Journal of South Asian Association of Pediatric Dentistry

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VOLUME 4 , ISSUE 3 ( October-December, 2021 ) > List of Articles

CASE REPORT

NTRK1 Gene Mutation-associated Hereditary Sensory and Autonomic Neuropathy

Richa Mishra, Aditi Kapur, Rakesh Pilania, Sarojini Rai

Keywords : HSAN, Rare disease, SIB

Citation Information : Mishra R, Kapur A, Pilania R, Rai S. NTRK1 Gene Mutation-associated Hereditary Sensory and Autonomic Neuropathy. J South Asian Assoc Pediatr Dent 2021; 4 (3):190-192.

DOI: 10.5005/jp-journals-10077-3088

License: CC BY-NC 4.0

Published Online: 07-01-2022

Copyright Statement:  Copyright © 2021; The Author(s).


Abstract

Rare diseases, however intriguing they may seem, are often a dilemma in terms of diagnosis and treatment planning, especially owing to scanty literature among various age-groups. Being presented is a case of a 10-month-old child with congenital insensitivity to pain, otherwise known as Hereditary Sensory Autoneuropathy (HSAN) Type 5. The child was reported with Self-injurious Behavior (SIB), recurrent infections, corneal scarring, and spontaneous tooth mobilities. Upon a series of stepwise diagnostic workup, this was found to be a rare case of HSAN5. The genetic basis of the disorder was found to be a mutation in the NTRK1 gene, which is otherwise most commonly involved in HSAN4, however phenotypic features of the latter were not evident. Supportive treatment and counseling were key in providing care to the child.


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