Diencephalic syndrome in child with NF-1 and hypothalamic tumour

Pilotto, Chiara, Thomas, Adam, Howarth, Simon P.S., Didcock, Liz, Thomas, Shery and Walker, David A. (2018) Diencephalic syndrome in child with NF-1 and hypothalamic tumour. Journal of Neurology and Clinical Neuroscience, 2 (2). pp. 10-12.

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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.

Item Type: Article
Keywords: NF-1; Diencephalic syndrome; Encephalopathy; Therapeutical approach
Schools/Departments: University of Nottingham, UK > Faculty of Medicine and Health Sciences > School of Medicine > Division of Child Health, Obstetrics and Gynaecology
Depositing User: Lashkova, Mrs Olga
Date Deposited: 13 Sep 2018 09:44
Last Modified: 13 Sep 2018 09:44
URI: https://eprints.nottingham.ac.uk/id/eprint/54750

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