NCL Disorders: Frequent Causes of Childhood Dementia

Angela SCHULZ, Alfried KOHLSCHÜTTER

Iranian Journal of Child Neurology, Vol. 7 No. 1 (2013), 24 February 2013 , Page 1-8
https://doi.org/10.22037/ijcn.v7i1.4070

 

 

How to Cite This Article: Schulz A, Kohlschütter A. NCL Disorders: Frequent Causes of Childhood Dementia. Iran J Child Neurol. 2013 Winter;7(1):1-8.

Abstract

Dementia in children or young adults is most frequently caused by neuronal ceroidlipofuscinoses (NCL), a group of incurable lysosomal storage disorders linked by the accumulation of a characteristic intracellular storage material and progressive clinical deterioration, usually in combination with visual loss, epilepsy, and motor decline. The clinical characteristics can vary and the age at disease onset ranges from birth to over 30 years. Diagnosis of an NCL is difficult because of genetic heterogeneity with14 NCL forms (CLN1- CLN14) identified and a high phenotype variability. A new classification of the disorders is based on the affected gene and the age at disease onset and allows a precise and practicable delineation of every NCL disease. We present a clear diagnostic algorithm to identify each NCL form. A precise diagnosis is essential for genetic counseling of affected families and for optimizing palliative care. As patient management profits from recognizing characteristic complications, care supported by a specialized team of NCL clinicians is recommended. The development of curative therapies remains difficult as the underlying pathophysiological mechanism remains unclear for all NCL forms.

References

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Prophylaxis of Childhood Migraine: Topiramate Versus Propranolol

Seyed Hassan TONEKABONI, Ahad GHAZAVI, Afshin FAYYAZI, Ali KHAJEH, Mohammad Mahdi TAGHDIRI, Fatemeh ABDOLLAH GORJI, Eznollah AZARGHASHB

Iranian Journal of Child Neurology, Vol. 7 No. 1 (2013), 24 February 2013 , Page 9-14
https://doi.org/10.22037/ijcn.v7i1.4071

How to Cite this Article: Tonekaboni SH, Ghazavi A, Fayyazi A, Khajeh A, Taghdiri MM, Abdollah Gorji F, Azargashb E. Prophylaxis of Childhood Migraine: Topiramate Versus Propranolol. Iran J Child Neurol. 2013 Winter; 7 (1):9-14.

 

Objective

Headache is a common disabling neurological disorder and migraine comprises more than half the causes of recurrent headaches in children. Despite extended prevalence of this type of headache there is lack of evidence about best drug treatment for migraine. So we aimed to compare the therapeutic effects of these drugs on childhood migraine.

Materials & Methods

In the current study, a randomized clinical trial consisting of 78 patients according to 2004 International Headache Association criteria were randomly assigned to two groups that matched by age and sex. One of these two groups was treated with Topiramate, while the other was given Propranolol. After one and four months, the efficiency of these treatments was measured in terms of frequency, severity and duration of migraine attacks.

Results

Results obtained from the data collected showed that of these 78 studied patients, 38 patients received Topiramate treatment (group A) and the rest (40 patients; group B) was treated with Propranolol. The average age of group A was 8.5± 2.9 years and that of group B was 8.3 ± 2.8 years. No significant difference was observed between these two groups in terms of reduction in frequency, severity and duration of migraine attacks.

Conclusion

Results showed that both treatments had the same efficiency in healing migraine headaches and there was no significant difference between their treating results. However, further studies are needed to examine medical effects of these two medicines.

