Infantile Hypothalamic Hamartoma: A Rare Presentation of Isolated Obesity

Area of Science:

• Pediatric Endocrinology
• Pediatric Neurology
• Neuroimaging

Background:

• Hypothalamic hamartomas (HHs) are rare congenital brain malformations.
• HHs are typically associated with epilepsy and central precocious puberty (CPP).
• Isolated infantile obesity as a primary manifestation of HH is considered atypical.

Observation:

• An 8-month-old boy presented with severe obesity (Kaup index >100th percentile) and uncontrollable hyperphagia.
• His growth pattern showed disproportionate weight gain compared to length.
• Brain MRI revealed a lesion consistent with hypothalamic hamartoma.

Findings:

• The patient exhibited no clinical signs or history of epilepsy, CPP, or Cushing disease.
• The findings suggest a direct link between the hypothalamic hamartoma and the development of severe infantile obesity.
• This case expands the known clinical spectrum of hypothalamic hamartomas.

Implications:

• Hypothalamic obesity should be considered in the differential diagnosis of unexplained infantile obesity.
• Early identification of HH in infants with severe obesity may allow for timely intervention.
• This case underscores the importance of neuroimaging in evaluating severe pediatric obesity with hyperphagia.