Pallister-Hall syndrome

Discussion:

2 year old male born at full term with multiple congenital abnormalities including imperforate anus and unilateral left hand polydactyly. In the neonatal period surgery was performed for the imperforate anus. A MRI of the brain was performed for delayed physical development and demonstrated a hamartoma of the tuber cinereum, confirming the diagnosis of Pallister-Hall syndrome.

Pallister-Hall syndrome is associated with hypothalamic hamartomas  which tend to be larger than isolated hypothalamic hematomas and can cause considerable mass effect.

Accurate diagnosis of Pallister-Hall syndrome is important for clinical management and future genetic counseling.

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