Hereditary sensory autonomic neuropathy type V: a rare case report

Madhura S.; Sowrabha .; Manjunath .; Savitha M. R.

doi:10.18203/2349-3291.ijcp20180579

Authors

Madhura S. Department of Pediatrics, MMCRI, Mysore, Karnataka, India
Sowrabha . Department of Pediatrics, MMCRI, Mysore, Karnataka, India
Manjunath . Department of Pediatrics, MMCRI, Mysore, Karnataka, India
Savitha M. R. Department of Pediatrics, MMCRI, Mysore, Karnataka, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20180579

Keywords:

Congenital insensitivity to pain, Corneal opacity, Hereditary sensory autonomic neuropathy

Abstract

Hereditary sensory autonomic neuropathy (HSAN) type V is a rare autosomal recessive condition caused by mutation in neurotrophic tyrosine kinase receptor type 1 gene located on chromosome 1 (1q21-1q22). It is characterized by pain insensitivity, partial anhydrosis without mental retardation and unimpaired touch and pressure sensitivity. Self-mutilation injury involving teeth, lips, tongue, ears, eyes, nose and fingers are invariable feature of this disorder. This rare disorder can be extremely challenging for the physicians as the symptoms like pain, tenderness is absent and hence most of the symptoms and injuries are frequently missed. Here we report a case of 1-year old female child with HSAN type V, having the typical clinical manifestations of pain insensitivity causing self-mutilation. Apart from the classical manifestations of HSAN type V, our case also had bilateral corneal opacity.

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