2011;24(3):203-10.

19. Katerji MA, Painter MJ. Infantile migraine presenting as colic. J Child Neurol 1994;9(3):336-7.

Metabolic Screening in Children with Neurodevelopmental Delay, Seizure and/or Regression

Parvaneh KARIMZADEH, Mohammad Mahdi TAGHDIRI, Ezatollah ABASI, Masoud HASSANVAND AMOUZADEH, Zhila NAGHAVI, Ahad GHAZAVI, Mohammad Mahdi NASEHI, Abbas ALIPOUR

Iranian Journal of Child Neurology, Vol. 11 No. 3 (2017), 3 July 2017 , Page 42-47
https://doi.org/10.22037/ijcn.v11i3.14321

How to Cite This Article: Karimzadeh P, Taghdiri MM, Abasi E, Hassanvand Amouzadeh M, Naghavi Zh, Ghazavi A, Nasehi MM, Alipour A. Metabolic Screening in Children with Neurodevelopmental Delay, Seizure and/or Regression. Iran J Child Neurol. Summer 2017; 11(3):42-47.

 

Abstract

Objective

Neurometabolic disorder is one of the important groups of diseases that prominently has presentation early infantile period. In this study, we evaluated the result of metabolic screening of the patient with seizure, developmental delay and/or regression in development, demographic disease clinical and radiological findings on admitted and outpatient visited children.

Materials & Methods

Two-year retrospective review of 187 children with seizure, developmental delay and/or regression in the Mofid Children Hospital, Tehran, Iran was performed. The diagnosis was based on observation, findings of EEG and history of the patient, besides evaluation of patient milestones. The result of metabolic screening with Tandem mass spectrometry was evaluated using SPSS (ver.18.0) Statistical software.

Results

Totally, 187 children with seizure, regression and/or developmental delay were evaluated by metabolic screening with tandem mass spectrometry method. The results of laboratory examination had no relationship between positive results of metabolic screening and the mentioned disease. The relations between positive results of metabolic screening and seizure, regression and/or developmental delay were not statistically meaningful.

Conclusion

Positive results of metabolic screening and seizure, regression and/or developmental delay were not statistically meaningful. 

References

1. Piña-Garza JE. Altered States of Consciousness. In: Piña- Garza JE, editor. Fenichel’s clinical pediatric neurology. 7th ed. Philadelphia: Elsevier Saunders;2013.p.47-75.

2. Mohamed S, El Melegy EM, Talaat I, et al. Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia. Pediatr Neonatol 2015; 56(6):393-401.

3. Berry GT, Steiner RD. Long-term management of patients with urea cycle disorders. J Pediatr 2001;138(1 Suppl): S56-60.

4. Zupec-Kania B, Zupanc ML. Long-term management of the ketogenic diet: seizure monitoring, nutrition, and supplementation. Epilepsia 2008;49 Suppl 8:23-6.

5. Weisfeld-Adams JD, Bender HA, Miley-Åkerstedt A, et al. Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type. Mol Genet Metab 2013;110(3):241-7.

6. Eun SH, Hahn SH. Metabolic evaluation of children with global developmental delay. Korean J Pediatr 2015;58(4):117-22.

7. Patel KP, O’Brien TW, Subramony SH, Shuster J, Stacpoole PW. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. Mol Genet Metab 2012; 105(1):34-43.

8. Bjursell MK, Blom HJ, Cayuela JA, et al. Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. Am J Hum Genet 2011; 89(4): 507-15.

9. Bolduc ME, Du Plessis AJ, Sullivan N, and et al. Spectrum of neurodevelopmental disabilities in children with cerebellar malformations. Dev Med Child Neurol 2011; 53(5):409-16.

10. Bhardwaj P, Kaushal RK, Chandel A. Biotinidase deficiency: A treatable cause of infantile seizures. J Pediatr Neurosci 2010; 5(1):82-3.

11. López-Pisón J, García-Jiménez MC, Monge-Galindo L, et al. Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010. Neurologia 2014; 29(7):402-7.

