Neurodegeneration with Brain Iron Accumulation: An Overview

Seyed Hassan TONEKABONI*, Mohsen MOLLAMOHAMMADI

Iranian Journal of Child Neurology, Vol. 8 No. 4 (2014), 2 December 2014 , Page 1-8
https://doi.org/10.22037/ijcn.v8i4.7574

How to Cite This Article: Tonekaboni SH, Mollamohammadi M. Neurodegeneration with Brain Iron Accumulation: An Overview. Iran J Child Neurol. 2014 Autumn;8(4): 1-8.

Abstract
Objective
Neurodegeneration with brain iron accumulation (NBIA) is a group of neurodegenerative disorder with deposition of iron in the brain (mainly Basal Ganglia) leading to a progressive Parkinsonism, spasticity, dystonia, retinal degeneration, optic atrophy often accompanied by psychiatric manifestations and cognitive decline. 8 of the 10 genetically defined NBIA types are inherited as autosomal recessive and the remaining two by autosomal dominant and X-linked dominant manner. Brain MRI findings are almost specific and show abnormal brain iron deposition in basal ganglia some other related anatomical
locations. In some types of NBIA cerebellar atrophy is the major finding in MRI.

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Prevalence of Epilepsy in Iran: A Meta-Analysis and Systematic Review

Kourosh SAYEHMIRI*, Hamed TAVAN, Fateme SAYEHMIRI, Iman MOHAMMADI, Kristin V. CARSON

Iranian Journal of Child Neurology, Vol. 8 No. 4 (2014), 2 December 2014 , Page 9-17
https://doi.org/10.22037/ijcn.v8i4.5880

How to Cite This Article: Sayemiri K, Tavan H, Sayemiri F, Mohammadi I, Carson KV. Prevalence of Epilepsy in Iran : A Meta-Analysis and Systematic Review. Iran J Child Neurol. 2014 Autumn; 8(4):9-17.

Abstract
Objective
Epilepsy is one of the most common diseases in Iran contributing to an array of health problems. In light of this, the aim of the present study is to examine the prevalence of epilepsy in Iran through a systematic review and meta-analysis.

Materials & Methods
A systematic search of several databases including PubMed, scientific information databases, Google, Google scholar, Elsevier and Scopus was conducted in June 2013. Observational studies were considered for inclusion if
they were published in Iranian and examined epilepsy prevalence and/or related risk factors. Meta-analysis was conducted using a random effect model with the DerSimonian/Laird method. Heterogeneity was examined using the Breslow- Day test and inconsistency using the I2 statistic.

Results
A total of 45 studies were identified from the search strategy. Of these, nine published manuscripts with a total of 7,723 participants were included within the review. The pooled prevalence of epilepsy in Iran was estimated to be around 5% (95% confident interval (CI) 2 to 8). For each region the prevalence of epilepsy in central, northern and eastern Iran were 5% (95%CI 2 to 8), 1% (95%CI -1 to 3) and 4% (95%CI 3 to 11) respectively. The most common risk factors in order of prevalence were somatic diseases 39% (95%CI 15 to 62),
convulsion 38% (95%CI 11 to 65), mental diseases 36% (95%CI 15 to 95) and hereditary development 26% (95%CI 9 to 42). A meta-regression model identified a declining trend in the prevalence of epilepsy within Iran for the last decade.

Conclusion
Pooled analyses from the nine included publications in this review estimate the prevalence of epilepsy in Iran to be around 5%. Although this result is much higher than rates in other countries, a declining trend in prevalence over the past
decade was also identified. 

References

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10. Etemadifar M, Mirabdolbaghe P. Demographic and clinical characteristics of young epilepsy mortalities in Isfahan. Two quarterly of south pediatric, Persian golf center of health researches in Boushehr University of Medical Sciences. 2005; 2: 160-164.

11. Najafi MR, Rezaei F, Vakili Zarch N, Dehghani F, Barakatein M. Survey of pattern of personality and psychopathology in patients with Grandmal and complex
partial epilepsy and comparison with control group. Journal of Shaheed Sadoughi University of Medical Sciences. 2010; 2:84-91.

