Find in Library
Search millions of books, articles, and more
Indexed Open Access Databases
Congenital insensitivity to pain with anhidrosis and compensatory hyperhidrosis
oleh: Aradhana Rout, Sandeep Arora, Shamsher Singh Dalal, Sudeep Kumar
| Format: | Article |
|---|---|
| Diterbitkan: | Wolters Kluwer Medknow Publications 2021-01-01 |
Deskripsi
Hereditary sensory and autonomic neuropathy is a rare syndrome characterized by congenital insensitivity to pain, temperature changes, and an autonomic nerve formation disorder. We report an 8-year-old boy who presented with late-onset of self-mutilating behavior, insensitivity to pain, temperature, and anhidrosis with compensatory hyperhidrosis. Exome sequencing revealed a mutation of the SCN9A gene at chromosome 2 with nucleotide change c. G554A/p. Arg185His at exon 5 along with HSPB1 mutation at chromosome 5.