From: EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report
AUTHOR /YEAR | ONSET AGE | TRIGGER | SYMPTOMS | SEIZURES | MRI | MUTATION | OUTCOMES |
---|---|---|---|---|---|---|---|
FRANCALANCI ET AL (2001) [18] | 11-mo (oldest sister) | Upper respiratory tract infection | Loss of motor abilities, nystagmus, tetraplegia, intermittent dystonia, opisthotonus, seizures, and feeding difficulties | Not described | Generalized hypo-intensity of the white matter in T1-weighted images, which turned hyperintense in T2-weighted section | EIF2B5- 3q27 cr | Death at 18-mo |
ROSEMBERG ET AL (2002) [19] | 15- mo | Not reported, first investigation after brother’s death | Worsening in psychomotor development from 2-mo, progressive psychomotor deterioration, generalized seizures | Generalized seizures | Diffuse involvement of hemispheric and cerebellar white matter, external capsules, corpus callosum and pons | UK | At 2 years 8 months of age bedridden without contact with surroundings |
ROSEMBERG ET AL (2002) [19] | 8-mo | Not reported | Hypotonia, loss of head control, hypertonia of limbs | EEG showed generalized slow waves, seizures not described | Diffuse involvement of the supratentorial white matter hypointensity on T1-weighted images and hyperintensity on T2-weighted images | UK | Progression of hypertonia, loss of visual contact, deceleration of head circumference in the next 2 years |
SIJENS PE ET AL (2005) [20] | 15-mo | Febrile illness with vomiting, worsening after head injury | Ataxia, spasticity, seizures | Not described | hypointensity of cerebral white matter | UK | Not reported |
SHARMA ET AL (2014) [21] | 18-mo | Febrile illness 5-mo before | Spasticity of limbs with dystonic posture, regression of milestones | Absent | Extensive white matter rarefaction in FLAIR images involving posterior limb of internal capsule, corpus callosum and cerebellar white matter | EIF2B5 compound heterozygous mutation | Not reported |
HATA ET AL (2014) [22] | 10-mo | Not reported | Seizures, Physical and mental deterioration, | clonic convulsions with facials twitches | progressive dilatation of the lateral ventricles and vanishing white matter | EIF2B2 | Death at 4 years old |
TAKANO ET AL (2015) [23] | 4-mo | Vaccination three days before | Intractable seizures, lethargy, vomiting, rapid neurological deterioration | Refractory complex-partial seizures, several status epilepticus, EEG with high voltage multifocal spikes | Diffuse bilateral symmetrical abnormal signal of the deep WM characterized by a FLAIR hypointensity | EIF2B5 compound heterozygous mutation | Bedridden, spastic quadriplegic, home oxygen therapy and nasoduodenal feeding at 25-mo |
GUNGOR ET AL (2015) [24] | 3-mo | Not reported | Refractory generalized tonic, myoclonic seizures, psychomotor development deteriorated | EEG with voltage suppression in both hemispheres and sharp spike-slow-wave complexes in the right hemisphere | cerebral and cerebellar WM involvement with progression to cerebellar atrophy and cystic degenerations in cerebral WM | EIF2B4 homozygous mutation | severe mental and motor retardation after 8-mo |
ESMER ET AL (2017) [25] | 13-mo | Fever illness | Hypotonia, drowsiness, focal seizures, cognitive and motor deterioration | Not described | Generalized WM hypointensity | EIF2B5 Homozygous mutation exon 2 | Death at six years due to respiratory failure |
SONG ET AL (2017) [26] | 4-mo (older brother) | Finding of prenatal ventriculomegaly | Generalized seizures, poor head control, severe extremity spasticity with scissoring lower-extremity posture and hyperreflexia | Generalized seizures, no more description | First performed at 3-mo: diffusely abnormal cerebral WM signal with antero-temporal and parieto-occipital cysts | EIF2B3 Homozygous mutation | neurologic status declined, death at 8.5 months of respiratory arrest |
SONG ET AL (2017) [26] | Prenatal (younger brother) | Prenatal bilateral ventriculomegaly and intrauterin growth retardation | spasticity, encephalopathy | Not reported | Fetal MRI: diffusely abnormal cerebral WM | EIF2B3 Homozygous mutation | failure to thrive and death by 8 months of age from respiratory arrest |
PORCIUNCULA ET AL (2018) [27] | 5-mo | Illness fever with conjunctivitis two day before | Refuse breastfeeding, lethargy, hypotonia, seizures, neurological regression | Tonic–clonic refractory seizures with masticatory movements, | Abnormal diffuse and symmetric signal affecting the WM | EIF2B5 homozygous mutation | Coma state after acute infection with epileptic state ending with death at 11-mo |
REZAEI ET AL (2018) [13] | 4-mo | Not reported | Poor weight gain, refractory epilepsy, hypotonia, microcephaly, dense cataract, global developmental delay | frequent seizures with staring, clonic movements of the left side limbs and truncal hypotonia | Abnormal diffuse signal affecting the WM with early cistic degeneration | EIF2B2 homozygous mutation | Seizures under control at 12 months with multiple AED, home oxygen therapy and mechanical ventilation throught T-tube |
OUR PATIENT | 2-mo | Vaccination, viral infections | Epilepsy, development deteriorated, feeding difficulties | complex partial seizures secondarily generalized, masticatory movements | Reduction of WM in the cerebral hemispheres, in ponto-mensencephalic tegmentum and complete involvement of the bulb | EIF2B2 homozygous mutation | Death |