One novel HSD17B4 mutation in association with D-bifunctional protein deficiency: a case report and literature review

This article presents a case of a newborn who presented with hypotonia, feeding difficulties and refractory epilepsy shortly after birth, and was eventually diagnosed with D-bifunctional protein deficiency through whole-exome sequencing. The prognosis of this disease is poor, and symptomatic and supportive treatment is the main approach. Therefore, whole-exome sequencing is particularly important for definitive diagnosis when neonates present with generalized hypotonia, feeding difficulties and refractory epilepsy. In addition, a missense mutation [c.344A>T (p.Asp115Val)] is a newly discovered variant that deserve further study.