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Phenotypes of a toddler with hereditary sensory and autonomic neuropathy type IV: comparing with normal: A case
Qinghua Xu1, Yanchun Wang2, Yuantao Zhou1
1Kunming 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.
Insights
Hereditary sensory and autonomic neuropathy type IV (HSAN IV) is often misdiagnosed. Early diagnosis in children, supported by genetic testing and imaging, can prevent self-harm and injury.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Hereditary sensory and autonomic neuropathy type IV (HSAN IV) presents diagnostic challenges due to low awareness and overlap with other congenital insensitivity to pain (CIP) subtypes.
- Accurate diagnosis is crucial for managing this rare genetic disorder.
Observation:
- A case study of a 1-year-and-5-month-old boy with delayed psychomotor development and recurrent fevers.
- Whole-exome sequencing identified compound heterozygous mutations in the NTRK1 gene.
- Pathological findings included decreased autonomic small nerve fibers, sparse hair follicles, and sweat gland atrophy without innervation.
- Brain MRI revealed delayed myelination, enlarged ventricles, and abnormal brain signals.
Findings:
- Genetic analysis confirmed HSAN IV through specific NTRK1 gene mutations.
- Distinct pathological and neuroimaging features were observed in the affected child.
- Early intervention and parental guidance were implemented.
Implications:
- This case highlights the importance of recognizing HSAN IV's unique clinical, pathological, and imaging characteristics for early diagnosis.
- Prompt diagnosis and management can prevent severe outcomes like self-mutilation, painless injuries, and infections.
- Provides a reference for clinicians diagnosing HSAN IV in early childhood.
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.
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