ABSTRACT
A term infant with hydrops fetalis presented with hypotonia, massive splenomegaly,
renal failure, and severe hyperferritinemia. Multiple organ failure, myoclonus, and
opisthotonus ensued and she died at 15 days of age. High rounded forehead, large open
fontanel, and a small recessed chin led to initial premortem diagnosis of Zellweger
syndrome, but her plasma profile of long chain fatty acid was normal. Her subsequent
clinical course and findings of postmortem examinations were consistent with perinatal
lethal form of Gaucher's disease (PLGD). The diagnosis was confirmed by deficiency
of enzyme beta-glucocerebrosidase in white blood cells and in cultured fibroblasts.
In addition to the crossover features of Zellweger phenotype, this infant exhibited
a number of unusual features including, severe hyperferritinemia, rapid progression
of splenomegaly, and absence of icthyosis.
KEYWORD
Perinatal lethal form of Gaucher's disease - nonimmune hydrops fetalis - hyperferritinemia
- splenomegaly in neonate - icthyosis