Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B

Background Pyruvate carboxylase (PC) is a key enzyme for gluconeogenesis. PC deficiency (PCD) an extremely rare autosomal recessive metabolic disease and divided into three types. Type B PCD clinically featured by lactic acidosis, hyperammonemia, hypercitrullinemia, hypotonia, abnormal movement, seizures. Case presentation Here, we report the first case of type in China, presenting with intractable acidosis shortly after birth. A compound heterozygous mutation gene was identified whole-exome sequencing, NM_001040716.2: c.1154_1155del c.152G>A, which were inherited from her asymptomatic parents, respectively. Furthermore, prenatal neuroradiological presentations including widened posterior horns lateral ventricles, huge subependymal cysts, increased biparietal diameter head circumference concerned. Symptomatic treatment taken infant died at 26 days. Conclusion To our knowledge, this minimum gestational age (22w5d) that’s when onset neuroradiologic phenotype observed. has poor prognosis lacks effective treatment, so paper shared to highlight importance diagnosis absence family history.