Tuberous sclerosis is a disease with a well known association with renal masses, both cysts and angiomyolipomas. Reported here is a case of a 26 year old woman who had, in addition to angiomyolipomas of the kidneys, adenoma sebaceum, paraungualfibromas, shagreen patches and cerebral tubers

M. Segasothy

Sidlq Mohamed

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Med. J. Malaysia Vol. 38 No. 2 June 1983
TUBEROUS SCLEROSIS AND
ANGIOMYOLIPOMAS OF THE KIDNEYS : A
CASE REPORT
M. SEGASOTHY
AYE AYE Yl
SIDlQMOHAMED
SUMMARY
Tuberous sclerosis is a disease with a well known
association with renal masses, both cysts and
angiomyolipomas. Reported here is a case ofa 26
year old woman who had, in addition to
angiomyolipomas of the kidneys, adenoma
sebaceum, paraungualfibromas, shagreen patches
and cerebral tubers.
INTRODUCTION
Tuberous sclerosis is a hereditary disease showing
a widespread disturbance of organogenesis
affectingmany partsofthe body. In the most severe
form, patients show the classical triad of mental
retardation, epilepsy and adenoma sebaceumofthe
face. Many patients however exhibit incomplete
forms of the disease ("formes frustes") in which
many of the characteristic abnormalities are
absent.
Renal angiomyolipomas may occur in 50 to 80
percent I of patients. They are composed of three
main tissues: (1) abnormal thick-walled blood
vessels with a tendency to haemorrhage, (2) smooth
muscle, and (3) fat. 21t is generally believed that all
M. Segasothy. M.R.e.p. (UK).
Department of Medicine.
Universiti Kebangsaan Malaysia.
Aye Aye Yi, M.B.B.S. (Rgn.), D.M.R.D. (Lond.),
Department of Radiology.
Faculty of Medicine.
Universiti Kebangsaan Malaysia.
Sidiq Mohamed, M.R.e.p. (UK),DTm & H (Lond.)
Dip. Yen. (Lond.), Department of Medicine,
Universiti Kebangsaan Malaysia.
94
three tissue components arise from embryonal cells
in the kidney.
Renal cysts have also been recognized as an
unusual manifestation of tuberous sclerosis in
children. Renal carcinoma associated with
tuberous sclerosis is extremely rare, and the mode
ofbehaviour of these tumours maybe unusual. S
CASE REPORT
A 26 year old female presented with colicky
abdominal pain associated with vomiting, dysurea
and frank haematuria of 4 days duration. There
was no past history of renal disease, haematuria or
tuberculosis. Since the age of one month, she had
generalised epileptic convulsions andwas also noted
to be mentally retarded. Her fits ceased at the age
ofl2.
On examination, she was found to be mentally
retarded and had adenoma sebaceum in a malar
distribution, shagreen patches in the sacral and
lumbar region, and paraungual fibromas.
Fundoscopic examination was normal. She had
bilaterally enlarged kidneys, the right being larger
than theleft. .
Laboratory data included: Haemoglobin 7.2
g/dl, the blood film and serum iron studies
indicating an iron deficiency anaemia, serum
creatinine HO umol/1, urea 2.8 mmol/l and
normal serum electrolytes.
Chest x-ray was normal. Skull x-ray showed
discrete multiple irregular areas of calcification
with areas of sclerosis in the vault and frontal
bones. X-ray of feet showed irregular periosteal
new bone formation along the shafts of the right
second and third metatarsals and the second left
metatarsal. X-ray of hands showed areas of sclerosisFig. I Bilateral large kidneys with calyceal displacement
and distortionby relatively radiolucent renalmasses.
ofthe shaft ofthe left second metacarpal, the right
second and third metacarpals and the proximal
phalanges of the right index, middle and little
fingers.
Intravenous urogram demonstrated bilaterally
enlarged kidneys with relatively radiolucent areas
stretching the calyces (Fig. 1). The collecting
systems on both sides appeared relatively dilated
butno obstructionwas seen.
Free flush aortogram with bilateral selective
renal angiogram demonstrated numerous highly
vascular areas involving the lower two-thirds of the
right kidney and the entire left kidney (Fig. 2).
Nephrographic phase showed relatively translucent
areas within the vascular area (Fig. 3, 4). The
appearances are consistent with angiomyolipoma-
tosis ofboth kidneys.
DISCUSSION
Features of tuberous sclerosis include the
following:- (1) Cutaneous lesion (a) "Adenoma
sebaceum", which are actually angiofibromas, in a
butterfly distribution on the cheeks and nose. (b)
"Shagreen patches", which are connective tissue
