TUBEROUS SCLEROSIS PRESENTING AS POLYCYSTIC KIDNEYS INFANCY

Abstract

Polycystic kidneys may rarely be a feature of the tuberous sclerosis complex in adults. A 3 month old female presented at the emergency room with a 2 day history of diarrhoae and vomiting. Physical examination revealed bilateral renal masses which by pyelography and ultrasonography were polycystic kidneys. The mother was noted to have adenomata sebacium on her forehead. At age 5 months the patient developed myoclonic seizures. Computerized tomography demonstrated the presence of paraventricular calcifications. Over the following 2 years other features of tuberous sclerosis have been observed. A 3 month old male presented for routine immunization and was noted to have bilateral renal masses. At age 5 months he developed myeloclonic seizure activity and computerized tomography demonstrated paraventricular calcifications. A biopsy of renal cystic lesions was typical of that described for renal cysts of tuberous sclerosis. Since that time both children have had progressive mental deterioration and have been extremely hypertensive though renal function have remained satisfactory. The cases serve to illustrate that though not a previously recognized phenomenon tuberous sclerosis can present as renal polycystic disease in infancy and indicates that care should be taken to outrule the presence of this entity when genetic advice is sought in cases of polycystic renal disease in infancy.