PERINATAL LETHAL FORM OF GAUCHER'S DISEASE PRESENTING WITH HEMOSIDEROSIS

Renu Sharma; Mark L. Hudak; Anthony A. Perszyk; Bangalore R. Premachandra; Hongbo Li; Carmela Monteiro

doi:10.1055/s-2000-9419

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Am J Perinatol 2000; Volume 17(Number 04): 201-206
DOI: 10.1055/s-2000-9419

PERINATAL LETHAL FORM OF GAUCHER'S DISEASE PRESENTING WITH HEMOSIDEROSIS

Renu Sharma, Mark L. Hudak, Anthony A. Perszyk² , Bangalore R. Premachandra, Hongbo Li¹ , Carmela Monteiro¹

Departments of Pediatrics
¹Pathology at the University of Florida Health Science Center, and the
²Division of Genetics, Nemours Children's Clinics, Jacksonville, Florida

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Publication Date:
31 December 2000 (online)

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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

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