RT Journal
A1 Urbain G, Philippart M, Peremans J
T1 FAbry's disease with hypogammaglobulinemia and without angiokeratomas
JF Archives of Internal Medicine
JO Archives of Internal Medicine
YR 1969
FD July 1
VO 124
IS 1
SP 72
OP 76
DO 10.1001/archinte.1969.00300170074014
UL http://dx.doi.org/10.1001/archinte.1969.00300170074014
AB The differential diagnosis of the lipid storage diseases rests on a variety of clinical, histological, and biochemical findings. Only biochemical analyses of the stored lipids can provide comprehensive classification. This is illustrated in the report to follow. Several remarkable features in this patient's illness were (1) the absence of typical skin lesions; (2) an associated hypogammaglobulinemia, and (3) diagnosis which could only be made by biochemical studies.Patient Summary 
    A 23-year-old white man had a fever of unknown origin and was admitted to the Belgian Army Hospital in June 1965. In 1959, at the age of 17, he had an episode of acute colitis with hematochezia. He was treated with chloromycetin and was free of symptoms after two weeks. In 1964, he consulted a physician because of dyspnea and fatigue occurring with exercise. No clinical abnormalities were found other than a low-grade systolic murmur. A few months later, the patient