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MOLAR TOOTH SIGN



Figure 1. CT brain shows partial vermian hypoplasia with elongated superior cerebellar peduncles giving a 'Molar Tooth Sign' in the midbrain.

Question:
Rajani H S, Narayanappa D
Department of Pediatrics, JSS Medical College, JSS Academy of Higher Education and Research, Mysore, India

Address for Correspondence: Dr. Rajani H S, Assistant Professor, Department of Pediatrics, JSS Hospital, Mahatma Gandhi Road, Mysore 570004, India. Email: drrajanihs@jssuni.edu.in

A 3 year old male child, first born of a consanguineous marriage diagnosed previously as cerebral palsy with epilepsy due to birth asphyxia presented to us with breakthrough seizures. He had global developmental delay, microcephaly, irregular breathing with intermittent hyperpnoea, horizontal nystagmus, strabismus and oculomotor apraxia. Fundus examination was normal. CT brain showed partial vermian hypoplasia with elongated superior cerebellar peduncles giving a 'Molar Tooth Sign' in the midbrain, hypoplastic corpus callosum and thinned out brain stem (Figure 1). Ultrasound abdomen was normal.
What is the diagnosis?

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