Lysosmal Storage Disorders Presenting as Non-Immune Hydrops Fetalis: A Case Report

The frequency of NIHF (Non-immunological hydrops fetalis) and congenital ascites associated with LSD (Lysosomal storage disorders) is exceptionally rare. The reported incidence worldwide is about 1% with very limited reports from the MENA (Middle East and North Africa) region despite high incidence of consanguinity in the area. We report a case of NIHF with subcutaneous edema and congenital ascites as the main presenting sign which was diagnosed antenatally; subsequently LSD was diagnosed by enzymatic studies of amniotic fluid cultured cells after ruling out the most common conditions associated with fetal hydrops. A baby girl was delivered by spontaneous vaginal delivery at 33 weeks of gestation with generalized hydrops noted on physical examination. Diagnostic work up including lysosomal enzymes study confirmed the diagnosis of GM1 ganglisidosis. MRI (Magnetic resonance imaging) of the brain confirmed focal areas of hyper intensity with perivasculardistribution consistent with dilated VR (Virchow Robin) spaces. LSD are serious and genetic conditions with poor outcome so efforts should be made to institute the best screening strategy in the MENA region because of the high rate of intermarriages.LSD should be considered in the diagnosis of NIHF which is essential for genetic counseling as there is a high chance of recurrence considering the high degree of consanguinity in the region.