A 4 year old girl presenting with short stature

Teaching NeuroImagesNeurology

Resident and Fellow Section

© 2014 American Academy of Neurology

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

Imaging

Dumitrascu et al.© 2014 American Academy of Neurology

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