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NEURORADIOLOGY Table of Contents   
Year : 2006  |  Volume : 16  |  Issue : 4  |  Page : 743-744
Jouberts syndrome - a case presentation


Department of Radiodiagnosis, R.N.T. Medical College and Associated Group of Hospitals Udaipur-313004, Rajasthan, India

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Date of Submission24-Feb-2006
Date of Acceptance10-Oct-2006
 

Keywords: Joubert Syndrome, Vermian agenesis

How to cite this article:
Sharma N C. Jouberts syndrome - a case presentation. Indian J Radiol Imaging 2006;16:743-4

How to cite this URL:
Sharma N C. Jouberts syndrome - a case presentation. Indian J Radiol Imaging [serial online] 2006 [cited 2019 Aug 22];16:743-4. Available from: http://www.ijri.org/text.asp?2006/16/4/743/32337

   Introduction Top


A autosomal recessive syndrome of neurological disorders caused by agenesis of the vermis of the brain that controls balance and coordination. Generally motor activity is slowed (psychomotor retardation) and there are abnormal eye movements. Respiratory irregularities, including rapid panting, may occur during infancy. It is a multisystem disorder affecting nervous, urogenital, ocular and gastrointestinal system in varying proportions. Absence of dysmorphic signs and variability of clinical presentation can sometimes delay the diagnosis. We report a patient with developmental delay, hypotonia during infancy, rotatory nystagmus, dysarthria, and mental retardation who was diagnosed to have Jouberts syndrome at 18 years of age.


   Case Report Top


A 18 years old malnourished girl presented with the complaints of inability to fix gaze, failure to gain weight and weakness and ataxia. Her past history disclosed developmental retardation. Major retardation was seen involving the gross motor system. She was able to sit without support by the age of one years and she could walk a few steps by herself by the age of two. Speech could be understood clearly when she was of 5 years. She had been a hypotonic and hypoactive baby all throughout her child hood, and had had nystagmus in the form of rotatory eye movements noticed by her parents since she was of few months. She was a child of a cosanguinously married couple. However no history of similar illness in any of the relatives could be elucidated from them. She was born as a fullterm vaginally delivered child with a birth weight of about 3 kg. She had no respiratory problems ever. She had mild dysmetria and dysarthria. She was ataxic in her walk and could not maintain her balance with closed eyes. Opthalmologic reference bring forth rotatory nystagmus. Renal ultrasound revealed few small cortical cysts. Both the kidneys were hyperechoic but small with partially lost corticomedullary differentiation. Her creatinine at the time of admission was 19 and urea was 250 gm%. She was aware of her illness and looked withdrawn.

A CT scan was performed in our department using SOMATOM AR T VD10E scanner and 3 mm noncontrast axial slices were taken through the posterior fossa. It revealed an enlarged fourth ventricle measuring 2.6 cms in coronal plane. Cerebellar vermis was absent with both lobes apposing in the midline with hypoplasia of cerebellar peduncles and a Molar tooth configuration of the fourth ventricle was noticed. No hydrocephalous or reterocerebellar cystic space was seen. A diagnosis of Jouberts syndrome was considered and MRI planned but the girl died of uncontrolled renal failure the next morning.


   Discussion Top


Jouberts syndrome is a rare genetic disorder with autosomal recessive inheritance characterized by hypoplasia to total aplasia of the cerebellar vermis and dilatation of fourth ventricle in typical batwings configuration. Approximately 10% of individuals with Joubert syndrome have abnormal collections of cerebrospinal fluid in the fourth ventricle or the posterior fossa that resemble Dandy-Walker malformation. Some individuals have occipital encephaloceles or meningoceles, and a few have polymicrogyria The syndrome was first reported in 1969 by Jouberts et al. in the journal neurology relating a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and mental retardation to familial agenesis of cerebellar vermis. Most children with Joubert syndrome develop truncal ataxia and, as a result, exhibit delayed acquisition of gross motor milestones. Many have rhythmic tongue movements which may lead to tongue hypertrophy. Although some infants have died of apneic episodes the breathing abnormalities generally improve with age and may completely disappear. Cognitive abilities are variable, ranging from severe mental retardation to normal; a few individuals have attended college. When present, mental retardation is commonly in the moderate range. A number of children with Joubert syndrome also have autism and behavioral problems. A number of other features have since been listed in this multisystem disorder particularly affecting the ocular system as retinal dysplasia, colobomas, nystagmus, strabismus, and ptosis. Retinal blindness is rarely present. The renal disease in Joubert syndrome is variable, The most common manifestation is cystic dysplasia of the kidneys, which is often visualized on renal ultrasound examination as multiple small cysts in small, immature kidneys with fetal lobulations. One of the distinctive renal conditions described in some children with Joubert syndrome is juvenile nephronopthosis. Progression to end-stage renal disease occurs by an average age of 13 years. Renal ultrasound changes occur late in the disease and consist of small, scarred kidneys with increased echogenicity and occasional cysts at the corticomedullary junction. Sometime polydactyly is noticed and tongue tremors and protrusion are also seen. Few cases also have duodenal atresia and fibrosis. The prognosis and long-term outcome remains unclear.[6]

 
   References Top

1.Bennett CL, Meuleman J, Glass IA, Chance PF (2003) Clinical and genetic aspects of the Joubert syndrome: a disorder characterised by cerebellar vermian hypoplasia and accompanying brainstem malformations.  Back to cited text no. 1    
2.Deonna T and Ziegler AL (1993) Cognitive development and behavior in Joubert syndrome. Biol Psychiatry 33:854-5  Back to cited text no. 2    
3.Patel S and Barkovich AJ (2002) Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol 23:1074-87  Back to cited text no. 3    
4.Aicardi J et al Le syndrome de Joubert. ? propos de cinq observations. Arch Fr Pιdiat, 1983, 40:625-9  Back to cited text no. 4    
5.Appleton RE et al Joubert's syndrome associated with ocular fibrosis and histidinemia. Arch Neur, 1989, 46:579-82  Back to cited text no. 5    
6.Beemer FA, Gooskens R Chorioretinal coloboma and Joubert syndrome. (Letter). J Pediat, 1985, 107:158-9  Back to cited text no. 6    

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Correspondence Address:
N C Sharma
D-12, M.B. Government Hospital Camp Udaipur (Raj)
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-3026.32337

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    Introduction
    Case Report
    Discussion
    References

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