Joubert syndrome with oculomotor apraxia: a case report

Abstract In this paper, a 7 month old male case born to a first degree cousin marriage, referred to our department for oculomotor apraxia and hypotonia, diagnosed as having Joubert syndrome is discussed. Broad forehead, depressed nasal bridge, hypertelorism, hypotonia and oculomotor apraxia were found in physical examination. Pulmoner stenosis was reported in echocardiography. His peripheral blood cytogenetic analysis revealed 46, XY normal constitutional karyotype. “Molar tooth sign”, a pathognomonic finding for this syndrome was observed in cranial magnetic resonance images. In Joubert syndrome; dysmorphic skeletal findings, liver and kidney problems can be observed. In early diagnosed cases, like our case, clinical follow up is important for detetion of the liver and kidney involvement. Key words: Joubert syndrome, oculomotor apraxia, molar sign, hypotonia, hypertelorism. Ozet Makalede 1. derece kuzen evliligi bulunan ailenin okulomotor apraksi sikayeti olan ve Joubert sendromu tanisi almis 7 aylik erkek cocugu sunulmaktadir. Fizik muayenede genis alin yapisi, basik burun koku, hipertelorizm, hipotoni ve okulomotor apraksi saptanmistir. Ekokardiyografi (EKO) pulmoner stenoz varligini gostermistir. Olgunun periferik kan sitogenetik analizinde 46, XY normal karyotip yapilanmasi bulunmus olup, kranial MR sonucunda bu sendrom icin tani koydurucu olan “molar dis” gorunumu saptanmistir. Bu taniyi alan olgularda dismorfik iskelet yapisi, karaciger ve bobrek tutulumu bulgulari da olabilecegi goz onunde bulundurulmalidir. Olgumuz gibi erken tani konan hastalarda bobrek ve karaciger tutulumu yonunden klinik takip onemlidir. Anahtar sozcukler: Joubert sendromu, okulomotor apraksi, molar dis gorunumu, hipotoni, hipertelorizm.