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Journal of Tabriz University of Medical Sciences. 2001; 50: 23- 27.

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M, Norouzian M. Prevalence of epilepsy and co morbidity of psychiatric disorders in Iran. Seizure. 2006; 15: 476-482.

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with Refractory Epilepsy. J Babol University Med Sci (4):2010; 12: 61-66.

15. Kaheni S, Riyasi HR, Rezvani Kharashad MR, Sharifzadeh Gh, Nakhaei S. Prevalence of epilepsy in children at primary schools and awareness of teachers about epilepsy at primary schools of Birjand at 2010. Novel cares, Quarterly of science journal of nursing and midwifery in Birjand University of Medical Sciences. 2011; 3:135-142.

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Cinnarizine versus Topiramate in Prophylaxis of Migraines among Children and Adolescents: A Randomized, Double-Blind Clinical Trial

Mahmoud Reza ASHRAFI, Zeinab NAJAFI, Masih SHAFIEI, Kazem HEIDARI, Mansoureh TOGHA*

Iranian Journal of Child Neurology, Vol. 8 No. 4 (2014), 2 December 2014 , Page 18-27
https://doi.org/10.22037/ijcn.v8i4.5624

How to Cite This Article: Ashrafi MR, Najafi Z, Shafiei M, Heidari K, Togha M. Cinnarizinev ersus Topiramate in Prophylaxis of Migraines among Children and Adolescents: A Randomized, Double-Blind Clinical Trial. Iran J Child Neurol. 2014 Autumn;8(4): 18-27.

 

Abstract

Objective

Migraines, a common health problem in children and adolescents, still do not have an FDA approved preventive treatment for patients under the age of 18 years. This study compares and contrasts the efficacy and safety of cinnarizine and topiramate in preventing pediatric migraines.

Materials & Methods

In this randomized, double-blind clinical trial 44 migrainous (from 4–15 years of age) were equally allocated to receive cinnarizine or topiramate. The primary efficacy measure was monthly migraine frequency. Secondary efficacy measures were monthly migraine intensity and ≥ 50% responder rate. Efficacy measures were recorded at the baseline and at 4, 8, and 12 weeks of treatment.

Results

During the double-blind phase of the study, monthly migraine frequency and intensity were significantly decreased in both the cinnarizine and topiramate groups when compared to the baseline. However, at the end of the study, the cinnarizine group exhibits a significant decrease from the baseline in the mean monthly migraine intensity when compared to the topiramate group (4.7 vs. 3, respectively; 95% CI = -0.8 to -3.2).

Conclusion

No significant difference between cinnarizine and topiramate was found for the prevention of pediatric migraines. Both treatments were well tolerated.

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Cognitive Outcomes for Congenital Hypothyroid and Healthy Children: A Comparative Study

Mahtab ORDOOEI, Hadi MOTTAGHIPISHEH, Razieh FALLAH*, Azar RABIEE

Iranian Journal of Child Neurology, Vol. 8 No. 4 (2014), 2 December 2014 , Page 28-32
https://doi.org/10.22037/ijcn.v8i4.4804

How to Cite This Article: Ordooei M, MottaghiPisheh H, Fallah R, Rabiee A. Cognitive Outcomes for Congenital Hypothyroid and
Healthy Children: A Comparative Study. Iran J Child Neurol. 2014 Autumn;8(4): 28-32.

Abstract

Objective

Early diagnosis and treatment of congenital hypothyroidism (CH) and the prevention of developmental retardation is the main goal of public health national screening programs. This study compares the cognitive ability of children with CH diagnosed by neonatal screening with a healthy control group (2007) in Yazd, Iran.

Materials & Methods

In a case-controlled study, the intelligent quotient (IQ) of 40 five-year-old children with early treated CH and good compliance were evaluated by the Wechsler preschool and primary scale of intelligent test and compared to 40 healthy age and gender matched children as controls.

