Phenotypes of a toddler with hereditary sensory and autonomic neuropathy type IV: comparing with normal: A case report.

ABSTRACT:

Rationale

Hereditary sensory and autonomic neuropathy type IV (HSAN IV) may be misdiagnosed because of low awareness among clinical professionals and overlap with other subtypes of congenital insensitivity to pain (CIP).

Patient

The patient was a 1-year-and-5-months-old boy whose main symptoms were delayed psychomotor development and recurrent fever. Whole-exome sequencing (WES) revealed a compound heterozygous mutation (c. 1927C > T, c. 851-33T > A) in the NTRK1 gene of the child. Pathological analysis showed decreased autonomic small nerve fibers, sparse hair follicles, and atrophy of the sweat glands. Sweat glands lack innervating nerve fibers. Brain magnetic resonance imaging (MRI) of the patient showed delayed myelination in the brain, slightly enlarged bilateral latera

SUBMITTER: Xu Q 

PROVIDER: S-EPMC10798782 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature