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 |
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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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