Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406 EISSN: 2008-2150
Vol. 20, Num. 3, 2010, pp. 367-369
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Iranian Journal of Pediatrics, Vol. 20, No. 3, July-September, 2010,
pp. 367-369
A Rare Presentation of Familial Mediterranean fever; Acute
Scrotum and Hydrocele Amyloidosis
Resul
Yilmaz, MD, and Samet
Ozer, MD
Department
of Pediatrics, School of Medicine, Gaziosmanpasa University Tokat, Turkey
Received: Oct
14, 2009; Final Revision: Feb 11, 2010; Accepted: Mar
30, 2010
Code Number: pe10056
Abstract
Background:Familial
Mediterranean Fever (FMF) is a genetic disease characterized by recurrent
febrile attacks and inflammation of serous membranes. Amyloidosis is
frequent in untreated FMF patients and is also the most important complication
of FMF. It is generally seen with renal, hepatic, gastrointestinal, spleen,
testicular and thyroidal involvement. Case
Presentation: Herein,
we report a case with acute scrotum and hydrocele amyloidosis as
a presenting finding in a child with FMF. Conclusion:Although
the acute scrotum and scrotal swelling are not characteristic clinical
features of FMF, this genetic disease should not be forgotten in the
differential diagnosis of acute scrotum in patients of Mediterranean
origins.
Familial
Mediterranean Fever (FMF) is an autosomal recessive inherited disorder
characterized by recurrent episodes and self limited attacks of fever,
peritonitis, pleuritis, arthritis and erysipelas-like erythema[1] .
The most important complication of FMF is amyloidosis and is characterized
by the generalized or localized extracellular deposition of
amyloid, a proteinaceous fibrillar material, in different tissues and organs.
Also, amyloidosis determines the prognosis[2]. Orchitis and
testicular amyloidosis are rarely reported due to FMF but can also occur
with testicular amyloidosis typically being asymptomatic[3]. Here
we present a case with acute scrotum and hydrocele amyloidosis as a presenting
sign of FMF.
Case
Presentation
A
previously healthy 14-year-old Turkish boy was admitted to the emergency
room with swollen, painful and erythematous scrotum. At admission, he had
no fever or abdominal pain.
On
physical examination, translumination was positive on the scrotum. Hepatosplenomegaly
was palpated. Laboratory examinations were as follow: white blood cell
19200/mm³, erythrocyte sedimentation rate 48 mm/h (normal range: 0-15)
and C-reactive protein 43 mg/L (normal range: 0-5). Serum amyloid A level
was 315 ng/ml (normal range: <10 ng/ml).
Scrotal
and abdominal ultrasonographs showed epididymal enlargement, thickened
scrotal skin, bilateral hydrocele and splenomegaly. His medical history
was unremarkable for FMF. Before this attack, he had two abdominal pain
attacks without fever. The abdominal pain was diagnosed as a urinary tract
infection and was treated with antibiotics. He was operated to repair hydrocele.
The histopathological examination of the removed hydrocele sac revealed
amyloid deposition in the vessel walls. We
diagnosed FMF according to Tel Hashomer criteria[4]. Genetic
mutation analysis showed homozygous M694V alleles on MEFV gene. Colchicine
was given for prevention and treatment of amyloidosis. Pain and swelling
of scrotum resolved on day five after admission. We have been following
him for two and half years. Serum amyloid A level and urine analysis were
normal. He had no attacks since starting the colchicine treatment.
Discussion
FMF
can be seen at every part of the body, is characterized by fever, arthritis,
abdominal and chest pain. Patients' clinical features are peritonitis (93.7%),
fever (92.5%), arthritis (47.4%), pleuritis (31.2%), myalgia (39.6%) and
erysipelas-like erythema (20.9%)[5] .
The symptoms of FMF are related to the inflammation of serosal membranes[1] .
An extension of peritoneal sac, tunica vaginalis, could be affected by
FMF at the same time. It is concluded that acute scrotum is one type of
FMF attacks. There are few studies reporting scrotal swelling frequency
in 4-8% of FMF patients[6,7,8].
Only
one case reported acute scrotum in a Turkish child with FMF[9] .
Many other articles on FMF from Turkey did not mention acute scrotum or
scrotal swelling[5] .
Scrotal swelling could be a presenting sign of FMF[6] .
Scrotal attack is considered to be unilateral and self limited within 24
to72 hours. A complete recovery is expected without significant consequence[6,9] .
A
recent study from Turkey indicated that FMF is the most common cause of
amyloidosis in Turkish patients[2] and
the highest frequency of FMF (1/123) is reported from Tokat region in Turkey[10] .
Abdominal pain can be very dull and yet is sometimes very serious and seems
to be an acute abdomen. It is easily misdiagnosed as appendicitis which
leads to an unnecessary appendectomy[11]. Patients with typical
phenotype and genetically confirmed mutations of FMF are defined as phenotype
I, but phenotype II patients develop amyloidosis without any previous attacks
typical of FMF[12].
In
childhood, fever or abdominal pain could be attributed to infectious disease
rather than FMF so diagnosis of FMF can be postponed to older ages. Although
our patient’s first two abdominal pain attacks were not clear and
characteristic, it can still be attributed to FMF. These reports and findings
were recognized as a clue for investigating FMF in this patient. Other
differential diagnosis of acute scrotum and scrotal swelling were ruled
out by physical examination, laboratory and radiological test findings.
Although
acute scrotum has been recognized as a feature of FMF in Jewish and Arab
FMF patients, it can also be a clinical feature in Turkish FMF patients.
Early diagnosis and colchicine prophylaxis are essential to prevent amyloidosis,
which is the most significant, unique and lethal complication of FMF. Around
the age of 40, amyloidosis is seen in 90% of FMF patients who are not treated.
These patients undergo unnecessary interventions and recurrences, which
lead to risk of ischemic testicular necrosis[6,13,14].
Conclusion
Although
the acute scrotum and scrotal swelling are not characteristic clinical
features of FMF, this genetic disease should not be forgotten in the differential
diagnosis of acute scrotum in patients of Mediterranean origin.
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