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Indian Journal of Maternal-Fetal & Neonatal Medicine 4(2):p 214-217, Jul-Dec 2017. | DOI: http://dx.doi.org/10.21088/ijmfnm.2347.999X.4217.20
Case Report
Joubert’s Syndrome
Prajakta Ghatage, Resident, Department of Paediatrics, DVVPF’s Medical College, Ahmednagar, Maharashtra414111, India. , Sunil Mhaske1 , Prajakta Ghatage2 , Ganesh Misal2 , Thaslima K.2
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Indian Journal of Maternal-Fetal & Neonatal Medicine 4(2):p 214-217, Jul-Dec 2017. | DOI: http://dx.doi.org/10.21088/ijmfnm.2347.999X.4217.20
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Abstract
Joubert syndrome is a autosomal recessive disorder (ciliopathy) with significant genetic heterogenicity that is associated with cerebellar vermis hypoplasia and the pontomesencephalic molar tooth sign (a deepening of the interpeduncular fossa with thick and straight superior cerebellar peduncles). Clinically there is hypotonia, ataxia (as toddler), characterized by breathing abnormalities including episodic apnea and hyperpnoea (which improves with age), global developmental delay, nystagmus, strabismus, ptosis and oculomotor apraxia. Here we report a case of a 45 day female child brought by parents with complaints of: Feeding difficulty and poor sucking since birth and abnormal movements of upper and lower limbs since day 6 of life. On MRI Brain, there is seen caudal Vermian agenesis, thickening and elongation of the superior cerebellar peduncle with deepening of interpenduncular fossa giving a batwing appearance of the fourth ventricle – ‘molar tooth appearance’ typically seen in Joubert Syndrome.
Keywords: Hypotonia; Apraxia; Seizures; Joubert’s Syndrome.
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DOI: http://dx.doi.org/10.21088/ijmfnm.2347.999X.4217.20
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