Niemann–Pick disease in a child with congenital cytomegalovirus infection

Abstract

In this publication, we present own clinical observation demonstrating the early diagnosis of NiemannPick disease, type C (NPС) in a child with congenital cytomegalovirus infection (сCMV). NiemannPick disease is a rare orphan inherited disease with an autosomal recessive type of inheritance that belongs to lysosomal accumulation diseases. There are 4 clinical phenotypes of NiemannPick disease (A, B, C, D), among which types A and B are associated with a mutation of the lysosomal sphingomyelinase (SMPD1) gene, and types C and D are associated with mutations in the NPC1 or NPC2 genes responsible for intracellular transport of cholesterol and lipids. The disease is a form of glycosphingolipidosis, which is accompanied by progressive degenerative processes in the target organs. The incidence of NPС is approximately 1 case per 100,000 live births. During the newborn period, NPС may occur under the guise of the other inherited or acquired diseases, and sometimes be combined with them. In particular, the manifest form of neonatal cytomegalovirus infection has similar target organs for damage to the NPС: the liver, the spleen, and the Central nervous system. The multi-system nature of clinical manifestations requires a differential diagnosis and clarification as early as possible. The polymorphism of clinical manifestations and the lack of diagnostic tests for mass screening make it is difficult to diagnose the disease. In the given clinical case, the diagnosis of NPС in a child with congenital cytomegаlovirus infection was established using DNA diagnostics of NPC1 gene mutation at the age of 2.5 months of life, which allowed determining the long-term management and medical observation.