Clinico-Investigative Profile of Hereditary Spastic Paraplegia in Children

INTRODUCTION: Hereditary spastic paraplegia (HSP) is a group of neurogenetic disorders seen mainly in adults. With the advancement in genetics, more than 78 types of HSP have been identified, with increasing identification of HSP in children. However, there is scant literature on this from India. MATERIALS AND METHODS: Retrospective chart review of patients with HSP diagnosed in the last 6 years was done. The data were extracted and analyzed. RESULTS: A total of 11 patients had a diagnosis of HSP (genetically confirmed), with mean age of presentation at 21.7 months. The main symptom at the time of presentation was delayed walking and/or abnormal gait in the form of tip-toeing and scissoring of limbs. The mean delay in diagnosis was 5.2 years after initial presentation. MRI of the presented children showed mainly thinning of corpus callosum and white-matter changes. All of them had gradual worsening spasticity, despite physiotherapy and drugs. Except one, all children had recessive form of spastic paraplegia. Child with autosomal dominant spastic paraplegia had heterozygous mutation in SPAST gene, which is known to present in the first 2 years of life. CONCLUSIONS: HSP is probably not uncommon. Recessive form of HSP is more frequently seen in children. Because of lack of awareness, there is delay in reaching the final diagnosis.