Results

22 boys (55%) and 18 girls (45%) in both groups were evaluated. In children with CH, 19 (47.5%) and 21 (52.5%) persons had transient and permanent hypothyroidism, respectively.

Range of TSH and T4 level at the onset of diagnosis were 11.41–81 mu/l and 1.50–14.20 μg/dl, respectively.The intelligence levels of all children with CH were within the average or normal range and IQs ranged from 91–108.

Children with CH had lower full-scale IQs (107.25 ± 2. 9 versus 110.50 ± 2.66, p=0.001), verbal IQ (106.95 ± 3.5 versus 109.90 ± 3.44, P-value=0.001) and performance IQ (106.3 ± 3.68 versus 108.87 ± 3.70) than the control group.However, no statistically significant differences were observed for mean IQ scores in permanent and transient CH.

Conclusion

Children with CH who had early treatment and good compliance had normal cognitive abilities, but may have a decreased IQ relative to the healthy control group.

References

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  7. Bargagna S, Canepa G, Costagli C, Dinetti D, Marcheschi M, Millepiedi S, et al. Neuropsychological follow-up in early-treated congenital hypothyroidism: a problemoriented approach. Thyroid 2000; 10:243-9.
  8. van der Sluijs Veer L, Kempers MJ, Maurice-Stam H, Last BF, Vulsma T, Grootenhuis MA. Health- related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening. Child Adolesc Psychiatry Ment Health 2012; 6:32.
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  10. Bongers-Schokking JJ. Influence of timing and dose of thyroid hormone replacement on mental, psychomotor, and behavioral development in children with congenital hypothyroidism. J Pediatr 2005; 147:768-74.
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  15. Alvarez González MA, Carvajal Martínez F, Pérez Gesén C, Olivares Torres A, Fernández Yero JL, Robaina Alvarez R, et al. Prognosis of cognition in congenital hypothyroidism following early treatment. Double effect hypothesis. Rev Neurol 2004, 16-31; 38:513-7. [Article in Spanish]
  16. Boileau P, Bain P, Rives S, Toublanc JE. Earlier onset of treatment or increment in LT4 dose in screened congenital hypothyroidism: which as the more important factor for IQ at 7 years? Horm Res 2004; 61:228-33.
  17. Salerno M, Militerni R, Bravaccio C, Micillo M, Capalbo D, Di MS, Tenore A. Effect of different starting doses of levothyroxine on growth and intellectual outcome at four years of age in congenital hypothyroidism. Thyroid 2002; 12:45-52.
  18. Dimitropoulos A, Molinari L, Etter K, Torresani T, Lang- Muritano M, Jenni OG, Largo RH, Latal B. Children with congenital hypothyroidism: long-term intellectual outcome after early high-dose treatment. Pediatr Res 2009; 65:242-8.
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  20. Kempers MJ, van der Sluijs Veer L, Nijhuis-van der Sanden MW, Kooistra L, Wiedijk BM, Faber I, et al.Intellectual and motor development of young adults with congenital hypothyroidism diagnosed by neonatal screening. J Clin Endocrinol Metab2006; 91:418-24.
  21. Rovet JF. Children with congenital hypothyroidism and their siblings: do they really differ? Pediatrics 2005;115:e52-7.
  22. Kempers MJ, van der Sluijs Veer L, Nijhuis-van der Sanden RW, Lanting CI, Kooistra L, Wiedijk BM, et al. Neonatal screening for congenital hypothyroidism in the Netherlands: cognitive and motor outcome at 10 years of age. J Clin Endocrinol Metab2007; 92:919-24.
  23. Azizi F, Afkhami M, Sarshar A, Nafarabadi M. Effects of transient neonatal hyperthyrotropinemia on intellectual quotient and psychomotor performance. Int J Vitam Nutr Res 2001; 71:70-3.
  24. Salerno M, Militerni R, Di Maio S, Bravaccio C, Gasparini N, Tenore A. Intellectual outcome at 12 years of age in congenital hypothyroidism. Eur J Endocrinol 1999; 141:105-10.
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A Comparison of Risperidone and Buspirone for Treatment of Behavior Disorders in Children with Phenylketonuria

