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… (More)
DOI: 10.1212/WNL.0000000000001469


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