Abstract
Joubert syndrome is a rare autosomal recessive neurodevelopmental disease characterized by abnormal breathing patterns composed of episodic tachypnea/apnea, hypotonia, ataxia, developmental delay, intellectual impairment, ocular impairment, renal cysts, and hepatic fibrosis. We report the case of a 4-year-old boy who presented with global developmental delay, bilateral nystagmus, and gaze instability with difficulty walking and maintaining an upright posture. A detailed examination revealed facial dysmorphic features with a depressed nasal bridge and deepened orbital sockets. Neurological examination yielded positive results for hypotonia, gait ataxia, bilateral horizontal pendular nystagmus, and a grade 1 ptosis more prominent in the right eye. However, no abnormal breathing patterns were observed in our case. Magnetic resonance imaging revealed the characteristic molar tooth sign and a batwing appearance of the fourth ventricle.
Highlights
Joubert syndrome (JS) is an autosomal recessive neurological disorder named after Marie Joubert in 1969 [1]
Joubert syndrome is a rare autosomal recessive neurodevelopmental disease characterized by abnormal breathing patterns composed of episodic tachypnea/apnea, hypotonia, ataxia, developmental delay, intellectual impairment, ocular impairment, renal cysts, and hepatic fibrosis
We report the case of a 4-yearold boy who presented with global developmental delay, bilateral nystagmus, and gaze instability with difficulty walking and maintaining an upright posture
Summary
Joubert syndrome (JS) is an autosomal recessive neurological disorder named after Marie Joubert in 1969 [1] It presents with abnormal oculomotor findings, hypotonia, ataxia, respiratory dysregulation, and developmental retardation owing to abnormalities of the cerebellum and brainstem [2,3,4]. A 4-year-old boy presented to the radiology department as a referred case from the department of pediatrics, where he was primarily admitted for cough, bilateral nystagmus, and gaze instability His past medical history revealed his difficulty in walking and maintaining an upright posture. The fourth ventricle appeared enlarged and triangular, giving it a slight batwing appearance (Figures 1-3) Based on these clinical findings, MRI scans, and family history, a diagnosis of JS was forwarded to the clinical team. Imaging depicts a deep interpeduncular fossa (yellow arrow) and prominent fourth ventricle (red arrow)
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