A case of Polymicrogyria with Alpha Dystroglycanopathy presented with milder form with intellectual disability and partial seizure

Abstract

Background : Congenital muscular dystrophy (CMD) refers to a group of muscular dystrophies that become apparent in early infancy or at birth. Muscular dystrophies are mostly genetic and a degenerative disease primarily affects voluntary muscles.
Introduction : Alpha dystroglycanopathies both phenotypically and genetically are heterogeneous group of disorders and a subgroup of these patients has characteristic brain imaging findings.
Material and methods: The case vignette shows a four year old girl presented in the OPD with history of throwing tantrums, delayed developmental milestones, irritability and anger outbursts. She had a history of admission in paediatric neurology indoor with complex partial seizures controlled by tab oxcarbazepine. She was born full term of non-consanguineous marriage by LUCS. There was progressive muscular weakness since early infancy with difficulty in sucking and breathing. No developmental regression was noticed.
Results : Her development quotient was found to be 46, plasma ammonia and lactate levels were normal, creatinine kinase was high (314 IU/L). MRI of brain revealed polymicrogyria, white matter changes and subcortical cerebellar cysts. The pattern recognition of MR imaging features may serve as a clue to the diagnosis of alpha dystroglycanopathy although definite diagnosis could be obtained only by muscle biopsy and genetic testing.
Conclusion : In Japan, Fukuyama disease is fairly common, second to Duchenne muscular dystrophy but milder form lie this case is rare. The mutation in FKTN gene which gives instructions for making a protein called fukutin, which chemically modify a protein alpha-dystroglycan. High
index of suspicion and early diagnosis is required to initiate prompt therapy which is mainly supportive with rigorous physiotherapy, antiepileptic drugs, parental and genetic counseling.