An unusual neuroimaging finding and response to immunotherapy in a child with genetically confirmed vanishing white matter disease.
BACKGROUND
We present an unusual neuroimaging finding in a young girl with genetically confirmed vanishing white matter disease and a possible response to immunotherapy.


RESULTS
2.5 yr old girl, presented with acute onset unsteadiness and encephalopathy following a viral illness. MRI showed global symmetric white matter abnormality, with symmetric enhancement of cranial nerves (III and V) and of cervical and lumbar roots. She received immunotherapy for her encephalopathic illness with white matter changes. Follow up neuroimaging showed resolution of white matter edema and resolution of the change in the brainstem. Genetic testing confirmed a diagnosis of vanishing white matter disease (VWMD).


CONCLUSIONS
Craniospinal nerve enhancement and possible response to immunotherapy has not been described in vanishing white matter disease.
Department of Children's Neurosciences, Guys and St. Thomas' Hospital NHS Foundation Trust, Kings Health Partners, London, UK. Electronic address: Singhrahulraman@gmail.com.
Rahul Raman
RR
Singh
Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK. Electronic address: Jh.livingston@nhs.net.
John
J
Livingston
Department of Children's Neurosciences, Guys and St. Thomas' Hospital NHS Foundation Trust, Kings Health Partners, London, UK. Electronic address: Ming.lim@gstt.nhs.uk.
Ming
M
Lim
Leeds Genetics Laboratory, St. James's University Hospital, Leeds, UK. Electronic address: Ianberry@nhs.net.
Ian R
IR
Berry
Department of Neuroradiology, Guys and St. Thomas' Hospital NHS Foundation Trust, Kings Health Partners, London, UK. Electronic address: Ata.siddiqui@gstt.nhs.uk.
Ata
A
Siddiqui
D000305:Adrenal Cortex Hormones / Q000627:therapeutic use*; D001927:Brain Diseases / Q000188:drug therapy* / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D001933:Brain Stem / Q000187:drug effects; D002675:Child, Preschool; D004487:Edema / Q000150:complications / Q000473:pathology; D005260:Female; D005820:Genetic Testing; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000276:immunology* / Q000627:therapeutic use*; D008279:Magnetic Resonance Imaging; D059906:Neuroimaging; D066127:White Matter / Q000187:drug effects / Q000473:pathology*
D000305:Adrenal Cortex Hormones; D016756:Immunoglobulins, Intravenous
Cranial nerve enhancement; EIF mutation; Immunotherapy; Leukodystrophy; Vanishing white matter disease