naevi and clinically exhibit a "cobblestone" or
"pigskin" appearance, most commonly occurring
lumbosacrally. (c) Congenitally hypopigmented
"ash leaf' macules mainly located on the trunk,
visualization being enhanced by Wood's light. (d)
95
Fig. 2 Extensivevascularityof the entirerightkidneyexcept
for a small normal portion in the upper pole. The left kidney
shows numerous generalised vascular tumour vessels "Cock-
Screw Vessels". No A-V shuntingshown.
Cafe 'au lait' spots. (e) Periungual or subungual
fibromas. (2) Cerebral involvement: sclerotic glial
nodules, or tubers, develop in the basal ganglia and
periventricular regions resulting in mental
retardation and epilepsy. Skull x-rays may
demonstrate .circumscribed intra-cranial
calcifications and electroencephalographic findings
are abnormal in about 70 percent of cases. 4
Carotid angiography shows berry-like aneurysms in
the tubers during the late arterial phase. 5
Pneumoencephalography shows characteristic
"candle gutterings" in the lateral ventricles.
Computerized tomography, which demonstrates
the hamartomas well and is non-invasive and
without risk, is likely to become the diagnostic
method of choice to demonstrate central nervous
system lesions. 6 (3) Retinal gliomas: are of two
types, a peripheral lesion that is flat, white and
circular and a nodular, mulberry-like lesion that
occurs near the optic head. (4) Multiple visceral
tumours: these are usually hamartomatous
malformations, and may be found in the kidneys,
heart, liver, adrenals, thyroid, lungs and ovaries.
(5) Pulmonary involvement: multiple cystic lesions
giving a honey-combed appearance, or
intrapulmonary hamartomata.7 (6) Skeletal lesions:Fig. 3, 4 Densenephrogramsintermixedwith radiolucencies representingthe fatty componentsof the angiolipomatosis.
sclerotic islands may be seen in the skull and pelvic
bones, or cystic lesions in the phalanges. 8 (7)
Stigmata common among mentally defective
patients: the simian hand, hypertrophy or
asymmentry of the ears, high arched palate,
supernumeary digits, or shortening and incurving
of the little finger. (8) Endocrine and metabolic
abnormalities are varied and nonspecific and
include goiter, hypothyroidism, Cushing's
syndrome, low pituitary-adrenal reserve, abnormal
glucose tolerance, precocious puberty, and adrenal
hyperplasia. 9 (9) A family history. (10) Increased
IgM anddecreased IgGlevels. 10
The most common renal involvement is angio-
myolipomas and these can mimic polycystic disease
on intravenous urography. Malignant
transformation ofangiomyolipomas as well as renal
carcinoma have beenreportedintuberous sclerosis.
Differentiation between angiomyolipomas and
renal carcinomascanbe difficult as theysharesome
common angiographic findings. However, findings
which are reported to be more characteristic for an
angiomyolipoma include: (1) saccular aneurysmal
dilatation of interlobar and interlobular arteries
that look like a "cluster of grapes", 11 (2)
circumferential peripheral tumour vessels. 12 (3)
96
"whorled onion peel" appearance in the
nephrographic phase presumably related to the
myomatous tissue present, is (4) sharp dilineation
between the tumour and the normal kidney in the
nephrographic phase, (5) thin radiolucent cleavage
line around parts of the tumour peripherally, 2 and
(6) lack of arteriovenous shunt and early venous
filling. 12
However it must be realized that these findings
are not diagnostic for angiomyolipomas since they
can occasionally be found in renal cell carcinoma
andotherlesions. 12
Recently ultrasonic findings in patients with
angiomyolipomas revealed renal masses that were
very echogenic. 15 The exact cause of the marked
echogenicity of the angiomyolipomas is unknown
but may be due to the fat within the tumour.
Computed tomography may also demonstrate fat
within the tumour. These two imaging methods
may be helpful in differentiating renal cell
carcinomafrom angiomyolipomas.
As renal tumours intuberous sclerosis are in most
cases hamartomata, treatment should be
conservative and durgical intervention reserved for
cases with uncontrollable haematuria, infection,
pain, or where the symptoms produced are due tothe size of the tumour. Percutaneous needle biopsy
is not recommended because ofthe vascular nature
ofmanyofthese tumours.
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