Phenotypes of a toddler with hereditary sensory and autonomic neuropathy type IV: comparing with normal: A case report.

Autor:	Xu Q; Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research, Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, China., Wang Y; Department of 2nd Infections, Kunming Children's Hospital, Kunming, China., Zhou Y; Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research, Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, China., Zhang L; Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research, Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, China., Xiang X; Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research, Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, China., Xie Y; Department of Pathology, Kunming Children's Hospital, Kunming, China., Lu J; Department of Radiology, Kunming Children's Hospital, Kunming, China., Li L; Department of Electroencephalogram, Kunming Children's Hospital, Kunming, China., Zhu Y; Department of 2nd Infections, Kunming Children's Hospital, Kunming, China., Zhang Z; Department of Dermatology, Kunming Children's Hospital, Kunming, China., Zhang T; Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research, Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, China., Li L; Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research, Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, China.
Jazyk:	angličtina
Zdroj:	Medicine [Medicine (Baltimore)] 2024 Jan 19; Vol. 103 (3), pp. e36955.
DOI:	10.1097/MD.0000000000036955
Abstrakt:	Rationale: Hereditary sensory and autonomic neuropathy type IV (HSAN IV) may be misdiagnosed because of low awareness among clinical professionals and overlap with other subtypes of congenital insensitivity to pain (CIP). Patient: The patient was a 1-year-and-5-months-old boy whose main symptoms were delayed psychomotor development and recurrent fever. Whole-exome sequencing (WES) revealed a compound heterozygous mutation (c. 1927C > T, c. 851-33T > A) in the NTRK1 gene of the child. Pathological analysis showed decreased autonomic small nerve fibers, sparse hair follicles, and atrophy of the sweat glands. Sweat glands lack innervating nerve fibers. Brain magnetic resonance imaging (MRI) of the patient showed delayed myelination in the brain, slightly enlarged bilateral lateral ventricles, and patchy abnormal signals in the brain. Diagnosis: hereditary sensory and autonomic neuropathy type IV (HSAN IV). Intervention: Inform parents about the illness and take good care of the child. Outcomes: The children had less self-harming behavior and no painless fractures during follow-up at 2 years. Lessons: This report describes the pathological and imaging features and clinical manifestations of a child with HSAN IV in early life to provide a reference for the early diagnosis of the disease. Early diagnosis can help avoid self-mutilation and painless injury and reduce wound infection. Competing Interests: The authors have no conflicts of interest to disclose. (Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)
Databáze:	MEDLINE
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