12. Mikati MA, Hani AJ. Seizures in Childhood. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, editors. Nelson Textbook of Pediatrics. 20th ed. Philadelphia: Elsevier;2016.p.2823-56.

13. Korman SH, Jakobs C, Darmin PS, et al. Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel. Eur J Paediatr Neurol 2007; 11(2):81-9.

14. Eun SH, Hahn SH. Metabolic evaluation of children with global developmental delay. Korean J Pediatr 2015; 58(4):117-122.

15. Karimzadeh P, Ahmadabadi F, Jafari N, et al. Study on MRI Changes in Phenylketonuria in Patients Referred to Mofid Hospital/ Iran. Iran J Child Neurol 2014; 8(2):53- 56.

16. Karimzadeh P, Jafari N, Ahmad Abadi F, et al. Propionic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder. Iran J Child Neurol 2014; 8(1):58-61.

17. Karimzadeh P, Jafari N, Jabbehdari S, et al. Methylmalonicacidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder (An Iranian Pediatric Case Series). Iran J Child Neurol 2013; 7(3): 63-66.

18. Vanderver A, Wolf NI. Genetic and Metabolic Disorders of the White Matter. In: Swaiman KF, Ashwal S, Ferriero DM, Schor NF, editors. Swaiman’s Pediatric Neurology. 5th ed. Philadelphia: Elsevier Saunders;2012.p.1020-51.

19. Youssef-Turki I, Kraoua S, Smirani K, Mariem H, BenRhouma A, Rouissi , Gouider-Khouja N. Epilepsy Aspects and EEG Patterns in Neuro-Metabolic Diseases. J Behav Brain Sci 2011; 1(2).

20. Karimzadeh P, Ahmadabadi F, Jafari N, et al. Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series). Iran J Child Neurol 2013; 7(4):47-52.

21. Walterfang M, Bonnot O, Mocellin R, Velakoulis D. The neuropsychiatry of inborn errors of metabolism. J Inherit Metab Dis 2013; 36(4):687-702.

22. Wolf NI, Bast T, Surtees R. Epilepsy in inborn errors of metabolism. Epileptic Disord. 2005; 7(2):67-81.

23. Koul R1, Al-Yahmedy M, Al-Futaisi A. E v a l u a t i o n children with global developmental delay: a prospective study at sultan qaboos university hospital, oman. Oman Med J 2012; 27(4):310-3.

24. Alrifai MT, AlShaya MA, Abulaban A, Alfadhe M. Hereditary neurometabolic causes of infantile spasms in 80 children presenting to a tertiary care center. Pediatr Neurol 2014; 51(3):390-7.

Homocystinuria with Cerebral Venous Sinus Thrombosis: Excellent Recovery with Intravenous Recombinant Tissue Plasminogen Activator

Vykuntaraju K GOWDA, Raghunath C NANJUNDAPPA, Hima PENDHARKAR, Naveen BENAKAPPA

Iranian Journal of Child Neurology, Vol. 11 No. 3 (2017), 3 July 2017 , Page 48-52
https://doi.org/10.22037/ijcn.v11i3.10528

How to Cite This Article: Gowda VK, Nanjundappa RC, Pendharkar H, Benakappa N. Homocystinuria with Cerebral Venous Sinus Thrombosis: Excellent Recovery with Intravenous Recombinant Tissue Plasminogen Activator. Iran J Child Neurol. Summer 2017; 11(3):48-52.

 

Abstract

Hyperhomocysteinemia can cause cerebral venous thrombosis. Recombinant tissue plasminogen activator is one of the treatment options for cerebral venous thrombosis in selected cases. We present here a 7-year-old boy with homocysteinuria with stroke. MRI of brain showed cerebral venous sinus thrombosis. We successfully treated with intravenous recombinant tissue plasminogen activator. He recovered completely without any complications.

Recombinant tissue plasminogen activator can be considered one of the treatment options in cerebral venous thrombosis in homocystinura.

