A case of infantile encephalopathy and hypopituitarism caused by HID1 gene mutation
This article reports a case of infantile encephalopathy and hypopituitarism caused by HID1 gene mutation.The child developed symptoms during infancy,including recurrent fever,pituitary dysfunction,and decreased muscle tone,gradually developing into severe developmental delay and refractory epilepsy.Head magnetic resonance imaging showes significant thinning of corpus callosum,and whole genome sequencing reveales compound heterozygous mutation in HID1 gene:c2002C＞Tp,c.1213-c.1215delTTCp.There is currently no effective treatment for infantile encephalopathy and hypopituitarism caused by HID1 gene mutation.The child was given symptomatic supportive treatment such as anti-infection,oral Levothyroxine Sodium Tablets and Levetiracetam.The child patient was followed up for 27 months after discharge,and passed away at the age of two years and six months due to respiratory complications and refractory epileptic seizures.Genetic testing is a key method for diagnosing this disease.This article further enriches clinical phenotype and genetic mutation spectrum of infantile encephalopathy and hypopituitarism,providing important reference basis for disease diagnosis and genetic counseling.
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