Diencephalic syndrome in child with NF-1 and hypothalamic tumour
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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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2018
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| Online Access: | https://eprints.nottingham.ac.uk/54750/ |
| _version_ | 1848799070842257408 |
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| author | Pilotto, Chiara Thomas, Adam Howarth, Simon P.S. Didcock, Liz Thomas, Shery Walker, David A. |
| author_facet | Pilotto, Chiara Thomas, Adam Howarth, Simon P.S. Didcock, Liz Thomas, Shery Walker, David A. |
| author_sort | Pilotto, Chiara |
| building | Nottingham Research Data Repository |
| collection | Online Access |
| description | 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. |
| first_indexed | 2025-11-14T20:29:49Z |
| format | Article |
| id | nottingham-54750 |
| institution | University of Nottingham Malaysia Campus |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-14T20:29:49Z |
| publishDate | 2018 |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | nottingham-547502018-09-13T09:44:40Z https://eprints.nottingham.ac.uk/54750/ Diencephalic syndrome in child with NF-1 and hypothalamic tumour Pilotto, Chiara Thomas, Adam Howarth, Simon P.S. Didcock, Liz Thomas, Shery Walker, David A. 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. 2018-07-30 Article PeerReviewed application/pdf en cc_by_nc https://eprints.nottingham.ac.uk/54750/1/diencephalic-syndrome-in-child-with-nf1-and-hypothalamic-tumour.pdf 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. NF-1; Diencephalic syndrome; Encephalopathy; Therapeutical approach https://www.pulsus.com/scholarly-articles/diencephalic-syndrome-in-child-with-nf1-and-hypothalamic-tumour.pdf |
| spellingShingle | NF-1; Diencephalic syndrome; Encephalopathy; Therapeutical approach Pilotto, Chiara Thomas, Adam Howarth, Simon P.S. Didcock, Liz Thomas, Shery Walker, David A. Diencephalic syndrome in child with NF-1 and hypothalamic tumour |
| title | Diencephalic syndrome in child with NF-1 and hypothalamic
tumour |
| title_full | Diencephalic syndrome in child with NF-1 and hypothalamic
tumour |
| title_fullStr | Diencephalic syndrome in child with NF-1 and hypothalamic
tumour |
| title_full_unstemmed | Diencephalic syndrome in child with NF-1 and hypothalamic
tumour |
| title_short | Diencephalic syndrome in child with NF-1 and hypothalamic
tumour |
| title_sort | diencephalic syndrome in child with nf-1 and hypothalamic
tumour |
| topic | NF-1; Diencephalic syndrome; Encephalopathy; Therapeutical approach |
| url | https://eprints.nottingham.ac.uk/54750/ https://eprints.nottingham.ac.uk/54750/ |