 

References

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  2. Lipton RB, Silberstein SD, Stewart WF. An update on the epidemiology of migraine. Headache 1994 Jun; 34 (6):319-28.
  3. Stewart WF, Linet MS, Celentano DD, Van Natta M, Ziegler D. Age- and sex-specific incidence rates of migraine with and without aura. Am J Epidemiol 1991 Nov; 134 (10): 1111-20.
  4. Marcos J. Cruz, Ignacio Valencia, Agustı´n Legido, et al, Efficacy and Tolerability of Topiramate in Pediatric Migraine. Pediatr Neurol 2009; 41: 167-170.
  5. Ashrafi  MR,  Shabanian  R,  Zamani  GR,  Mahfelati  F. Sodium valproat versus Propranolol in pediatric migraine prophylaxis. Eur J Pediatr Neurol 2005; 9 (5): 333-8.
  6. Hershey AD, Winner PK. Pediatric migraine: recognition and treatment. J Am Osteopath Assoc 2005 Apr; 105:4 ( Supple 2):2S–8S.
  7. Lewis DW, Scott D, Rendin V. Treatment of pediatric headache. Expert Opin Pharmacother 2002 Oct;3(10):1433-42.
  8. Stewart WF, Lipton RB, Kolodner K, Liberman J, Sawyer J. Reliability of the migraine disability assessment scores in a population-based sample of headache sufferers. Cephalalgia 1999 Mar; 19 (2): 107-14.
  9. Hershey AD,  Powers  SW,  Vockell ALB,  LeCates  SL, Kabbouche MA, Maynard MK. PedMIDAS: development of a questionnaire to assess disability of migraines in children. Neurology 2001 Dec; 57(11): 2034-9.
  10. Hershey AD, Powers SW, Vockell ALB, LeCates SL, Segers A, Kabbouche MA. Development of a patient- based grading scale for PedMIDAS. Cephalalgia 2004 Oct; 24 (10): 844-9.
  11. Ferraro D, Di Trapani G. Topiramate in the prevention of pediatric migraine: literature review. J Headache Pain 2008 Jun; 9 (3): 147-50.
  12. J W. Lance and P J. Goadsby. Mechanism and Management of Headache. Butterworth-Heinemann; 7th edition, 2004.
  13. Lipton RB, Silberstein SD. Stewart WF. An update on the epidemiology of migraine. Headache 1994 Jun; 34(6):319-28.

 

Sleep Inducing for EEG Recording in Children: A Comparison between Oral Midazolam and Chloral Hydrate

Mahmoud Reza ASHRAFI, Reza AZIZI MALAMIRI, Gholam Reza ZAMANI, Mahmoud MOHAMMADI, Firozeh HOSSEINI

Iranian Journal of Child Neurology, Vol. 7 No. 1 (2013), 24 February 2013 , Page 15-19
https://doi.org/10.22037/ijcn.v7i1.4072

How to Cite This Article: AshrafiMR, Azizi Malamiri R, Zamani GR, Mohammadi M, Hosseini F. Sleep Inducing for EEG Recording in Children: A Comparison between Oral Midazolam and Chloral Hydrate. Iran J Child Neurol. 2013 Winter;7(1):15-19.

Objective

Electroencephalography (EEG) recording is a long duration procedure that needs patient’s cooperation for device setup and performing the procedure. Many children lose their cooperation during this procedure. Therefore, sedation and sleep are frequently induced using a few agents as pre procedure medication in children before EEG recording. We aimed to compare the sedative effects of oral midazolam versus chloral hydrate before the procedure along with their impacts on EEG recording in children.

Materials & Methods

A randomized trial was carried out to compare the sedative effects of oral midazolam versus chloral hydrate and their impacts on EEG recording in children. A total of 198 children (100 in the midazolam group and 98 in the chloral hydrate group) were enrolled in the study and randomly allocated to receive either oral moidazolam or chloral hydrate.

Results

Oral midazolam had superiority neither in sleep onset latency nor in sleep duration when compared to chloral hydrate. Moreover, the yield of epileptiform discharges in the chloral hydrate group was more than the midazolam group.

Conclusion

The results of this study showed that both chloral hydrate 5% (one ml/kg) and oral midazolam (0.5 mg/kg) could be administered as a pre medication agent for EEG recording in children. However, oral midazolam at this dose had no advantage compared with chloral hydrate.

