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Interphalangeal joint involvement in gaucher's disease type i resembling juvenile rheumatoid arthritis.

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Gaucher’s disease, a genetically determined
deficiency of P-glucosidase, causes accumulation of
glycolipids in reticuloendothelial cells. Skeletal involvement, mainly of long bones and large joints, is
very common in type I (adult form) of the disease. We
describe a 10-year-old boy with Gaucher’s disease,
type I, who had acute arthritis of the proximal interphalangeal (PIP) joints. This unusual manifestation of
the disease in small joints was the main reason for his
referral to the hospital, after he had been misdiagnosed
as having juvenile rheumatoid arthritis (JRA).
Case Report. A I0-year-old Ashkenazi Jewish
boy was referred to the Hadassah University Hospital
because for 10 days he had suffered painful swelling in
the proximal joints of the fingers. Hepatosplenomegaly was also present, and he had been diagnosed
elsewhere as having JRA.
His history and psychomotor development had
been uneventful, except for a slight abdominal distention for the previous 2 years, nonspecific pains in his
right thigh for 6 months, and 1 episode of a swollen
knee during that same period. In our initial physical
examination, we saw a pale boy in good general
condition. Tender spindle-like swellings were noted in
the PIP of the right fourth finger and in the third left
From the Department of Pediatrics, Hadassah University
Hospital, Ein-Kerem, Jerusalem, Israel.
Zvi Weizman, MD: Instructor in Pediatrics; Alexander
Tennenbaum, MD: Instructor in Pediatrics; Shaul Yatziv, MD:
Associate Professor in Pediatrics, Hadassah-Hebrew University
Medical School, Jerusalem, Israel.
Address reprint requests to S. Yatziv, MD, Department of
Pediatrics, Hadassah University Hospital, P.O. Box 12000, Jerusalem 91120, Israel.
Submitted for publication August 24, 1981; accepted November 3, 1981.
Arthritis and Rheumatism, Vol. 25, No. 6 (June 1982)
finger (Figure 1). A mild systolic murmur was heard
along the left sternal border. When we palpated his
protuberant abdomen, we found a slightly enlarged
liver and a huge hard spleen 8 cm below the costal
Laboratory tests showed an iron-deficiency
anemia of 9.3 gm% hemoglobin, a borderline leukopenia of 4,800/mm3, and minimal thrombocytopenia of
90,000/mm3. Results of tests for Rose-Waaler, latex,
lupus erythematosus cells, antinuclear factor, antistreptolysin 0, and C-reactive protein were all negative. Results of an electrocardiogram and chest roentgenogram were normal. On radiographic studies of the
hands, swelling of soft tissues and mild expansion of
the medullary cavity were shown, but there were no
findings indicative of JRA (Figure 2 ) .
Because of the pains in his right thigh, a roentgenogram was taken which demonstrated a typical
Erlenmeyer flask deformity of the distal part of the
femur. The diagnosis of Gaucher’s disease was confirmed by the increased levels of serum acid phosphatase, typical Gaucher’s cells in the bone marrow, and
the partial activity (10%) of the enzyme P-glucosidase
in the leukocytes. Similar involvement of the PIP
recurred after a few months. However, both episodes
receded spontaneously after 2-3 weeks, and there
were no residual findings.
Discussion. Gaucher’s disease, type I, usually
follows a benign course with no neurologic manifestations. The most common features are splenomegaly
with hypersplenism and skeletal lesions, which may be
predominant. Accumulation of cerebroside-laden cells
in the bone marrow is responsible for the osteoarticular features. The pressure of the expanding abnormal
cell mass produces mechanical interference with nor-
Figure 1. Spindle-like swelling of the fourth right proximal interphalangeal joint and the third left proximal interphalangeal joint.
Figure 2. Hand roentgenogram discloses soft tissue swelling and
slight expansion of the medullary cavity of the affected fingers.
ma1 vascular supply to the affected bone (1). Although
our patient was unusual in this respect, bone involvement is usually not evident before late childhood and
in many cases may be the major clinical feature (1-3).
Skeletal manifestations include nonspecific bone pain,
pathologic fractures, aseptic necrosis of the femoral
head, pseudo-osteomyelitis, and acute arthritis (1,4,5).
The arthritis usually occurs in large joints and includes
chronic pain and stiffness with periodic acute exacerbations (1,3).
Diagnostic confusion often arises if an affected
patient has joint involvement (3,as our patient did.
Reported misdiagnoses include septic arthritis,
Perthe’s disease, idiopathic avascular necrosis, sicklecell anemia, leukemia, tuberculosis, and rheumatic
fever (1).
Our patient with Gaucher’s disease is remarkable for the unusual involvement of small joints, which
has not been described elsewhere. Furthermore, the
acute arthritis of the PIP, which was accompanied by
splenomegaly, resembled the symptoms of JRA. However, the bone marrow findings excluded this diagno-
sis. The pathogenesis of PIP involvement would appear to be due to infiltration of cerebroside into the
joints. We do not know, however, the reason that the
joints are involved only periodically and with no
residual findings.
When evaluating acute arthritis of small joints
accompanied by splenomegaly , especially in Ashkenazi Jews, the physician should consider a possible
diagnosis of Gaucher’s disease.
1. Goldblatt J, Sacks S, Beighton P: The orthopedic aspects
of Gaucher’s disease. Clin Orthop 137:208-214, 1978
2. Jackson DC, Simon G: Unusual bone and lung changes in
a case of Gaucher’s disease. Br J Radiol 38:698-700, 1965
3. Myers HS, Beighton P, Sacks S: Chronic Gaucher’s
disease: radiological findings in 17 South African cases.
Br J Radiol 48:465-469, 1975
4. Yossipovitch ZH, Herman G, Makin M: Aseptic osteomyelitis in Gaucher’s disease. Isr J Med Sci 1531-536,
5. Matoth Y, Fried K: Chronic Gaucher’s disease: clinical
observations on 34 patients. Isr J Med Sci 1521-530, 1965
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interphalangeal, involvement, joint, resembling, arthritis, typed, disease, juvenile, gaucher, rheumatoid
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