Hypertension, Nephrology, Dialysis and Transplantation Clinic, Medical Arts Centre, Opelika, Alabama, USA
Correspondence and offprint requests to: Dr Charles Diskin, Hypertension, Nephrology, Dialysis and Transplantation Clinic, Bldg. #21 Medical Arts Center, 121 N. 20th Street, Opelika, Alabama 36801, USA.
A 19-year-old mentally retarded man presented with congestive heart failure, renal failure (serum creatinine 12.8 mg/dl), anaemia (haematocrit 25%), and severe hypertension. His mother initially denied any prior medical history. A CT scan demonstrated (Figure 1A) very massive kidneys (19-cm in length, large arrows) with huge (45 cm, small arrows) cysts, that were considered diagnostic of autosomal dominant polycystic kidney disease (PCKD). However, the age of renal failure was inconsistent with autosomal dominant PCKD and there was no family history of renal insufficiency. Although he might have had autosomal recessive disease, further examination revealed a skin lesion consistent with adenoma sebaceum (Figure 1B
). His mother subsequently revealed a history of seizure at age 5 that she had forgotten. A CT scan of the brain showed multiple subependymal tubers (Figure 1C
) which confirmed the diagnosis of tuberous sclerosis.
|
References