References

1. Fernando D. Testai, MD, PhD; Philip B. Gorelick, MD,MPH. Inherited Metabolic disorders and stroke part 2-Homocystinuria, organic acidurias, and urea cycle disorders. Arch Neurol 2010; 67 (2):148-153.

2. Herrmann E, Lorenzl S, Obeid R. Review of the role of hyperhomocysteinemia and B-vitamin deficiency in neurological and psychiatric disorders-current evidence and preliminary recommendations. Fortschr Neurol Psychiatr 2007; 75: 515-527.

3. Online Mendelian Inheritance in Man. Homocystinuria. http://www.ncbi.nlm.nih.gov/entrez/dispomim. cgi?id=236200. Accessed March 27, 2009.

4. udd SH, Skovby F, Levy HL, Pettigrew KD, Wilcken B, Pyeritz RE, et al. The natural history of homocysteinuria due to cystathionine beta synthase deficiency. Am J Hum Genet 1985; 37: 1-31.

5. Hacke W, Doonnan G, Fieschi C, Kaste M, von Kummer R, Broderick JP, et al. Association of outcome with early stroke treatment: Pooled analysis of ATLANTIS, ECASS, and NINDS rt –PA stroke trials. Lancet 2004; 363: 768-774.,

6. Roach ES, Golomb MR, Adams R, Biller J, Daniels S, Deveber G. et al. Management of stroke in infants and children: a scientific statement from a special writing group of the American Heart Association Stroke Council and the Council on cardiovascular disease in young. Stroke 2008; 39:2644-2691.

7. Soleau SW, Schmidt R, Stevens S, Osborn A, MacDonald JD. Extensive experience with dural sinus thrombosis. Neurosurgery 2003; 52: 534-544; discussion 542-544.

8. Janjua N, Nasar A, Lynch JK, Qureshi AI. Thrombolysis for ischemic stroke in children: data from the nationwide inpatient sample. Stroke 2007; 38:1850-1854.

9. Amlie-Lefond C, deVeber G, Chan AK, Benedict S, Bernard T, Carpenter J et al. Use of alteplase in childhood arterial ischaemic stroke: a multicentre, observational, cohort study. Lancet Neurol 2008; 8:530-536.

The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran

Samaneh NOROOZI ASL, Rahim VAKILI, Nosrat GHAEMI, Peyman ESHRAGHI

Iranian Journal of Child Neurology, Vol. 11 No. 3 (2017), 3 July 2017 , Page 53-56
https://doi.org/10.22037/ijcn.v11i3.13063

How to Cite This Article: Noroozi Asl S, Vakili R, Ghaemi N, Eshraghi P. The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran. Iran J Child Neurol. Summer 2017; 11(3):53-56.

 

Abstract

Niemann–Pick disease type C (NP-C) is a rare neurovisceral and irreversible disease leading to premature death and disabling neurological signs. This autosomal recessive disease with incidence rate of 1:120000 is caused by mutations in either the NPC1 or the NPC2 gene, which leads to accumulation of cholesterol in body tissues especially brain and progressive neurological symptoms. NP-C is characterized by nonspecific visceral, neurological and psychiatric manifestations in infants. The neurological involvement is typically proceeded by systemic signs (cholestatic jaundice in the neonatal period or isolated spleno-or hepatosplenomegaly in infancy or childhood).

Early detection of NPC is important so that therapy with miglustat can delay onset of neurological symptoms and prolong survival. We describe here three infants from Birjand, South Khorasan, eastern Iran in 2016 with splenomegaly and different neurological signs that diagnosis was confirmed by genetic study. In all of them, NPC-509 was pathologically increased. They also had an unreported homozygous mutation (c. 1415T>C, p.Leu472Pro) in exon 9 of the NPC1 gene. We found unreported homozygous mutation in NPC gene.

Knowing this mutation is significant to our people. Genotype-phenotype correlations for this specific mutation needs to be further studied.

 

References

1. Mengel E, Klunemann H, Lourenco C, and et al. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis 2013;8:166.

2. Vanier MT: Niemann-Pick disease type C. Orphanet J Rare Dis 2010;5:16.

3. Di Rocco M1, Dardis A, Madeo A, Barone R, Fiumara A. Early miglustat therapy in infantile Niemann-Pick disease type C. Pediatr Neurol 2012;47(1):40-3.

