A 4 year old girl presenting with short stature Teaching NeuroImages Neurology Resident and Fellow...
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Transcript of A 4 year old girl presenting with short stature Teaching NeuroImages Neurology Resident and Fellow...
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