References

  1. Ashrafi MR, Mohammadi M, Tafarroji J, Shabanian R, Salamati P, Zamani GR. Melatonin versus chloral hydrate for recording sleep EEG. Eur J Paediatr Neurol 2010;14(3):235-8.
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  5. Greenblatt DJ, Ehrenberg BL, Culm KE, Scavone JM, Corbett KE, Friedman HL, et al. Kinetics and EEG effects of midazolam during and after 1-minute, 1-hour, and 3-hour intravenous infusions. J Clin Pharmacol 2004;44(6):605-11.
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  7. Karl HW, Cote CJ, McCubbin MM, Kelley M, Liebelt E, Kaufman S, et al. Intravenous midazolam for sedation of children undergoing procedures: an analysis of age- and procedure-related factors. Pediatr Emerg Care 1999;15(3):167-72.
  8. Lightdale JR, Mitchell PD, Fredette ME, Mahoney LB, Zgleszewski SE, Scharff L, et al. A Pilot Study of Ketamine versus Midazolam/Fentanyl Sedation in Children Undergoing GI Endoscopy. Int J Pediatr 2011; 2011:623710.
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How to Cite This Article: Bilan N, Poorshiri B.The Role of Chest Physiotherapy in Prevention of Postextubation Atelectasis in Pediatric Patients with Neuromuscular Diseases. Iran J Child Neurol. 2013 Winter; 7 (1):21-24.

 

Objective

There are controversial findings in the literature on the effects of chest physiotherapy on postextubation lung collapse in pediatric age group. Therefore, we aimed to investigate the efficacy of chest physiotherapy in prevention of postextubation atelectasis in pediatric patients.

Materials & Methods

In a case-control study from March 2007 to March 2011, two groups of patients (35 patients in each group) susceptible to lung collapse were enrolled in the study. The studied patients had neuromuscular diseases such as spinal muscular atrophy, Guillain-Barre syndrome, critical illness polyneuropathy/myopathy, and cerebral palsy. The patients were randomly divided into two groups (case and control); The case group underwent daily chest physiotherapy through vibrator and chest percussion and the control group was under supervision. In the latter group, the underlying disease was treated and the lung collapse was managed, if occurred.

Results

The frequency of atelectasis was lower in the case group who received prophylactic chest physiotherapy compared to the control group (16.6% vs. 40%).

Conclusion

Chest physiotherapy as well as appropriate and regular change of position can considerably reduce the rate of pulmonary collapse in pediatric patients.

References

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  2. Flenady VJ, Gray PH. Chest physiotherapy for preventing morbidity in babies being extubated from mechanical ventilation. Cochrane Database Syst Rev 2002;(2):CD000283.
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CNS Structural Anomalies in Iranian Children with Global Developmental Delay

Gholam Reza ZAMANI, Reza SHERVIN-BADV, Ali NIKSIRAT, Houman ALIZADEH

Iranian Journal of Child Neurology, Vol. 7 No. 1 (2013), 24 February 2013 , Page 25-28
https://doi.org/10.22037/ijcn.v7i1.4075

How to Cite This Article: Zamani GH, Shervin Badv R, Niksirat A, Alizadeh H. CNS Structural Anomalies in Iranian Children with Global Developmental Delay. Iran J Child Neurol. 2013 Winter; 7 (1):25-28.

 

Objective

Central Nervous system (CNS) malformations are one of the most important causes of global developmental delay (GDD) in Children. About one percent of infants with GDD have an inherited metabolic disorder and 3-10 percent have a chromosomal disorder. This study aimed to survey the frequency of brain structural anomalies and their subtypes among the variety of etiologic factors in children with GDD in our patients.

Materials & Methods

This study used the results of neuroimaging studies [unenhanced brain Magnetic Resonance Imaging (MRI)] of all children who had been referred for evaluation of GDD to outpatient Clinic of Pediatric neurology at Children’s Medical Center affiliated to Tehran University of Medical Science between September 2009 and September 2010.

Results

In this study, unenhanced brain MRI was performed on 405 children, of which

80 cases (20 percent) had brain structural anomalies. In 8.7 percent of the cases, previous history of brain structural disorders existed in other children of the family and 20 percent of mothers had inadequate consumption of folate during pregnancy.