Afshin FAYYAZI, Elham SALARI*, Ali KHAJEH, Abdi GAJARPOUR

Iranian Journal of Child Neurology, Vol. 8 No. 4 (2014), 2 December 2014 , Page 33-38
https://doi.org/10.22037/ijcn.v8i4.5471

How to Cite This Article: Fayyazi A, Salari E, Khajeh A, Ghajarpour A. A Comparison of Risperidone and Buspirone for Treatment of
Behavior Disorders in Children with Phenylketonuria. Iran J Child Neurol. 2014 Autumn; 8(4):33-38.

Abstract

Objective

Many patients with late-diagnosed phenylketonuria (PKU) suffer from severe behavior problems. This study compares the effects of buspirone and risperidone on reducing behavior disorders in these patients.

Materials & Methods

In this crossover clinical trial study, patients with severe behavior disorders after medical examination were randomly divided into two groups of two 8-week crossover treatments with risperidone or buspirone. Patient behavioral disorders before and after treatment by each drug was rated by parents on the Nisonger Child Behavior Rating Form (NCBRF), and after treatment by each drug, were assessed by a physician through clinical global impression (CGI).

Results

Thirteen patients were able to complete the therapy period with these two medications.

The most common psychiatric diagnoses were intellectual disability accompanied by pervasive developmental disorder NOS, and intellectual disability accompanied by autistic disorder. Risperidone was significantly effective in reducing the NCBRF subscales of hyperactivity disruptive/ stereotypic, and conduct problems. Treatment by buspirone only significantly decreased the severity of hyperactivity, but other behavior aspects showed no significant differences. Assessment of the severity of behavior disorder after treatment by risperidone and buspirone showed significant differences in reducing hyperactivity and masochistic/stereotype.

Conclusion

Although buspirone is effective in controlling hyperactivity in patients with PKU, it has no preference over risperidone. Therefore, it is recommended as an alternative to risperidone.

References

  1. Smith I, Nowles JK. Behaviour in early treated phenylketonuria: a systematic review. Eur J Pediatr 2000;159:89-93.
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Validation of Urinary Glycosaminoglycans in Iranian patients with Mucopolysaccharidase type I: The effect of urine sedimentation characteristics

Mohammad ABDI, Mohammad Said HAKHAMANESHI, Mohammad Reza ALAEI, Namam-Ali AZADI, Rahim VAKILI, Daniel ZAMANFAR, Mohammad TAGHIKHANI*, Shohreh KHATAMI*

Iranian Journal of Child Neurology, Vol. 8 No. 4 (2014), 2 December 2014 , Page 39-45
https://doi.org/10.22037/ijcn.v8i4.5914

How to Cite This Article:Abdi M, Khatami Sh, Hakhamaneshi MS, Alaei MR, Azadi NA, Zamanfar D, Taghikhani M.Validation of Urinary Glycosaminiglycans in Iranian Patients with Mucopolysaccharidose Type I: The Effect of Urine Sedimentation Characteristics. Iran J Child Neurol. 2014; 8(4):39-45.

 

Abstract

Objective

The first line-screening test for mucopolysaccharidosis is based on measurement of urinary glycosaminoglycans. The most reliable test for measurement of urine glycosaminoglycans is the 1,9-dimethyleneblue colorimetric assay. Biological markers are affected by ethnical factors, for this reason, the World Health Organization recommends that the diagnostic test characteristics should be used to determine results for different populations. This study determines the diagnostic value of 1,9-dimethyleneblue tests for diagnosis of mucopolysaccharidosis type I patients in Iran.

Materials & Methods

In addition to routine urine analysis, the qualitative and quantitative measurements of urine glucosaminoglycans were performed with the Berry spot test and 1,9-dimethyleneblue assay. Diagnostic values of the tests were determined using the ROC curve.

