Teaching neuroImages: short stature, imperforate anus, and polydactyly: When is a hypothalamic mass an incidentaloma?

A 4-year-old girl with history of polydactyly and imperforate anus surgeries presented with short stature. Brain MRI revealed a large hypothalamic hamartoma (figure). Pallister-Hall syndrome (PHS) was diagnosed. Biopsy was not indicated given stable and typical tumoral appearance. Annual evaluations, hormonal replacement, and medical genetics consult were recommended. Compared to sporadic hypothalamic hamartoma, patients with PHS tend to be less symptomatic and have minimal tumor growth. The etiology is an autosomal dominant or de novo GLI3 gene mutation. Neurologists and neuroradiologists should be familiar with PHS characteristics, surveillance, and symptomatic therapy as neurosurgery is not usually recommended.