Conclusion

Based on the results of this study, unenhanced cranial MRI seems to be a fundamental part of evaluation in all children with GDD. Adequate folate consumption as prophylaxis as well as genetic counseling can be worthy for high-risk mothers who have previous history of CNS anomaly or miscarriage to avoid repeated CNS anomalies in their next pregnancies.

 

References

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2. A guide to investigation of children with developmental delay in East Anglia 2005Available from:http://www. phgfoundation.org/file/2366.

3. Williams J. Global developmental delay–globally helpful? Dev Med Child Neurol 2010;52(3):227.

4. Shevell M, Ashwal S, Donley D, Flint J, Gingold M, Hirtz D, et al. Practice parameter: Evaluation of the child with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology 2003;60(3):367-80.

5. Whiting K. Investigating the child with learning difficulty.Current Pediatrics 2001;11(4):240-7.

6. Aicardi J. The etiology of developmental delay. Semin Pediatr Neurol 1998;5(1):15-20.

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8. Kuzniecky R, Murro A, King D, Morawetz R, Smith J, Powers R, et al. Magnetic resonance imaging in childhood intractable partial epilepsy: Pathologic correlations. Neurology1993;43:681-7.

9. Massimi L, Paternoster G, Fasano T, et al: On the changing epidemiology of hydrocephalus. Childs Nerv Syst. 2009;25(7):795-800.

10. Warkany J, Lemire RJ, Cohen Jr MM. Mental retardation and congenital malformations of the central nervous system. Chicago: Year Book Medical Publishers; 1981.

11. Petrini J, Damus K, Johnston RB Jr. An overview of infant mortality and birth defects in the United States. Teratology. 1997;56(1-2):8-10.

12. Rosano A, Botto LD, Botting B, Mastroiacovo P. Infant mortality and congenital anomalies from 1950 to 1994: an international perspective. J Epidemiol Community Health 2000; 54(9):660-6.

13. Cordero JF. Finding the causes of birth defects. The New England Journal of Medicine. 1994;331(1):48-9.

14. Srour M, Mazer B, Shevell MI. Analysis of Clinical Features Predicting Etiologic Yield in the Assessment of Global    Developmental    Delay.Pediatrics    2006 ;118(1):139-45.

15. Meral O, Burak T, Nur A. Etiologic evaluation in 247 children with GDD at Istanbul, Turkey. J Trop Pediatr 2005;51(5):310-3.

16. World Health Organization. Weekly Iron-Folic Acid Supplementation (WIFS) in women of reproductive age: its role in promoting optimal maternal and child health. Geneva, World Health Organization, 2009. WHO/NMH/ NHD/MNM/09.2. p. 2.

 

 

Evaluation of the Young Children with Neurodevelopmental Disability: A Prospective Study at Hamadan University of Medical Sciences Clinics

Afshin FAYYAZI, Leila KHEZRIAN, Zohreh KHERADMAND, Somayeh DAMADI, Ali KHAJEH

Iranian Journal of Child Neurology, Vol. 7 No. 1 (2013), 24 February 2013 , Page 29-33
https://doi.org/10.22037/ijcn.v7i1.4076

How to Cite This Article: Fayyazi A, Kheizrian L, Kheradmand Z, Damadi S, Khajeh A. Evaluation of the Young Children with Neurodevelopmental Disability: A Prospective Study at Hamadan University of Medical Sciences Clinics. Iran J Child Neurol. 2013 Winter; 7 (1):29-33.

 

Objective

Developmental impairment is a common problem in children health that occurs in approximately 5–10% of the childhood population. The aim of this study was to determine the etiologic yield of subspecialists’ evaluation of young children with developmental disability.

Materials & Methods

All children aged between 2 months and 5 years referred over a 15-month period to Hamadan University of Medical Sciences subspecialty services for initial evaluation of a suspected developmental Disability, were enrolled in the present study. Diagnostic yield was determined after the completion of clinical assessments and laboratory tests requested by the evaluating physician.

Results

A total of 198 children (129 boys and 69 girls) were eligible for our study.

