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[Precocious puberty revealing Bourneville tuberous sclerosis]
M de Cornulier1, A David, J Y Cohen
1Service de Pédiatrie, Hôpital Mère-Enfant, Nantes.
Archives Francaises De Pediatrie
|May 1, 1993
Summary
Tuberous sclerosis can exceptionally present with precocious puberty in infants. This case highlights a rare association with polycystic kidney disease, emphasizing the need for comprehensive evaluation.
Area of Science:
- Pediatric Endocrinology
- Neurology
- Genetics
Background:
- Tuberous sclerosis is a genetic disorder characterized by benign tumors in multiple organs.
- Precocious puberty, often linked to hypothalamic hamartomas, is a rare presenting symptom of tuberous sclerosis.
Observation:
- A 2-month-old infant with polycystic renal disease developed precocious puberty at 13 months.
- Clinical signs included accelerated growth, advanced bone maturation, and hormonal changes indicative of gonadotropin-dependent precocious puberty.
- Brain imaging revealed a hypothalamic hamartoma and periventricular calcifications, consistent with tuberous sclerosis.
Findings:
- The patient exhibited elevated testosterone levels and a significant response to gonadotropin-releasing hormone (GnRH) stimulation.
- Treatment with a GnRH analogue effectively managed the precocious puberty symptoms.
- This case represents the first reported instance of tuberous sclerosis associated with both polycystic kidney disease and precocious puberty.
Implications:
- Precocious puberty, though rare, should be considered in the diagnostic workup of infants with tuberous sclerosis.
- The co-occurrence of polycystic kidney disease and precocious puberty in tuberous sclerosis expands the known clinical spectrum of the disorder.
- Early diagnosis and management of precocious puberty are crucial for optimal long-term outcomes in affected children.