Symptomatic, radiological and pathological involvement of the hypothalamus in neuromyelitis optica.
This study describes a young girl who presented with involuntary weight loss, spontaneous vomiting and behavioural change. Imaging confirmed hypothalamic and brainstem involvement. Routine investigations (including cerebrospinal fluid analysis and neuromyelitis optica IgG) were unhelpful. Biopsy of the hypothalamic lesion implicated an aggressive inflammatory aetiology. There was a response to conventional immunosuppression, while a further relapse responded to plasma exchange. She died 21 months after presentation. Postmortem examination was highly suggestive of neuromyelitis optica, which was subsequently confirmed following the identification of aquaporin 4 antibodies.
Viegas
S
S
Department of Clinical Neurology, John Radcliffe Hospital, Oxford, UK.
Weir
A
A
Esiri
M
M
Kuker
W
W
Waters
P
P
Leite
M I
MI
Vincent
A
A
Palace
J
J
D000293:Adolescent; D051401:Aquaporin 4 / Q000276:immunology; D001323:Autoantibodies / Q000032:analysis; D001706:Biopsy; D001933:Brain Stem / Q000473:pathology; D003937:Diagnosis, Differential; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007027:Hypothalamic Diseases / Q000175:diagnosis* / Q000276:immunology / Q000473:pathology; D007031:Hypothalamus / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D009336:Necrosis; D009460:Neurologic Examination; D009471:Neuromyelitis Optica / Q000175:diagnosis* / Q000276:immunology / Q000473:pathology; D009900:Optic Nerve / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology; D020542:Third Ventricle / Q000473:pathology
C496030:AQP4 protein, human; D051401:Aquaporin 4; D001323:Autoantibodies