Results

Urine total glycosaminoglycans were significantly higher in male subjects than in female subjects. Glycosaminoglycan concentration was markedly decreased in specimens with elevated white blood cell and epithelial cells count. Using a cut-off level of 10.37 mg/g creatinine, sensitivity, and specificity were 100% and 97.22%, respectively, for a 1,9-dimethyleneblue colorimetric assay.

Conclusion

Urine glycosaminoglycans concentration significantly differs in our studied population. In addition to determine diagnostic validity of the 1,9-dimethyleneblue test, our results demonstrate the usefulness of measuring glycosaminoglycans for early screening of mucopolysaccharidosis type I Iran.

 

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Neonatal Meningitis: Risk Factors, Causes, and Neurologic Complications

Nasrin KHALESSI, Ladan AFSHARKHAS*

Iranian Journal of Child Neurology, Vol. 8 No. 4 (2014), 2 December 2014 , Page 46-50
https://doi.org/10.22037/ijcn.v8i4.5309

How to Cite This Article: Khalessi N, Afsharkhas L. Neonatal Meningitis: Risk Factors, Causes and Neurologic Complications.
Iran J Child Neurol. 2014 Autumn;8(4): 46-50.

Abstract
Objective
Neonates are at greater risk for sepsis and meningitis than other ages and in spite of rapid diagnoses of pathogens and treatments, they still contribute to complications and mortality. This study determines risk factors, causes, and
neurologic complications of neonatal meningitis in  ospitalized neonates.
Material & Methods
In this descriptive, cross sectional study, we evaluated 415 neonates with sepsis and meningitis admitted to the neonatal intensive care unit at our center between 2008 and 2012. The data that was recorded was age, sex, birth weight, prenatal
risk factors, clinical features, blood and cerebrospinal fluid analysis, and brain sonographic findings and outcomes.
Results Twenty patients had meningitis. Eleven cases (55%) were male. The mean age was 8. 41 days and mean birth weight was 2891.5±766 grams. Poor feeding, seizures, and tachypnea were detected in 12 (60%), 11 (55%), and 6 (30%)
patients, respectively. Prenatal risk factors were prolonged rupture of membranes, maternal vaginitis, asymptomatic bacteriuria, prematurity, low birth weights, and asphyxia. Four patients had positive cerebrospinal fluid cultures with klebsiella pneumoniae 2 (50%), Enterococcus spp. 1 (25%), and Group B streptococcus 1 (25%) cases, respectively. Two cases had positive blood cultures with klebsiella pneumoniae. Neurologic complications were brain edema, subdural effusion,
and brain abscesses with hydrocephaly. One neonate (5%) died.
Conclusion
Our study provides some information about risk factors, pathogens, and neurologic complications for neonatal meningitis. Prenatal assessments help to diagnose and reduce risk factors of this hazardous disease. 


References

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Frequency of Meningitis in Children Presenting with Febrile Seizures at Ali- Asghar Children’s Hospital

Azita TAVASOLI, Ladan AFSHARKHAS*, Abdolmajid EDRAKI

Iranian Journal of Child Neurology, Vol. 8 No. 4 (2014), 2 December 2014 , Page 51-56
https://doi.org/10.22037/ijcn.v8i4.6069

How to Cite This Article: Tavasoli A, Afsharkhas L, Edraki A. Frequency of Meningitis in Children Presenting with Febrile Seizure in Ali-Asghar Children’s Hospital. Iran J Child Neurol. 2014 Autumn; 8(4):51-56.

Abstract
Objective
Febrile seizures (FS) are the most common type of childhood seizures, affecting 2–5% of children. As the seizure may be the sole presentation of bacterial meningitis in febrile infants, it is mandatory to exclude underlying meningitis in children presenting with fever and seizure. To determine the frequency of meningitis in children with FS and related risk factors, the present study was conducted at Ali-Asghar Children’s Hospital.

Materials & Methods
The records of children aged from 1-month–6 years of age with fever and seizure admitted to the hospital from October 2000–2010 were studied. The charts of patients who had undergone a lumbar puncture were studied and cases of meningitis were selected. The related data was collected and analyzed with SPSS version 16.

