Presentation
Multiple congenital abnormalities and delayed physical development.
Patient Data
Large non-enhancing mass centered at the hypothalamus (tuber cinereum), which is isointense to grey matter on all sequences. The mass projects into the suprasellar, pontine, and ambient cisterns causing mass effect, elevating the floor of the third ventricle and displacing the optic chiasm, pituitary infundibulum, pons, and midbrain.
Frontal left hand radiograph demonstrating unilateral polysyndactyly (Post-axial polydactyly).
Frontal abdominal radiograph shows post surgical clips for correction of imperforated anus. There is diffuse dilated loops of bowel.
Case 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.