Newborn with multiple congenital anomalies in newborn, intensive care unit suggestive of joubert syndrome and related disorder with an atypical presentation

ABSTRACT

Joubert syndrome (JS) is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the molar tooth sign on axial magnetic resonance images. This syndrome is difficult to diagnose clinically because of its variable phenotype. Molar tooth sign is not specific for JS. Another entity is termed as Joubert syndrome and related disorders (JSRD). Although the molar tooth sign and other important clinical features of the JS may be seen in these syndromes, they usually have supplementary prominent features. Author present a case of Joubert syndrome and related disorder in a term newborn delivered in the hospital of Government Medical College, Haldwani with multiple congenital anomalies. Macrocephaly, facial dysmorphism, polydactyly left hand and bilateral ballotable lumbar lump (multicystic dysplastic kidney). MRI showed molar tooth configuration of superior cerebellar peduncles, dilatation of lateral and third ventricles with aqueductal stenosis with arachnoid cyst (unusual association).