Vol 44 # 2 June 2012 - Kma.org.kw

149
KUWAIT MEDICAL JOURNAL
June 2012
Case Report
Bilateral Massive Angiomyolipomatosis
Associated with Tuberous Sclerosis
Farah Jassem A Aziz Sadeq, Fowzia Ali, Thomas Jose Eluvathingal Muttikkal
Department of Radiology, Mubarak Al Kabeer Hospital, Kuwait
Kuwait Medical Journal 2012; 44 (2): 149 - 153
ABSTRACT
Angiomyolipoma is an uncommon tumor consisting
of vascular, smooth muscle, and fatty elements.
Angiomyolipoma can present in two forms; as an isolated
unilateral lesion which occurs sporadically or as bilateral
lesions associated with tuberous sclerosis and Von Hippel-
Lindau syndrome. Bilateral massive angiomyolipomatosis
is a very rare entity. Only three cases have been reported in
medical literature. We present a case of bilateral massive
angiomyolipomatosis associated with tuberous sclerosis.
KEY WORDS: angiomyolipomatosis, massive hemorrhage, tuberous sclerosis
INTRODUCTION
Tuberous sclerosis is a relatively rare disease with
an incidence of 1:100,000 [1] . Renal angiomyolipoma
is an uncommon lesion, comprising about 0.3% of
all renal masses [1] . Angiomyolipoma can present as
unilateral, solitary lesion, which occurs with a higher
female predisposition in middle age (M: F = 4:11) or as
bilateral, multiple lesions of various sizes associated
with tuberous sclerosis or Von Hippel–Lindau
syndrome [1] . About 20% of angiomyolipomas are
associated with tuberous sclerosis and about 80% of
tuberous sclerosis patients have angiomyolipomas [2,3] .
Bilateral massive angiomyolipomatosis is a
very rare entity, with only three case reports in
medical literature; all the three being associated
with tuberous sclerosis [4-6] . Angiomyolipomas can
remain asymptomatic or present with fever, nausea,
vomiting, mass, abdominal distension, abdominal
pain, flank pain, gross hematuria, renal failure,
anemia or hemorrhage [7,8] . The presentation can be
delayed due to poor communication as a result of
mental retardation, thus increasing the morbidity and
mortality. Thus a high index of suspicion is needed in
mentally retarded patients with poor communication
skills, especially for the prompt intervention of
spontaneous hemorrhage. We report this very rare
case to increase the awareness so as to reduce the
associated mortality and morbidity due to delay in
diagnosis in similar cases.
CASE REPORT
A 33-year-old mentally retarded male patient
was brought to the emergency department with one
day history of severe abdominal pain and vomiting.
Clinical examination revealed a pale patient with
tachycardia and severe hypotension (60/50 mmHg).
Resuscitative measures were initiated. A large mass
was felt occupying most of his abdomen, along with
fullness in both flanks. The patient was known to
have tuberous sclerosis with mental retardation and
epilepsy. Hematological investigations revealed
anemia (Hb 97 g/l) and renal impairment (serum
creatinine 219 μmol/l). There was further rapid drop
in Hb to 67g/l and worsening of renal impairment
with serum creatinine rising to 314 μmol/l. An urgent
non-enhanced CT-scan of the abdomen and pelvis
was done which showed bilateral huge heterogeneous
masses with fat and soft tissue attenuation in the
retroperitoneum occupying the renal areas and
replacing the normal renal parenchyma (Fig. 1a, 1b).
There was high attenuation suggestive of hemorrhage,
fluid level and extensive fat-stranding in the right side
mass (Fig. 1a). Prominent linear structures suggestive
of extensive abnormal vasculature were seen (Fig. 1b,
1c). The masses displaced the bowel anteriorly (Fig. 2).
The mass on the right side measured 24.3 cm x 20.9 cm
x 16.6 cm (Fig. 3a, 3b) and on the left measured 32.6
cm x 19.6 cm x 13.8 cm (Fig. 3c, 3d). The findings were
diagnostic of bilateral massive angiomyolipomas with
Address correspondence to:
Farah Jassem A.Aziz Sadeq, FFR-RCSI, Department of Radiology, Mubarak Al-Kabeer Hospital, PO Box 43787, Hawally-32052, Kuwait.
Tel: +96566777411, Fax: + 96525618866, E-mail: 67farah@live.com