Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan

Autor: Aisha Khasawneh, Asma AL-Mustafa, Mohammad Shboul, Bruno Reversade, Amira Masri, Nathalie Escande-Beillard, Hanan Hamamy, Faris G. Bakri, Rama Jadallah
Rok vydání: 2018
Předmět:
Male
Pediatrics
medicine.medical_specialty
Microcephaly
Adolescent
Developmental Disabilities
Mutation
Missense
Consanguinity
Frameshift mutation
Tongue Diseases
Fingers
03 medical and health sciences
Young Adult
0302 clinical medicine
Congenital insensitivity to pain with anhidrosis
Skin Ulcer
Medicine
Missense mutation
Humans
Global developmental delay
Hereditary Sensory and Autonomic Neuropathies
Receptor
trkA
Child
Corneal Ulcer
Frameshift Mutation
Hip Dislocation
Congenital
Ulcer
Retrospective Studies
Jordan
business.industry
Amyloidosis
Arthritis
Infant
Newborn
Infant
Retrospective cohort study
General Medicine
Toes
medicine.disease
Pedigree
030220 oncology & carcinogenesis
Child
Preschool
Mutation
Surgery
Body-Weight Trajectory
Female
Neurology (clinical)
business
030217 neurology & neurosurgery
Zdroj: Clinical neurology and neurosurgery. 189
ISSN: 1872-6968
Popis: Objectives To present the clinical picture, the associated complications and the genetic findings of Jordanian patients diagnosed with Congenital insensitivity to pain with anhidrosis (CIPA). Patients and methods This is a retrospective study including 7 patients diagnosed with CIPA presenting to Jordan University Hospital neurology clinic between 2001 and 2017. Results Among five families, seven patients were diagnose with CIPA and followed for a period ranging from one month to 6 years. The initial symptom observed in all patients was high fever in the first few days after birth, decreased sensation to pain and decreased sweating were later noted. Poor weight gain, microcephaly and global developmental delay were present in most cases. All patients had tongue ulcerations. Fingers/toes ulcerations were present in 6/7 (86.0 %), hip joint dislocation in 3/7 (43.0 %), chronic arthritis and joint swelling in 6/7 (86.0 %), corneal ulcers in 4/7 (57.1 %) and kidney amyloidosis in 1/7 (13.0 %) of all patients. Death occurred in 4/7 (57.1 %) patients. Consanguinity was present in all families. Mutation analysis revealed three variants in NTRK1 gene. The frameshift (c.1860_1861insT; p.Pro621fs) mutation was common in our series. One patient carried a novel missense mutation (c.2170 G > A; p.Gly724Ser). The third missense mutation (C2125 G > T; p.Val709Leu) was reported in a previous study in one patient. Conclusion This cohort reveals a severe CIPA phenotype necessitating thorough multidisciplinary care and follow up.
Databáze: OpenAIRE
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