Results
A total of 681 patients with FS were known from which 422 (62%) lumbar punctures (LP) were done. Meningitis (bacterial or aseptic) was identified in 19 cases (4.5%, 95% CI 2.9–6.9 by Wilson- Score internal) and bacterial meningitis in 7 (1.65%, 95% CI 0.8–3.3). None of the patients with bacterial meningitis had meningeal irritation signs. Complex FS, first attack of FS, and impaired consciousness were more common in patients with meningitis when compared to non- meningitis patients.

Conclusion
Meningitis is more common in patients less than 18 months presenting with FS; however, complex features of seizures, first attack of FS, or impaired consciousness seem significant risk factors for meningitis in these children and an LP should be considered in this situation. 

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Renal Function in Children with Febrile Convulsions

Ladan AFSHARKHAS, Azita TAVASOLI*

Iranian Journal of Child Neurology, Vol. 8 No. 4 (2014), 2 December 2014 , Page 57-61
https://doi.org/10.22037/ijcn.v8i4.5876

How to Cite This Article: Afsharkhas L, Tavasoli A. Renal Function in Children with Febrile Convulsions.Iran J Child Neurol. 2014 Autumn;8(4):57-61.

Abstract
Objective
Febrile convulsions (FC) are the most frequent seizure disorder in children.
Some studies have detected serum electrolyte disturbances in patients with FC.
This study determines serum electrolytes, renal function tests, and frequency of urinary tract infection in hospitalized children with FC.

Materials & Methods
In this descriptive, cross sectional study, we evaluated 291 children with FC admitted to the Neurology ward of Ali-Asghar Children’s Hospital from 2008–2013. Data was recorded on age, sex, type (simple, complex), and recurrence of seizures, family history of FC and epilepsy, serum electrolytes, renal function tests, and urinary tract infections.

Results
A total of 291 patients with diagnosis of FC were admitted to our center. Of these 291 patients, 181 (62.2%) were male. The mean age was 24.4 ± 14.6 months.
There were simple, complex, and recurrent FCs in 215 (73.9%), 76 (26.1%) and 61 (21%) of patients, respectively. Urinary tract infections (UTI) were found in 13 (4.5%) patients, more present in females (p-value = 0.03) and under 12 months of age (p-value = 0.003). Hyponatremia, hypocalcemia, and hypokalemia was detected in 32 (11%), 16 (5.5%), and 4 (1.4%) of cases, respectively. Twentyfour (8.2%) patients had a glomerular filtration rate less than 60 ml/min/1.73m2.
There were no abnormalities in serum magnesium, BUN, and creatinine levels.

Conclusion
During FCs, mild changes may occur in renal function but a serum electrolyte evaluation is not necessary unless patients are dehydrated. In children with FC, urinary tract infections should be ruled out.

 

References

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Pregabalin in childhood epilepsy: a clinical trial study

Mohsen MOLLAMOHAMMADI*, Seyed Hassan TONEKABONI, Zahra PIRZADEH, Mostafa VAHEDIAN

Iranian Journal of Child Neurology, Vol. 8 No. 4 (2014), 2 December 2014 , Page 62-65
https://doi.org/10.22037/ijcn.v8i4.5268

How to Cite This Article: Mollamohammadi M, Tonekaboni SH, Pirzadeh Z, Vahedian M . Pregabalin in Childhood Epilepsy: A Clinical TrialIran J Child Neurol. 2014 Autumn;8(4): 62-65.


Abstract

Objective

The prevalence of active epilepsy is about 0.5–1%, and approximately 70% of patients are cured with first anti-epileptic drugs and the remaining patients need multiple drugs. Pregabalin as an add-on therapy has a postive effect on refractory seizures in adults. To the best of our knowledge, there is no research with this drug in childhood epilepsy. We use pregabalin in children with refractory seizures as an add-on therapy. The objective of this study is to evaluate the effects of pregabalin in the reduction of seizures for refractory epilepsy.

