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:: Volume 18, Issue 2 (6-2016) ::
J Gorgan Univ Med Sci 2016, 18(2): 132-134 Back to browse issues page
Photoclinic
Hosseininejad SM1 , Safaeian B2 , Hosseini SA 3
1- Student of Medicine, Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran
2- Assistant Professor, Pediatric Nephrologist, Neonatal and Children Health Research Center, Golestan University of Medical Sciences, Gorgan, Iran
3- Assistant Professor, Pediatric Neurologist, Neonatal and Children Health Research Center, Golestan University of Medical Sciences, Gorgan, Iran , parnianah@yahoo.com
Abstract:   (11789 Views)

Case presentation: A 20 month-old hypotonic boy with a history of preterm labor at 32 weeks of gestational age, secondary generalized seizures in infancy, hypothyroidism (T4: 2, TSH: 14); motor and speech developmental delay, mild  ataxia and renal failure (chronic kidney disease: CKD) was presented to the clinic of Taleghani pediatric hospital in Gorgan, Northern Iran during 2015. In further evaluation, the patient did not have fix and follow occularly and the head of the left optic nerve was atrophic and congenitally malformed although it seemed the visual prognosis for the right eye was even good with just a slightly pale nerve. The renal ultrasonography showed an increase of general echo which was suggestive for congenital or parenchymal abnormalities. Dialysis was ordered but the patient's family declined. The Image of the infant brain in axial cut using MRI 1.5 Tesla marked molar tooth sign (MTS). The schematic view is also given. Conservative treatment including Scholl, anti-convulsant solution, (30 cc daily), ferrous sulfate (20 drops), calcium tablets carbonate (2 per day) and phenobarbital (5 mg/kg/bw divided in two parts) was administered for the patient.

Diagnosis: Classic Joubert syndrome subtype: CORS (11q12.2 TMEM216)

Joubert syndrome is a rare autosomal recessive disorder affecting the cerebellum and characterized by abnormal respiratory pattern and eye movements, hypotonia, ataxia, developmental retardation with neuropathological defects of cerebellum and brainstem comprising inherited hypoplasia or aplasia of vermis. This clinical entity is possibly under-reported with a prevalence of less than 1 per 100,000. This syndrome is prototype of congenital vermian hypoplasia. Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, speech and hearing therapy may benefit some patients. Infants with abnormal breathing patterns must be monitored.

Keywords: Joubert syndrome
Full-Text [PDF 153 kb] [English Abstract]   (15070 Downloads) |   |   Abstract (HTML)  (531 Views)  
Type of Study: Photoclinic | Subject: Pediatric
References
1. Louie CM, Gleeson JG. Genetic basis of Joubert syndrome and related disorders of cerebellar development. Hum Mol Genet. 2005 Oct; 14(2): R235-42.
2. Swaiman KF, Ashwal S, Ferriero DM, Schor NF. Swaiman’s Pediatric Neurology: Principles and Practice. 5th ed. Philadelphia: Saunders Elsevier. 2012; p: 164.
3. Braddock SR, Henley KM, Maria BL. The face of Joubert syndrome: a study of dysmorphology and anthropometry. Am J Med Genet A. 2007 Dec; 143A(24): 3235-42.
4. Van Beck EJ, Majoie CB. Case 25 Joubert syndrome. Radiology. 2000; 216: 379-82.
5. Barkovich A. Pediatric Neuroimaging. 3rd ed. Philadelphia: Lipincott Williams & Wilkins. 2002; pp: 345-6.
6. Choh SA, Choh NA, Bhat SA, Jehangir M. MRI findings in Joubert syndrome. Indian J Pediatr. 2009; 76(2): 231-5.
7. Merritt L. Recognition of the clinical signs and symptoms of Joubert syndrome. Adv Neonatal Care. 2003 Aug; 3(4): 178-86.
8. Tynan J, Szkup P. A 7-year-old female with hypotonia and atakia. Br J Radiol. 2005 Sep; 78(933): 869-70.
9. Parisi M, Glass I. Joubert Syndrome and Related Disorders. In: Pagon RA, Adam MP, Ardinger HH. GeneReviews® [Internet]. University of Washington, Seattle. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1325
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Hosseininejad SM, Safaeian B, Hosseini SA. Photoclinic. J Gorgan Univ Med Sci 2016; 18 (2) :132-134
URL: http://goums.ac.ir/journal/article-1-2774-en.html


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Volume 18, Issue 2 (6-2016) Back to browse issues page
مجله دانشگاه علوم پزشکی گرگان Journal of Gorgan University of Medical Sciences
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