Diencephalic syndrome in child with NF-1 and hypothalamic tumour
Pilotto, Chiara; Thomas, Adam; Simon P.S., Howarth; Didcock, Liz; Thomas, Shery; Walker, David A.
Howarth Simon P.S.
David A. Walker
We describe a 20 month 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.
Pilotto, C., Thomas, A., Simon P.S., H., Didcock, L., Thomas, S., & Walker, D. A. (2018). Diencephalic syndrome in child with NF-1 and hypothalamic tumour. Journal of Neurology and Clinical Neuroscience, 2(3), 1-3
|Journal Article Type||Article|
|Acceptance Date||Jul 24, 2018|
|Online Publication Date||Jul 30, 2018|
|Publication Date||Oct 1, 2018|
|Deposit Date||Aug 16, 2018|
|Publicly Available Date||Aug 16, 2018|
|Journal||Journal of Neurology and Clinical Neuroscience|
|Peer Reviewed||Peer Reviewed|
|Keywords||NF-1; Diencephalic syndrome; Encephalopathy; Therapeutical approach|
Publisher Licence URL