Material & Methods

Forty patients with refractory seizures who were referred to Mofid Children’s Hospital and Hazrat Masoumeh Hospital were selected. A questionnaire based on patient record forms, demographic data (age, gender,…), type of seizure, clinical signs, EEG record, imaging report, drugs that had been used, drugs currently being used, and the number of seizures before and after Pregabalin treatment was completed. We checked the number of seizures after one and four months.

Results

After one month, 26.8% of patients had more than a 50% reduction in seizures and 14.6% of these patients were seizure-free; 12.2% had a 25–50% reduction; and approximately 61% had less than a 25% reduction or no change in seizures.

After the fourth month, 34.1% of patients had more than a 50% reduction in seizures and 24.4% of these patients were seizure-free. Additionally, 65.9% of patients had less than 50% reduction in seizures (9.8% between 25–50% and 56.1% less than 25% or without improvement).

Conclusion

We recommend Pregabalin as an add-on therapy for refractory seizures (except for myoclonic seizures) for children.


References

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  15. Jan MM, Zuberi SA, Alsaihati BA. Pregabalin: Preliminary experience in intractable childhood epilepsy. Pediatr Neurol 2008;40(5):347-50.
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The Clinical Features and Diagnosis of Canavan’s Disease: A Case Series of Iranian Patients

Parvaneh KARIMZADEH, Narjes JAFARI, Habibe NEJAD BIGLARI*, Elham RAHIMIAN, Farzad AHMADABADI, Hamid NEMATI, Mohamad Mehdi NASEHI, Mohammad GHOFRANI, Mohsen MOLLAMOHAMMADI

Iranian Journal of Child Neurology, Vol. 8 No. 4 (2014), 2 December 2014 , Page 66-71
https://doi.org/10.22037/ijcn.v8i4.6767

How to Cite This Article: Karimzadeh P, Jafari N, Nejad Biglari H, Rahimian E, Ahmadabadi F, Nemati H, Nasehi MM, Ghofrani M, Mollamohammadi M. The Clinical Features and Diagnosis of Canavan’s Disease: A Case Series of Iranian Patients. Iran J Child Neurol. 2014 Autumn;8(3): 66-71.

Abstract

Objective

Canavan’s disease is a lethal illness caused by a single gene mutation that is inherited as an autosomal recessive pattern. It has many different clinical features especially in the non-Ashkenazi Jewish population.

Material & Methods

45 patients were referred to the Pediatric Neurology Department of Mofid Children’s Hospital in Tehran-Iran from 2010–2014 with a chief complaint of neuro developmental delays, seizures, and neuroimaging findings of leukodystrophy were included in this study. Magnetic Resonance Spectrometry (MRS) and neuro metabolic assessment from a referral laboratory in Germany confirmed that 17 patients had Canavan’s disease.

Results

Visual impairment, seizure, hypotonia, neuro developmental arrest, and macrocephaly were the most consistent findings in the patients in this study. Assessments of neuro developmental status revealed that 13 (76%) patients had neuro developmental delays and 4 (24%) patients had normal neuro development until 18 months of age and then their neuro developmental milestones regressed.  In this study, 100% of cases had macrocephalia and 76% of these patients had visual impairment. A history of seizures was positive in 8 (47%) patients and began around 3 months of age with the most common type of seizure was tonic spasm. EEGs were abnormal in all epileptic patients. In ten of the infantile group, we did not detect elevated level of N-acetylaspartic acid (NAA) in serum and urine. However, the MRS showed typical findings for Canavan’s disease (peaks of N-acetylaspartic acid).

Conclusion

We suggest using MRS to detect N-acetylaspartic acid as an acceptable method for the diagnosis of Canavan’s disease in infants even with normal serum and urine N-acetylaspartic acid levels.

