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

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.

The application of magnetic resonance imaging and diffusion-weighted imaging in the diagnosis of hypoxic-ischemic encephalopathy and kernicterus in premature infants.

BACKGROUND: To explore the application of magnetic resonance imaging (MRI) and diffusion-weighted imaging (DWI) in the diagnosis of hypoxic-ischemic encephalopathy and kernicterus in premature infants. METHODS: Fifty-eight premature infants with hypoxic-ischemic encephalopathy and fifty-eight premature infants with kernicterus who were examined and treated in our hospital between January 2018 and January 2021 were assigned to the observation group or the control group. All patients were examined by MRI imaging and DWI imaging, and the examination results were compared between the two groups. RESULTS: No significant differences were found in sensitivity, specificity, positive predictive value, or negative predictive value between the observation group and the control group (P>0.05). MRI could clearly visualize the signal changes of patients, whereas DWI did not show any signal changes. There was no significant difference between MRI and DWI in the diagnosis of hypoxic-ischemic encephalopathy in premature infants. Further, there was no significant difference in the diagnostic performance of MRI between the observation group and the control group (P>0.05). However, the diagnostic performance of DWI in the control group was better than that in the observation group, and the difference was statistically significant (P<0.05). CONCLUSIONS: MRI and DWI imaging have high detection rates for the diagnosis of hypoxic-ischemic encephalopathy and kernicterus in premature infants. These imaging methods can benefit the treatment of premature infants and have important clinical application value.