Journal article
Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan.
- Masri A Department of Paediatrics, Division of Child Neurology, Faculty of Medicine, The University of Jordan, Jordan. Electronic address: masriamira69@hotmail.com.
- Shboul M Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid, 22110, Jordan. Electronic address: maalshboul@just.edu.jo.
- Khasawneh A Department of Family Medicine, The University of Jordan, Jordan. Electronic address: ayosh_881@yahoo.com.
- Jadallah R Department of Paediatrics, The University of Jordan, Jordan. Electronic address: rama_i88@hotmail.com.
- ALmustafa A Department of Paediatrics, The University of Jordan, Jordan. Electronic address: amsa982@gmail.com.
- Escande-Beillard N Institute of Medical Biology, A ⁎STAR, Singapore, Singapore. Electronic address: nathalie.escande@reversade.com.
- Hamamy H Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland. Electronic address: hananhamamy@yahoo.com.
- Bakri F Department of Medicine, Infectious Diseases and Vaccine Center, Faculty of Medicine, The University of Jordan, Jordan. Electronic address: fbakri@yahoo.com.
- Reversade B Human Genetics and Molecular Biology, Medical Laboratory Sciences, Faculty of Science Institute of Molecular and Cell Biology, A⁎STAR, Singapore, Singapore. Electronic address: bruno@reversade.com.
- 2019-12-17
Published in:
- Clinical neurology and neurosurgery. - 2020
English
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.
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.
- Language
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- English
- Open access status
- closed
- Identifiers
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- DOI 10.1016/j.clineuro.2019.105636
- PMID 31841741
- Persistent URL
- https://sonar.rero.ch/global/documents/271758
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