4. Karimzadeh P, Tonekaboni SH, Ashrafi MR, et al. Effects of Miglustat on Stabilization of Neurological Disorder in Niemann–Pick Disease Type C Iranian Pediatric Case Series. J Child Neurol 2013;28(12):1599-606.

5. Wijburg F, Sedel F, Pineda M et al. Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C. Neurology 2012;78(20):1560-7.

6. Wraith JE, Imrie J. New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat. Ther Clin Risk Manag 2009;5:877-87.

7. Patterson M, Hendriksz Ch, Walterfang M, et al. Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update. Mol Genet Metab 2012;106(3):330-44.

8. Margaret M, Destinck DJ. Lipidosis(Lysosomal storage disease). Nelson Textbook of Pediatrics. 19th ed.

Philadelphia: WB Saunders Company. 2011:488-9.

9. Patterson M.C, Mengel E, Wijburg F, et al. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis 2013;8:12.

Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene

Soudeh GHAFOURI-FARD, Feyzollah HASHEMI-GORJI, Majid FARDAEI, Mohammad MIRYOUNESI

Iranian Journal of Child Neurology, Vol. 11 No. 3 (2017), 3 July 2017 , Page 57-60
https://doi.org/10.22037/ijcn.v11i3.10521

How to Cite This Article: Ghafouri-Fard S, Hashemi-Gorji F, Fardaei M, Miryounesi M. Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene. Iran J Child Neurol. Summer 2017; 11(3):57-60.

 

 

Abstract

Autosomal recessive limb-girdle muscular dystrophies (LGMD type 2) are a group of clinically and genetically heterogeneous diseases with the main characteristics of weakness and wasting of the pelvic and shoulder girdle muscles. Among them are sarcoglycanopathies caused by mutations in at least four genes named SGCA, SGCB, SGCG and SGCD. Here we report a consanguineous Iranian family with two children affected with LGMD type 2E.

Mutation analysis revealed a novel homozygous exon 2 deletion of SGCB gene in the patients with the parents being heterozygous for this deletion. This result presents a novel underlying genetic mechanism for LGMD type 2E.


References

1. Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V et al. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord 2008;18(1):34-44.

2. Bushby KM, Beckmann JS. The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limbgirdle muscular dystrophies, Naarden, April 12-14, 2002. Neuromuscul Disord 2003;13(1):80-90.

3. Zatz M, de Paula F, Starling A, Vainzof M. The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord 2003;13(7-8):532-44.

4. Araishi K, Sasaoka T, Imamura M, Noguchi S, Hama H, Wakabayashi E et al. Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice. Hum Mol Genet 1999;8(9):1589-98.

5. Pegoraro E, Hoffman EP. Limb-girdle muscular dystrophy overview. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. 2012.

6. Straub V, Bushby K. The childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol 2006;13(2):104-14.

7. Kaindl AM, Jakubiczka S, Lucke T, Bartsch O, Weis J, Stoltenburg-Didinger G, et al. Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. Hum Mut 2005;26(3):279- 80.

8. Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C et al. Revised spectrum of mutations in sarcoglycanopathies. European journal of human genetics. Europ J Hum Gene 2008;16(7):793- 803.

9. Rivas E, Teijeira S, dos Santos MR, Porrit I, Leturcq F, Fernandez JM et al. Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family. Acta Myol 2004;23(3):159-62.

10. Barresi R, Di Blasi C, Negri T, Brugnoni R, Vitali A, Felisari G et al. Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations. J Med Gene 2000;37(2):102-7.

Semi Lobar Holoprosencephaly with Vertebral Segmentation Defects

Birendra RAI, Farhana SHARIF

Iranian Journal of Child Neurology, Vol. 11 No. 3 (2017), 3 July 2017 , Page 61-65
https://doi.org/10.22037/ijcn.v11i3.6639

How to Cite This Article: Rai B, Sharif F. Semi Lobar Holoprosencephaly with Vertebral Segmentation Defects. Iran J Child Neurol. Summer 2017; 11(3):61-65.