 

References

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Griscelli Syndrome: A Case Report

Seyed Ebrahim MANSOURI NEJAD, Mohammad Javad YAZDAN PANAH, Naser TAYYEBI MEIBODI, Farah ASHRAFZADEH*, Mehran BEIRAGHI TOOSI, Javad AKHONDIAN, Hossein ESLAMIEH

Iranian Journal of Child Neurology, Vol. 8 No. 4 (2014), 2 December 2014 , Page 72-75
https://doi.org/10.22037/ijcn.v8i4.5743

How to Cite This Article: Mansouri Nejad SE, Yazdan panah MJ, Tayyebi Meibodi N, Ashrafzadeh F, Akhondian J, Beiraghi
Toosi M, Eslamieh H. Griscelli Syndrome: A Case Report. Iran J Child Neurol. 2014 Autumn;8(4): 72-75.

Objective
Griscelli syndrome (GS) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the first decade of life. In this article, we report a one-year-old child with type 2 GS who suffers from pigmentation disorder and hypogammaglobulinemia.

References

  1. Kharkar V, Pande S, Mahajan S, Dwiwedi R, Khopkar U. Griscelli syndrome: a new phenotype with circumscribed pigment loss? Dermatol Online J 2007 1;13(2):17.
  2. Sheela SR, Latha M, Susy JI. Griscelli syndrome: Rab 27a mutation. Indian Pediatrics 2004; 41:944-947.
  3. González Carretero P, Noguera Julian A, Ricart Campos S, Fortuny Guasch C, Martorell Sampol L. Griscelli-Prunieras syndrome: report of two cases. An Pediatr (Barc) 2009 ; 70(2):164-7.
  4. Szczawinska-Poplonyk A, Kycler Z, Breborowicz A, Klaudel-Dreszler M, Pac M, Zegadlo-Mylik M, et al. Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. Viral Immunol 2011 Dec;24(6):471-3.
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Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia

Muhammad SAEED*, Anwar ul HAQ, Khaqan QADIR

Iranian Journal of Child Neurology, Vol. 8 No. 4 (2014), 2 December 2014 , Page 76-79
https://doi.org/10.22037/ijcn.v8i4.5064

How to Cite This Article: Saeed M, Haq A, Qadir Kh.Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia. Iran J Child Neurol. 2014 Autumn;8(4): 76-79.

Abstract

Objective

Bart’s syndrome is defined as congenital localized absence of skin, and associated with epidermolysis bullosa. A newborn with Bart’s syndrome is reported because it is a very rare condition, especially when associated with corpus callosum agenesis and concomitant choanal atresia. Clinically it is characterized by raw beefy areas of denuded skin mainly on hands and feet.

We report a rare case of a term female newborn born to non-consanguineous parents who presented with congenital absence of skin in, face, trunk and extremities. To the best of our knowledge, this is the first report presenting a case of Bart’s syndrome associated with corpus callosum agenesis.

References

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  10. Skoven I, Drzewiecki KT. Congenital localized skin defect and epidermolysis bullosa hereditaria letalis. Acta Derm Venereol 1979; 59: 533-7.
  11. Birnbaum RY, Landau D, Elbedour K, Ofir R, Birk OS, Carmi R. Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. Am J Med Genet 2008; 146A: 1063-1066.
  12. Rajpal A, Mishra R, Hajirnis K, Shah M, Nagpur N. Bart’s syndrome. Indian J Dermatol 2008; 53: 88-90.
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  14. Christinano AM, Bart BJ, Epstein EH Jr, Uitto J: Genetic basis of Bart’s syndrome: A glycine substitution mutation in the type VII collagen gene. Invest Dermatol 1996;106: 1340–1342.

 

Neuroplasticity in Early Onset Multiple Sclerosis

Abdorreza NASERMOGHADASI*

Iranian Journal of Child Neurology, Vol. 8 No. 4 (2014), 2 December 2014 , Page 80-81
https://doi.org/10.22037/ijcn.v8i4.5192

How to Cite This Article: Naser Moghaddasi A. Neuroplasticity in Early Onset Multiple Sclerosis. Iran J Child Neurol. 2014Autumn;8(4): 80-81.

 

Letter to Editor, Has not abstract.


References

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