[P1-199] An infant with encephalopathy and hepatopathy due to congenital disorder of glycosylation type 1a
[Objectives] Congenital disorder of glycosylation is a rare disorder of inherited metabolic diseases. This study aimed to investigate the clinical and laboratory features of a patient with congenital disorder of glycosylation type 1a (CDG-1a). [Method] The clinical features, laboratory findings and PMM2 gene mutations of a infant with encephalopathy and hepatopathy due to CDG-1a was analyzed. [Result] The proband, a boy, was admitted because of skin rash and multi-organ damage at the age of 4 months. Psychomotor retardation and muscle weakness were noticed at the age of 3 months. Malnutrition, abnormal distribution of subcutaneous fat, hypotonia, liver damage and mild renal dysfunction were found. Her development quotient was 36. Cranial MRI revealed widening bilateral frontotemporal sulci and cerebellum atrophy, indicating the diagnosis of Dandy-Walker-like syndrome. On his PMM2 gene, two heterozygous mutations, c.430T>C (p.F144L) and c.713G>C (p.R238P), were detected, confirmed the diagnosis of CDG-1a. The parents carried each of these two mutations. The elder brother of the proband presented with psychomotor retardation and died at the age of 8 months due to liver and renal dysfunction with unknown cause. [Conclusion] In this study, a infant with encephalopathy and hepatopathy due to CDG-1a was diagnosed by PMM2 gene study. For the patients with mult-organ diseases of unknown cause, especially those with psychomotor retardation, strabismus, nipple depression and cerebellar atrophy, congenital disorder of glycosylation should be pay attention to. Genetic analysis is helpful for the diagnosis of the patient and the prenatal diagnosis of the disease.
The firsrt two authers contributed equally to this paper.
The firsrt two authers contributed equally to this paper.