108 children had global developmental delay and 90 children had isolated developmental delay. Approximately ¼ of all patients did not have any specific etiology for developmental disability. Cerebral palsy (CP) was the most common clinical syndrome in all patients (41.4%). Hypoxic ischemic encephalopathy (13.8%), brain dysgenesis (13%), genetic disorder (13%), and  neurodegenerative  diseases  (11%)  were  determined  in  more  than one half of all children with global developmental disability. in our study, “developmental speech delay” was the common cause of isolated speech delay.

Conclusion

Determination of an underlying etiology is an essential part of specialty evaluation of young children with developmental disability. The results of this study were similar closely to the results of other studies.

 

References

  1. Bernard LM. Current Management in Child Neurology. 3rd ed. London: BC Decker Inc; 2005. pp. 3-8 and 246-50.
  2. Cleary M A, Green A. Developmental delay: when to suspect and how to investigate for an inborn error of metabolism. Arch Dis Child 2005;90(11):1128–32.
  3. Glascoe FP, Dworkin PH. Obstacles to effective developmental surveillance: errors in clinical reasoning. J Dev Behav Pediatrics 1993;14(5):344–9.
  4. Shaffer LG. American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation. Genet Med 2005;7:650-4.
  5. Nelson HD, Nygren P, Walker M, Panoscha R. Screening for Speech and Language Delay in Preschool Children: Systematic Evidence Review for the US Preventive Services Task Force. Pediatrics 2006;117(2):e 297-319.
  6. Leung AK, Kao CP. Evaluation and Management of the Child with Speech Delay. Am Fam Physician 1999; 59(11):3121-28.
  7. Bosley A. Developmental delay versus developmental impairment. Arch Dis Child 2005; 90(8):875.
  8. Matson JL, Mahan S, LoVullo SV. Parent training: a review of methods for children with developmental disabilities. Res Dev Disabils 2009;30(5): 961–8.
  9. Shevell M, Ashwal S, Donley D, Flint J, Gingold M, Hirtz D, et al. Practice parameter: evaluation of the child with global developmentaldelay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology 2003;60(3):367-80.
  10. McDonald L, Rennie A, Tolmie J, Galloway P, McWilliam R. Investigation of global developmental delay. Arch Dis Child 2006;91(8):701–5.
  11. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus Statement: Chromosomal Microarrayc Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies. Am J Hum Genet 2010;86(5):749–64.
  12. Stankiewicz P, Beaude AL. Use of array CGH in the     evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 2007;17(3):182-92.
  13. Sherr EH, Shevell MI. Global Developmental Delay and Mental Retardation/Intellectual Disability. In: Swaiman KF, Ashwal S, Ferriro DM, Schor NF, editors. Swaiman’s Pediatric Neurology. 5th ed. China: Elsevier Saunders; 2012. p. 554-74.
  14. Shevel MI, Majnemer A, Rosenbawn P, Abrahamowiez M. Etiologic yield of subspecialists’ evaluation of young children with global developmental delay. J Pediatr 2000 May;136(5):593-8.
  15. Tikaria A, Kabara M, Gupta N, Sapra S, Balakrishnan P, Gulati S, et al. Aetiology of global developmental delay in young children: experience from a tertiary care center in India. Natl Med J India 2010;23(6):324-9.
  16. Aggarwal S, Bogula VR, Mandal K, Kumar R, Phadke SR. Aetiologic spectrum of mental retardation & developmental delay in India. Indian J Med Res 2012;136(3):436-44.

 

 

 

Association of Brucella Meningoencephalitis with Cerebrospinal Fluid Shunt in A Child: A Case Report

Babak ABDINIA, Mohammad BARZEGAR, Majid MALAKI, Haleh BEHBOD, Shahram OSKOUI

Iranian Journal of Child Neurology, Vol. 7 No. 1 (2013), 24 February 2013 , Page 35-38
https://doi.org/10.22037/ijcn.v7i1.4077

How to Cite This Article: Abdinia B, Barzegar M, Maleki M, Behbod H, Oskoui Sh. Association of Brucella Meningoencephalitis with Cerebrospinal Fluid Shunt in a Child: a Case Report. Iran J Child Neurol. 2013 Winter:7(1):35-38.

