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D-bifunctional protein deficiency caused by HSD17B4 gene mutation in a neonate
Shu-Mei Yang1, Chuan-Ding Cao1, Ying Ding1
1Department of Neonatology, Xiangya Hospital, Central South University, Changsha 410008, China (Yue S-J,
Insights
This study details a rare case of D-bifunctional protein deficiency in a neonate, identified by HSD17B4 gene mutations. Early diagnosis is crucial for managing this severe neurological disorder.
Area of Science:
- Biochemistry
- Genetics
- Neuroscience
Background:
- D-bifunctional protein deficiency (DBPD) is a rare peroxisomal disorder.
- It results from mutations in genes involved in fatty acid metabolism.
- DBPD presents with diverse neurological and developmental symptoms.
Observation:
- A 15-day-old infant exhibited intractable seizures, hypoergia, hypotonia, and hearing loss.
- Neurophysiological findings included abnormal brainstem auditory evoked potentials and burst-suppression EEG.
- Elevated serum C26:0 very-long-chain fatty acids and compound heterozygous HSD17B4 mutations were identified.
Findings:
- The case confirms HSD17B4 gene mutations as a cause of DBPD.
- Clinical presentation highlights the overlap with other neonatal epileptic encephalopathies.
- Biochemical and genetic markers aid in diagnosis.
Implications:
- Highlights the importance of early genetic and biochemical testing for DBPD.
- Emphasizes the need for differential diagnosis from conditions like Ohtahara syndrome.
- Informs understanding of the genotype-phenotype correlation in HSD17B4-related disorders.
Abstract:
A 15-day-old boy was admitted to the hospital due to repeated convulsions for 14 days. The main clinical manifestations were uncontrolled seizures, hypoergia, feeding difficulties, limb hypotonia, and bilateral hearing impairment. Clinical neurophysiology showed reduced brainstem auditory evoked potential on both sides and burst-suppression pattern on electroencephalogram. Measurement of very-long-chain fatty acids in serum showed that C26:0 was significantly increased. Genetic testing showed a pathogenic compound heterozygous mutation, c.101C>T(p.Ala34Val) and c.1448_1460del(p.Ala483Aspfs*37), in the HSD17B4 gene. This article reports a case of D-bifunctional protein deficiency caused by HSD17B4 gene mutation and summarizes the epidemiological and clinical features, diagnosis, and treatment of this disease, with a focus on the differential diagnosis of this disease from Ohtahara syndrome.
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