Giant Axonal Neuropathy: Clinical, Radiological, and Genetic Features.

INTRODUCTION: Giant axonal neuropathy (GAN) is an inherited neurodegenerative disorder caused by mutations in the GAN gene. It affects both the central and peripheral nervous systems. We discuss clinical, electrophysiological, radiological and genetic features in three new unrelated patients with GAN. METHODS: Three pediatric patients with suspected GAN were included. The diagnosis was considered in patients with early onset polyneuropathy and characteristic hair with central nervous system involvement or suggestive neuroimaging findings. Biochemical, metabolic and electrophysiological investigations were performed. Diagnosis was confirmed by targeted sequencing of the GAN gene. RESULTS: All the three patients were found to have biallelic mutations in GAN gene. Peripheral neuropathy, characteristic hair, and cerebellar dysfunction were present in all three while bony deformities, cranial nerve involvement and intellectual disability were seen variably. Neuroimaging showed a spectrum of findings which are discussed. CONCLUSION: GAN is a clinically and radiologically heterogeneous disease where genetic testing is necessary for a definite diagnosis and counselling. With facilities for testing becoming increasingly available, the spectrum is likely to expand further.

Hemispherotomy in an infant with hemimegalencephaly.

Hemimegalencephaly (HME) is a rare hamartomatous congenital malformation of the brain. The epilepsy pattern in HME can be partial seizures or may present as spasms as in epileptic encephalopathy. Epilepsy associated with HME is usually resistant to antiepileptic drugs and requires surgical intervention. Hemispheric disconnection has been reported to be efficient in seizure control and prevents further cognitive injury and developmental delay. We report a case of HME, who underwent a two-stage hemispherotomy due to complications in the first surgery. She had more than 90% reduction of seizures with good developmental outcome on follow-up. Thus, despite risks of the procedure, early surgery should be preferred in infants with HME.