Neurological features in Gaucher's disease during enzyme replacement therapy.
This report describes two patients with Gaucher's disease who had unusual clinical symptoms during enzyme replacement therapy. One patient was a female with type 3 Gaucher's disease. She developed a pericardial effusion at 7 y of age, which contained many Gaucher cells despite enzyme replacement therapy. She died from neurological deterioration during enzyme replacement therapy, despite an improvement in her visceral manifestations. The other patient is a male with type 2 Gaucher's disease, who has achieved long-term survival after being supported by mechanical ventilation and enzyme replacement therapy. While on enzyme replacement therapy at the age of 4 y, he suffered a generalized cutaneous disease which was clinically diagnosed as ichthyosis.


CONCLUSIONS
These cases suggest that ordinary enzyme replacement therapy is insufficient for some of the non-neurological manifestations of severe types of Gaucher's disease.
Department of Pediatrics, Hiroshima University School of Medicine, Japan.
H
H
Ono
M
M
Fujiwara
K
K
Ito
H
H
Ueda
N
N
Mizoguchi
N
N
Sakura
D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000473:pathology*; D002648:Child; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000008:administration & dosage / Q000627:therapeutic use*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010490:Pericardial Effusion / Q000000981:diagnostic imaging; D014463:Ultrasonography
C070292:alglucerase; D005962:Glucosylceramidase