1. A 4 year old girl presenting with short stature Teaching NeuroImages Neurology Resident and Fellow Section © 2014 American Academy of Neurology

2. Clinical Vignette A 4 year old girl presents to the Endocrinology Department for short stature. Parents report history of surgeries for polydactyly and imperforate anus. Family history is negative for any disorders. Patient is asymptomatic and has a normal neurological examination. Brain MRI is ordered before further therapy. Dumitrascu et al. © 2014 American Academy of Neurology

3. Imaging Dumitrascu et al. © 2014 American Academy of Neurology

4. Short stature, imperforate anus and polydactyly: when is a hypothalamic mass an incidentaloma? Neurologists and neuroloradiologists should recognize Pallister-Hall syndrome (PHS) constellation of clinical and radiological findings. Etiology: autosomal dominant or de novo mutation of the GLI3 gene. Compared to the sporadic hypothalamic hamartoma, PHS tumor tends to be less symptomatic and with minimal growth. Biopsy was not indicated given stable and typical imaging appearance, consistent with a hamartoma. Surgical resection was not recommended, based on the PHS natural history and to avoid complications, like visual and endocrine abnormalities. Recommendation is for surveillance annual clinical evaluations and brain MRIs, hormone replacement therapy and medical genetics consultation. Dumitrascu et al. © 2014 American Academy of Neurology