European Journal of Biomedical and Pharmaceutical Sciences

A RARE CASE OF JOUBERT SYNDROME WITH HEPATIC ABNORMALITY: COACH SYNDROME

Dr. Priyanka Borah* and Prof. (Dr.) Parul Dutta, MD, DMRD

ABSTRACT

Joubert syndrome is a very infrequently found autosomal recessive neurological disorder characterized by complex brainstem malformation and hypoplasia of the cerebellar vermis. COACH syndrome, a rarer subtype, can affect multiple systems and lead to varied phenotypic spectra. We present a case of a 9-month-old girl, presenting to the pediatric outpatient department with developmental delay, abnormal eye movements, ataxia, hypotonia and episodes of hyperpnea-apnea. Hypoplasia of cerebellar vermis with thickened and elongated bilateral superior cerebellar peduncle gave rise to typical “Molar tooth” sign and “batwing” appearance of fourth ventricle on MRI. Based on typical imaging features of Joubert syndrome, positive family history and evidence of ocular and hepatic involvement along with genetic confirmation, a diagnosis of COACH syndrome was made. The typical clinicoradiological features of this rare disorder can guide us through the diagnostic dilemma to make an early diagnosis and help in taking a timely appropriate intervention.

Keywords: Joubert syndrome, COACH syndrome, Molar tooth sign, Batwing appearance, Ciliopathy.