Hereditary spastic paraplegia-a differential for  spastic paraplegia in children

Niharika Shetty; Sahana Devadas; Mallesh Kariappa

doi:10.18203/2349-3291.ijcp20205526

Authors

Niharika Shetty Department of Pediatrics, CHC Uppinangady, Karnataka, India
Sahana Devadas Department of Pediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India
Mallesh Kariappa Department of Pediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20205526

Keywords:

Hereditary spastic paraplegia, Paediatrics, Neurodegenerative disorder

Abstract

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders with familial origin mainly affecting the lower limbs. It has a prevalence of 3-10/100,000. The diagnosis is by symptomatology, clinical examination and neuroimaging to rule out other causes of spastic paraplegia. The diagnosis is confirmed by genetic analysis. Since this disorder is slowly progressive with nonspecific MRI brain findings the diagnosis can be delayed with delay in the start of rehabilitation measures. This disorder is usually diagnosed in the adult life and the literature has very few cases of paediatric HSP and hence we are reporting a case of HSP. Here we present the case of two siblings who presented to us with progressive weakness of both the lower limbs.

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References

Harding AE. Hereditary “pure” spastic paraplegia. In: Harding A, editor. The Hereditary Ataxias and Related Disorders. Edinburgh, UK: Churchill Livingstone; 1984;191-213.

Salinas S, Proukakis C, Crosby A, Warner TT. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol. 2008;7:1127-38.

Fink JK. Hereditary spastic paraplegia overview. In: Gene-clinics: Medical Genetics Knowledge Base. Seattle University of Washington. Available at http://www.geneclinics.org. Accessed on 10/08/2020.

Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. J Med Genet. 2014;51:137-42.

Began W, Maia M. Strumpell’s familial spastic paraplegia: genetics and neuropathology. J Neurol Neurosurg Psych. 1974;37(1):8-20.

Fink JK. Advances in the Hereditary spastic paraplegias, Exp Neurol, 2003,184(1):S106-S110.

McDermott CJ, Burgess CE, Kirby J. UK and Irish HSP consortium, clinical features of hereditary spastic paraplegia due to spastic mutation. Neurol. 2006;67(1):45-51.