神经系统疾病

“The Calm before the Storm”: Late Onset Glycine Encephalopathy Masquerading as Gastro-oesophageal Reflux.

Abstract

Shanawaz Hussain, Manish Prasad and Santosh Mordekar

Glycine encephalopathy also known as ‘Nonketotic Hyperglycinemia (NKH)’ is an autosomal recessive disorder caused by a defect in the glycine cleavage enzyme complex (GCS). The classic neonatal form typically presents with generalised hypotonia, lethargy, seizures, apnoeas and usually death by one year of age. In this report, we describe an unusual presentation of an infantile onset glycine encephalopathy presenting at 8 weeks of age with symptoms suggestive of gastro-oesophageal reflux (GOR) episodes. A normal neonatal developmental course in the first few months of life is the exception in this phenotype and has been rarely described in the literature. To the best of our knowledge this is the first case of glycine encephalopathy reported with initial symptoms suggestive of GOR.