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Two half-siblings with tuberous sclerosis, polycystic kidneys and hypertension

J M Michel, J H Diggle, J Brice

    Developmental Medicine and Child Neurology
    |April 1, 1983
    PubMed

    Insights

    Tuberous sclerosis (TS) can present with polycystic kidneys in early childhood, preceding other symptoms. This rare presentation differs from typical polycystic kidney diseases and warrants consideration in pediatric diagnoses.

    Area of Science:

    • Pediatric Nephrology
    • Clinical Genetics
    • Dermatology

    Background:

    • Tuberous sclerosis (TS) is a genetic disorder affecting multiple organs.
    • Polycystic kidney disease (PKD) is characterized by numerous cysts in the kidneys.
    • Early childhood presentation of TS with renal anomalies is uncommon.

    Observation:

    • Two half-brothers with TS exhibited polycystic kidneys in early childhood.
    • Classical TS stigmata like adenoma sebaceum and infantile spasms appeared later.
    • Hypertension was present, but renal failure was absent in both cases.

    Findings:

    • Extensive renal cyst formation in TS is a rare occurrence.
    • The renal cysts in TS present differently from infantile and adult-type PKD.
    • TS should be included in the differential diagnosis for childhood renal enlargement, hematuria, and hypertension.

    Implications:

    • Highlights the diverse and sometimes atypical early manifestations of Tuberous Sclerosis.
    • Suggests a distinct renal pathology associated with TS compared to other polycystic kidney diseases.
    • Emphasizes the importance of considering TS in pediatric cases with unexplained renal abnormalities and hypertension.

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