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Clinico-Investigative Profile of Hereditary Spastic Paraplegia in Children

Mahesh Kamate1, Mayank Detroja2

  • 1Division of Pediatric Neurology, Department of Pediatrics, KAHER University's J N Medical College, In-charge Child Development Centre, KLES Prabhakar Kore Hospital, Belgaum, Karnataka, India.

Annals of Indian Academy of Neurology
|July 31, 2019
PubMed

Insights

Hereditary spastic paraplegia (HSP) is likely underdiagnosed in Indian children, with the recessive form being more common. Early recognition and genetic testing are crucial for timely diagnosis and management of this neurogenetic disorder.

Area of Science:

  • Neurogenetics
  • Pediatric Neurology

Background:

  • Hereditary spastic paraplegia (HSP) is a group of neurogenetic disorders primarily affecting adults.
  • Genetic advancements have identified over 78 HSP types, with increasing pediatric cases.
  • Limited literature exists on pediatric HSP in India.

Purpose of the Study:

  • To investigate the prevalence and characteristics of pediatric Hereditary Spastic Paraplegia (HSP) in India.
  • To highlight diagnostic challenges and patterns of HSP in Indian children.

Main Methods:

  • Retrospective chart review of genetically confirmed HSP patients over six years.
  • Analysis of clinical presentation, diagnostic delay, and MRI findings.

Main Results:

  • Eleven pediatric HSP cases identified, presenting at a mean age of 21.7 months.
  • Common symptoms included delayed walking, tip-toeing, and scissoring gait.
  • Average diagnostic delay was 5.2 years; MRI revealed corpus callosum thinning and white-matter changes.
  • Most cases were recessive HSP; one dominant case had a SPAST gene mutation.

Conclusions:

  • Pediatric HSP may be more prevalent in India than previously thought.
  • Recessive forms of HSP are more common in children.
  • Lack of awareness contributes to significant diagnostic delays.
Abstract

Keywords:
Hereditary spastic paraplegiageneticsmagnetic resonance imaging

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