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Radiologic-Pathologic

Tuberous

Sclerosis

Beverly

Ellin

P. Wood,1

Lieberman,2

Conferences

Benjarnin

Landing,3

of Childrens

and

Barry

Hospital

Los Angeles

Marcus4

A 6-month-old kidneys detected

girl was examined for bilaterally enlarged by palpation. Her development was delayed,

giomyolipomata by sonographic evidence of thin-walled, anechoic areas with posterior enhancement [4]. The diagnosis is

and the parents

reported

established

sodes

of stiffening,

recent

stretching

her head. The infant’s

weight

seizures

her arms,

was

consisting

of epi-

and throwing

back

in the i 0th percentile,

length was in the 50th percentile, and her head circumference was in the i 0th percentile. The patient could not sit and had poor head control. The liver and kidneys were enlarged on palpation. The blood pressure was i 40/90 and serum creatinine level was 0.i mg/dI. Renal sonography showed bilaterally enlarged kidneys with cortical replacement by multiple cysts varying from 5 mm to 3 cm in diameter (Figs. i A and i B). An echocardiogram (Fig. i C) showed multiple hyperechoic nod-

ules in the myocardium

of both ventricles.

A diagnosis

of

tuberous sclerosis with renal parenchymal cysts and cardiac hamartomas was made and confirmed by biopsy. Therapy was started with 35 mg/kg/day of captopril; this controlled her hypertension. Tuberous sclerosis is a heritable, autosomal dominant neurocutaneous syndrome with clinical manifestations of adenoma sebaceum, seizures, and mental retardation. Patients have hamartomas or angiofibromas involving multiple organ systems, including the skin, CNS, eye, lung, heart, and kidneys. Renal cysts are a less common manifestation of tuber-

ous sclerosis polycystic inheritance

and may have the sonographic

renal disease [1, 2]. Renal

angiomyolipomas tubrous

sclerosis

appearance

of

(adult type) of autosomal dominant cysts may coexist with parenchymal

or may be the sole renal manifestation [3, 4]. Cysts

are differentiated

from

of an-

by biopsy.

Histologically,

the lining of these cysts

is characterized by hyperplastic clumps of eosinophilic epithehum projecting into the cyst lumen [i]. This appearance is distinctive of tuberous sclerosis and establishes the diagnosis. Cystic disease is thought to result from tubular epithelial hyperplasia with eventual hypertension and renal insufficiency. The hyperplasia may predispose to renal carcinoma [5]. The eventual diminution in renal function reflects progres-

sive parenchymal compression by large cysts. Hypertension has been shown to be ameliorated by decompression of the renal

cysts.

The

development

appearance

of renal

of other signs of tuberous

important to consider and establish tiple renal cysts are identified in an of these patients for other signs warranted and future monitoring is

cysts

may

sclerosis;

precede

thus, it is

this diagnosis when mulinfant [2]. Further workup of tuberous sclerosis is essential.

REFERENCES 1 . Bernstein J, Robbins TO. Renal involvement Acad Sci 1991:615:36-49

in tuberous

sclerosis.

Ann NY

2. Stapleton FB, Johnson D, Kaplan GW, Griswold W. The cystic renal lesion in tuberous sclerosis. J Pediatr 1980:97 :574-579 3. Stillwell TJ, Gomez MA, Kelalis PP. Renal lesions in tuberous sclerosis. J Urol 1987:138:477-481 4. Narla LD, Slovis TL, Watts FB, Nigro M. The renal lesions of tuberosclerosis (cysts and angiomyolipoma)-screening with sonography and computerized tomography. Pediatr Radio! 1988:18:205-209 5. Bemstein J, Robbins TO, Kissane JM. The renal lesions of tuberous sclerosis. Semin Diagn Pathol 1986:3:97-105

‘-4.,

Fig. 1.-Tuberous sclerosis. Longitudinal sonogram of right kidney shows multiple

A, B, C, 0, 1

Department

of Radiology,

2

Department

of Nephrology,

3

Department

of Pathology,

MS 81 , Childrens Childrens ChiIdrens

Hospital Hospital

Department of Cardiology, Childrens Hospital AJR 158:750, April 1992 0361-803X/92/1584-0750 4

cysts replacing

renal cortex.

Transverse senogram of right kidney shows nephromegaly and cortical cysts. Echocardiogram shows hyperechoic nodule (arrow) extending Into ventricle. Photomlcrograph of renal biopsy specimen shows hyperplastic lining of cyst wall with clumps Hospital

4650 Sunset Blvd., Los Angeles, Los Angeles, CA 90027. Los Angeles, CA 90027.

Los Angeles,

Los Angeles, Los Angeles,

Los Angeles, Los Angeles, CA 90027. C American Roentgen Ray Society

of epithelium CA 90027.

extending

Address

reprint

into cyst (arrow). requests

to B. P. Wood.