A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV).
HSAN
NTRK1
anhidrosis
corneal ulcers
Journal
Neuro-ophthalmology (Aeolus Press)
ISSN: 0165-8107
Titre abrégé: Neuroophthalmology
Pays: England
ID NLM: 8408966
Informations de publication
Date de publication:
Nov 2019
Nov 2019
Historique:
received:
16
04
2018
revised:
24
07
2018
accepted:
28
07
2018
entrez:
20
11
2019
pubmed:
22
8
2018
medline:
22
8
2018
Statut:
epublish
Résumé
Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV) or Congenital Insensitivity to pain and Anhidrosis is an autosomal recessive condition. It is characterized by absence of reaction to painful stimuli, anhidrosis, self-mutilating behaviour and episodic fever. We report a child with HSAN IV who presented primarily with recurrent corneal ulcers and the classical history helped us clinch the diagnosis. Molecular testing revealed a homozygous pathogenic frameshift mutation in
Identifiants
pubmed: 31741675
doi: 10.1080/01658107.2018.1506937
pii: 1506937
pmc: PMC6844510
doi:
Types de publication
Case Reports
Langues
eng
Pagination
310-312Informations de copyright
© 2018 Taylor & Francis Group, LLC.
Références
Lancet. 1978 Sep 2;2(8088):520-1
pubmed: 79883
Contemp Clin Dent. 2015 Jan-Mar;6(1):103-6
pubmed: 25684922
Am J Ophthalmol. 2006 Mar;141(3):472-7
pubmed: 16490492
Nat Rev Neurol. 2012 Jan 24;8(2):73-85
pubmed: 22270030
Nat Genet. 1996 Aug;13(4):485-8
pubmed: 8696348
Indian J Pediatr. 2017 Apr;84(4):332-333
pubmed: 28050684
Ann Indian Acad Neurol. 2012 Apr;15(2):134-6
pubmed: 22566729
Eur J Ophthalmol. 2002 Jan-Feb;12(1):60-5
pubmed: 11936447
Neurosci Biobehav Rev. 2018 Apr;87:1-16
pubmed: 29407522
Biomed Res Int. 2015;2015:805876
pubmed: 26451380
Orphanet J Rare Dis. 2007 Oct 03;2:39
pubmed: 17915006