• Qinghua Xu, Yanchun Wang, Yuantao Zhou, Lu Zhang, Xiaoyi Xiang, Yucheng Xie, Jiantian Lu, Lei Li, Ying Zhu, Zhao Zhang, Tiesong Zhang, and Li Li.
• 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.
• Medicine (Baltimore). 2024 Jan 19; 103 (3): e36955e36955.

RationaleHereditary 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).PatientThe 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.Diagnosishereditary sensory and autonomic neuropathy type IV (HSAN IV).InterventionInform parents about the illness and take good care of the child.OutcomesThe children had less self-harming behavior and no painless fractures during follow-up at 2 years.LessonsThis 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.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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