Skip to main content

Table 1 Pediatric case reports on vanishing white matter disease with onset in the first two years of lives

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