Hypothalamic hamartoma in an unusual case with delayed puberty

Area of Science:

• Neurology
• Pediatrics
• Radiology

Background:

• Hypothalamic hamartoma (HH) is a rare congenital brain malformation.
• It is typically associated with central precocious puberty, gelastic epilepsy, and developmental delay.

Observation:

• A 14-year-old male presented with delayed puberty, an atypical feature for hypothalamic hamartoma.
• Magnetic resonance imaging (MRI) confirmed the diagnosis of hypothalamic hamartoma.

Findings:

• This case highlights a rare presentation of hypothalamic hamartoma (HH) where delayed puberty was the primary manifestation.
• The absence of gelastic epilepsy and precocious puberty in this patient underscores the variability in HH clinical presentation.

Implications:

• This case expands the known clinical spectrum of hypothalamic hamartoma (HH).
• It emphasizes the importance of neuroimaging in diagnosing HH, especially in atypical presentations.
• Early recognition of varied symptoms is crucial for timely intervention and management of hypothalamic hamartoma.