ICNC Abstracts, ICNC 2018

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Clinico-investigative profile of Hereditary spastic paraplegia in children
Mayank Vrujlal Detroja, Mahesh Kamate

Last modified: 2018-09-13

Abstract


Introduction: Hereditary spastic paraplegia (HSP) is a neruogenetic disorder mainly seen in adults. With advances in genetics, more than 78 types of HSP have been described and there is increasing identificatin of HSP in children. However there is scant literature on this from India.

Methods: Retrospective chart review of patients with a diagnosis of HSP was done from Jan-2012 till June-2018. The data was extracted and analysed.

Results: Eleven patients had a diagnosis of HSP (genetically confirmed) with mean age of presentation 22.6 month (Range:10-36 months). Four of them were males. Main presentation was with delayed walking and/or abnormal gait in the form of tip-toeing anb scissoring of limbs. The mean delay in diagnosis was 4.5 years after initial presentation. MRI of five children showed thinning of corpus callosum. All of them gradual worsening spasticity despite physiotherapy and drugs. Except one, all children have recesive form of spastic paraplegia. Two siblings had mutation in DDHD2 gene, where as all others had mutation in different genes. Child with autosomal dominant spastic paraplegia had heterozygous mutation in SPAST gene, which is known to present in first two years of life.

Conclusions: HSP is probably not uncommon. Recessive form of HSP more frequently seen in children. Because of lack of awareness, there is delay in reaching the final diagnosis.


Keywords


Hereditary spastic paraplegia, MRI, SPG

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