44 2033180199
All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.
Journal of Neurology and Clinical Neuroscience

Sign up for email alert when new content gets added: Sign up

Diencephalic syndrome in child with NF-1 and hypothalamic tumour

Author(s): Pilotto Chiara*, Thomas Adam, Howarth Simon PS, Didcock Liz, Thomas Shery and Walker David A

We describe a 20 months old boy with neuro-fibromatosis type 1 (NF-1) who presented with diencephalic syndrome due to a large hypothalamic tumour and developed massive necrosis after chemotherapy associated with severe encephalopathy.


We report this case because of rapid progression of presenting symptoms, the rare association with diencephalic syndrome in NF-1, chemotherapy induction of “tumour lysis” associated with encephalopathy, reduced toxicity and sustained improvement with vinblastine, the therapeutic benefit of tumour drainage signs of resolution of diencephalic syndrome and then restoration of visual movements and function associated with developmental recovery. The presentation of tumour in this case highlights the importance for parents and doctor to known and recognize the precocious symptoms, and justifies sharing these features as an indicator with parents and GP’s to justify early / urgent specialist review, particularly in the first two years of life. Early recognition could offer a reduced risk of brain injury.

Full-Text | PDF
Google Scholar citation report
Citations : 38

Journal of Neurology and Clinical Neuroscience received 38 citations as per Google Scholar report

Journal of Neurology and Clinical Neuroscience peer review process verified at publons