RHOMBENCEPHALO SYNAPSIS –  A  RARE CEREBELLAR ANOMALY

WITH GOMEZ LOPEZ HERNANDEZ SYNDROME

Dr Leema Pauline, Dr Viveka Saravanan, Dr Ravi

Institute of Child Health, Madras Medical College, Chennai

Introduction:

Rhombencephalo synapsis is an extremely rare cerebellar malformation characterized by vermian agenesis or hypogenesis and fusion of cerebellar hemispheres due to maldevelopment of rhombic lips in early fetal period. It may be occur as an isolated anomaly or associated with  vertebral fusion anomalies and Gomez- Lopez Hernandez syndrome.

Case vignette:

A four month old male child was referred to us for facial dysmorphism. First born to non consanguineous parents has not attained social smile or head control. Antenatal period uneventful.

Examination revealed a conscious child with turricephaly,  low set ears,  high arched palate  and rocker bottom feet. There was no nystagmus/ cataract/ squint. Had bilateral  temporal and parietal alopecia in scalp. Child was not following light, had bilateral corneal opacity. There was spasticity in lower limbs with brisk DTR.

Ophthalmic examination revealed bilateral corneal opacity, multiple abrasions due to bilateral corneal hyposthesia.  Fundi  normal. Bilateral hearing  normal.

MRI BRAIN showed fused cerebellar hemispheres in midline with absent vermis, small brainstem and posterior fossa , diamond shaped IV ventricle, thin corpus callosum and mild dilatation of ventricles.

Discussion:

Gomez Lopez Hernandez syndrome is a rare neurocutaneous syndrome which includes a triad of Rhombencephalo synapsis, trigeminal anesthesia leading to corneal opacity and scalp alopecia which is due to rhombencephalo synapsis and failure of development of trigeminal placodes.