Perinatal lethal form of Gaucher's disease presenting with hemosiderosis.
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.
Sharma
R
R
Department of Pediatrics, University of Florida Health Science Center, Jacksonville 32209-6511, USA.
Hudak
M L
ML
Perszyk
A A
AA
Premachandra
B R
BR
Li
H
H
Monteiro
C
C
D017809:Fatal Outcome; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis*; D005962:Glucosylceramidase / Q000097:blood; D006486:Hemosiderosis / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D009102:Multiple Organ Failure
D005962:Glucosylceramidase