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Case No. 470
2018-02-01~2018-02-28
출제자 : 배윤정
Hit : 241
| Period | 2018-02-01~2018-02-28 |
|---|---|
| Diagnosis | Vanishing white matter disease |
| Clinical information | F/29M Symptom: -Motor developmental delay started when she was 15 months old, when she experienced severe fever higher than 38°C -->Rapid motor regression with spasticity of lower extremities Motor deterioration got worsened until she could not respond to any external stimuli -Seizure History: No prenatal, delivery, and neonatal events N/Ex: Increased muscle tone and spasticity and exaggerated deep tendon reflex MRS와 이후 FLAIR, T2WI는 followup 사진임. |
| Discussion | Initial MRI: -Extensive abnormal signal intensity at generalized demyelination of the white matters including periventricular and deep cerebral white matter relatively sparing subcortical U-fibers internal and external capsule, corpus callosum 8-Months follow-up MRI: -Progression of rarefaction or cystic degeneration of affected white matter showing CSF signal intensity and a radiating stripe-like pattern suggesting remaining tissue strands MRS: -all normal white-matter signals disappeared and were replaced by resonances representing lactate Gene study: -EIF2B3 gene mutation confirmed Vanishing white matter disease =Leukoencephalopathy with vanishing white matter disease =Childhood ataxia with central hypomyelination (CACH) and mylinopathia centralis diffusa -An autosomal recessive disorder with various severity from mild adult-onset to most severe congenital type -Clinical presentation: Stress-provoked episodic neurological deterioration after febrile infections, head trauma, and acute fright -Pathologic evidence: Progressive white matteraxon demyelination from myelin rarefaction and cystic degeneration, which is eventually totally replaced by fluid -Imaging finding: Symmetric and diffuse abnormal signal intensity of white matter on MRI, later disappearance of the cerebral white matter -Genetics: Mutations in any of the five housekeeping genes (eIF2B1-5), encoding the 5 subunits of eukaryotic translation initiation factor 2B (eEIF2Bα-εa–e) |
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