Clinical and neuroradiological profile in pontocerebellar hypoplasia: A single-center experience

Abstract

Objective: Pontocerebellar hypoplasia (PCH) constitutes an autosomal recessive heterogeneous group of neurodegenerative/neurodevelopmental disorder of pons and cerebellum with onset in prenatal period. Given the paucity of data on PCH from developing countries, we aimed to discuss the clinical, radiological profile and outcome of four infants with pontocerebellar hypoplasia attending our center. Methods: Data of children with psychomotor retardation seen between January 2015 and December 2015 at Neurodevelopmental clinic, PGIMER, Chandigarh was retrieved. PCH was defined by clinical and radiological criteria. Clinical features included were; delay in attainment of milestones in more than two developmental domains accompanied by severe microcephaly. Radiological evidence of cerebellar volume loss with hypoplasia of pons was included. Patient charts were reviewed for clinical features, neuroimaging, electroencephalography, biochemical investigations including serum and cerebrospinal lactate. Molecular genetic testing for the common p.A307S mutation in TSEN54 of the cases and their parents were also analyzed. Results: During this period 101 children with psychomotor retardation were evaluated at our center. Of the 101, four children with clinical and radiological evidence of Pontocerebellar hypoplasia. In addition to psychomotor retardation and severe microcephaly, spasticity; bipyramidal signs; epileptic spasms were universal in all four children. Three of the four children had optic atrophy and two had sensorineural hearing loss. Severe cerebellar hypoplasia with attenuated pons was seen in all four children. One child each had dragonfly and butterfly appearance of cerebellum on coronal section. The commonest TSEN54 p.A307S mutation in children and their parents was not detected. Conclusion: A heightened index of suspicion for pontocerebellar hypoplasia is merited in infants with severe psychomotor retardation and progressive microcephaly. Absence of the commonest TSEN54 p.A307S mutation may suggest the possible role of other novel mutations in our cohort.