 

Brucellosis is an endemic zoonosis in Iran. It is a systemic infection that can involve any organs or systems of the body and have variable presentations. Ventriculoperitoneal (VP) shunt infections due to brucellosis have been rarely reported in the literatures.

This  is  the  history  of  a  four  years  old  boy  who  developed  Brucella meningoencephalitis at the age of 42 months, whilst he had a VP shunt in situ for hydrocephalus treatment. Also, he presented brucellosis as acute abdomen. This patient was treated with trimethoprim-sulfamethoxazole, gentamicin and rifampicin. The shunt was extracted and all clinical and laboratory test abnormalities subsided through this management.

We propose that in a patient with Brucella meningoencephalitis, the cerebrospinal  fluid shunt  system  can  be  extracted  and  treatment  with appropriate combination of antibiotics could be successful. Moreover, it shows that brucellosis should be considered in the differential diagnosis for acute abdomen and ascites in endemic regions.

References

1. Hasanjani Roushan MR, Mohrez M, Samilnejad Gangi SM, Soleimani Amiri MJ, Hajiahmadi M. Epidemiological features and clinical manifestations in 469 adult patients with brucellosis in babol, Northern Iran. Epidemiol infect 2004;132(6):1109-14

2. Bouza E, García de la Torre M, Parras F, Guerrero A, Rodríguez-Créixems M, Gobernado J. Brucellar meningitis. Brucellar meningitis. Rev Infect Dis 1987; 9(4):810-22.

3. Young EJ. Brucella species. In: Mandell GL, Bennett JE, Dolin R, eds. Mandell, Douglas and Bennetts Õs Principles and Practice of Infectious Diseases. 5th ed. New York: Churchill Livingstone; 2000. p. 86-93.

4. Feiz J, Sabbaghian H, Miralai M. Brucellosis due to Brucella melitensis in children. Clinical and epidemiological observations on 95 patients studied in Central Iran. Clin Pediatr 1978;17:904-7.

5. Young EJ. Human brucellosis. Rev Infect Dis 1983; 5(5):821-42.

6. Llorens-Terol J, Busquets RM. Brucellosis treated with rifampicin. Arch Dis Child 1980;55(6):486-8.

7. FeizJ, Sabbaghian H, Miralai M. Brucellosis due to Brucella melitensis in children. Clinical and epidemiological observations on 95 patients studied in Central Iran. Clin Pediatr 1978;17:904-7.

8. Wald SL, McLaurin RL. Cerebrospinal fluid antibiotic levels during treatment of shunt infections. J Neurosurg 1980;52(1):41-6.

 

Joubert Syndrome in Three Children in A Family: A Case Series

Javad AKHONDIAN, Farah ASHRAFZADEH, Mehran BEIRAGHI TOOSI, Nasrin MOAZEN, Toktam MOHAMMADPOOR, Reza KARAMI

Iranian Journal of Child Neurology, Vol. 7 No. 1 (2013), 24 February 2013 , Page 39-42
https://doi.org/10.22037/ijcn.v7i1.4078

Abstract

How to Cite This Article: Akhondian J, Ashrafzadeh F, Beiraghi Toosi M, MOazen N, Mohammadpoor T, Karimi R. Joubert Syndrome in Three Children in a family: A Case Series. Iran J Child Neurol. 2013 Winter: 7(1); 39-42.

 

Joubert  syndrome  (JS)  is  a  rare  autosomal  recessive  central  nervous system malformation characterized by hypoplasia of the cerebellar vermis,

hypotonia and abnormal psychomotor development, along with altered respiratory pattern and various ophthalmologic features.

Here, we describe three children with Joubert syndrome in a family that had almost similar presentations, including ataxia, developmental delay, mental retardation and ocular disorders.

Prevalence of Joubert syndrome is about 1 in 100,000 live birth. It may be accompanied by other organs’ disorders. The molar tooth sign is pathognomonic for joubert syndrome that is ascertained by brain MRI.

 

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