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-Halll syndrome is important for clinical management and future genetic counseling.