A case of central precocious puberty due to concomitant hypothalamic hamartoma and juvenile pilocytic astrocytoma

Area of Science:

• Pediatric Endocrinology
• Pediatric Neurosurgery
• Neuro-oncology

Background:

• Central precocious puberty (CPP) results from premature activation of the hypothalamo-pituitary-gonadal axis.
• Common causes of secondary CPP include brain abnormalities like hypothalamic hamartoma (HH), tumors, and congenital defects.
• Hypothalamic hamartomas are typically non-enhancing lesions on imaging.

Observation:

• A 2-year-old male presented with a contrast-enhancing suprasellar mass initially diagnosed as a giant hypothalamic hamartoma (HH).
• Despite initial stability, the mass rapidly grew, causing neurological deficits three years post-surgery.
• Subsequent histopathological examination revealed a juvenile pilocytic astrocytoma (PA), not an HH.

Findings:

• This case presents the rare concomitance of a hypothalamic hamartoma (HH) and a juvenile pilocytic astrocytoma (PA).
• The patient developed central precocious puberty (CPP) associated with the suprasellar mass.
• Notably, the patient did not exhibit gelastic epilepsy, a symptom sometimes associated with hypothalamic hamartomas.

Implications:

• This case underscores the necessity of thorough histopathological evaluation and follow-up for suprasellar masses, especially when imaging characteristics are atypical for the initial diagnosis.
• The co-occurrence of HH and PA highlights diagnostic challenges and the potential for misdiagnosis.
• Understanding rare tumor associations is crucial for accurate diagnosis and management of pediatric endocrine and neurological disorders.