Joubert Syndrome Associated with Seizures.
نویسندگان
چکیده
Received: 23.10.2015; Accepted: 30.03.2017 Fig. 1: MRI Brain (T2 Axial) showing typical molar tooth sign Fig. 2: MRI Brain (T2 Axial) showing bat wing appearance of fourth ventricle dysplasia of pontine and medullary structures such as the basis pontis, reticular formation, inferior olivary, dorsa l co lumn and so l i tary t rac t nuclei. Moreover, typical findings are represented by the lack of decussation b o t h o f t h e s u p e r i o r c e r e b e l l a r peduncles and of the corticospinal tracts at the medullary pyramids. 10 causative genes have been identified all of which encode for proteins of primary cilium, this means that JSRD can be included as a ciliopathy. The cardinal neurologica l features of JSRD are hypotonia evolving into ataxia and developmental delay, often associated with intellectual disability, al tered respiratory pattern in the neonatal period and abnormal ocular movements. Less common clinical features include seizures, hemifacial spasms, polydactyly, colobomas, ptosis, renal cysts, soft tissue tumours of tongue and occipital meningocele. The diagnosis of JSRD is suspected in patients presenting with hypotonia, oculomotor apraxia, nystagmus and abnormalities of respiratory pattern. T h e m a n a g e m e n t i s e s s e n t i a l l y symptomatic with antiepileptics.
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عنوان ژورنال:
- The Journal of the Association of Physicians of India
دوره 65 8 شماره
صفحات -
تاریخ انتشار 2017