 

Abstract

Holoprosencephaly is the most common embryonic brain defect. Foetuses who survive during intrauterine life are born with varying grades of brain and facial deformities. Extra craniofacial manifestations are common. Vertebral segmentation defects are rarely seen with holoprosencephaly, mainly in association with holoprosencephaly diencephalic hamartoblastoma (HDH) association. A female infant was born at term by normal delivery. Birth head circumference was below the 3rd percentile. Antenatal scan had showed microcephaly as the only abnormality. Physical examination revealed microcephaly, ocular hypotelorism, left ear skin tag and short neck. MRI of the brain showed semilobar holoprosencephaly. Neck radiograph revealed gross vertebral segmentation defect involving cervical and upper thoracic vertebrae.

She had initial feeding difficulties. She showed severe global developmental delay and had underlying central diabetes insipidus. Vertebral segmentation defect is rare in holoprosencephaly.

References

1. Shiota K, Yamada S, Komada M, et al. Embryogenesis of holoprosencephaly. Am J Med Genet A 2007; 43A(24):3079-87.

2. Verloes A, Gillerot Y, Langhendries JP, et al. Variability versus heterogeneity in syndromal hypothalamic  hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome. Am J Med Genet 1992 Jul 1;43(4):669-77

3. Guimiot F, Marcorelles P, Aboura A, et al. Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. Am J Med Genet A 2009; 149A(6):1108-15.

4. Castori M, Douzgou S, Silvestri E, et al. Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association. Am J Med Genet A 2007; 143(3):277- 84.

5. Croen LA, Shaw GM, Lammer EJ. Holoprosencephaly: epidemiologic and clinical characteristics of a California population. Am J Med Genet 1996; 64(3):465-72.

6. Christèle Dubourg, Claude Bendavid, Laurent Pasquier, et al. Holoprosencephaly. Orphanet J Rare Dis 2007; 2: 8. Published online 2007 February 2.

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Zinc and Copper Metabolism and Risk of Autism: a reply to Sayehmiri et al

Keith FLUEGGE

Iranian Journal of Child Neurology, Vol. 11 No. 3 (2017), 3 July 2017 , Page 66-69
https://doi.org/10.22037/ijcn.v11i3.12011

How to Cite This Article: Fluegge K. Zinc and copper metabolism and risk of autism: a reply to Sayehmiri et al. Iran J Child Neurol. Summer 2017; 11(3):66-69.

Abstract

Objective

Sayehmiri et al. recently conducted a meta-analysis to explore the relationship between zinc and copper metabolism and autism spectrum disorders (ASD).

Recent reports have elucidated a full behavioral profile of mice exposed to prenatal zinc deficiency and documented a phenotype similar to that found in autism spectrum disorders (ASD). These studies suggest that significant alterations in Zn metabolism may be an important nutritional component in the development of ASD.

Materials & Methods

The idea that prenatal zinc deficiency may be to blame is cursorily challenged. Epidemiological studies show that high-income countries with a low estimated prevalence of inadequate zinc intake report the highest prevalence of ASD.

Consistent with other reports indicating a link between air pollution and ASD, it has recently been proposed that use of the herbicide, glyphosate, in agriculture may serve as an instrumental variable in predicting later neurodevelopmental impairment via emissions of the agricultural air pollutant, nitrous oxide (N2O).

Results

Work in anesthesiology has demonstrated the neurological effects from subanesthetic doses of N2O, including its inhibition of the alpha 7 nicotinic acetylcholine receptor (α7), a receptor coupled to both central nitric oxide (NO) metabolism and peripheral anti-inflammation.

Conclusion

This correspondence explores how the aforementioned nutritional phenotypes found by Sayehmiri et al. in their systematic review may be a compensatory mechanism to counter the effects (namely, α7 inhibition) of air pollutant exposures occurring during the most critical stages of fetal development.

 

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