A Rare Case of Vanishing White Matter Disease

Vanishing white matter disease (VWMD), also known as childhood ataxia with central hypoventilation, is a rare leukodystrophy that is inherited in an autosomal recessive manner. It is triggered by either traumatic brain injury or a febrile episode. The patient was a three-year-old male child who presented with complaints of fever and diarrhea for three days, along with a paucity of movements of both upper and lower limbs, with decreased tone and diminished reflexes. Previously the child had normal developmental milestones. MRI done showed T2 hyperintensities involving bilateral peri-ventricular white matter, deep white matter, and bilateral sub-cortical U-fibres in bilateral fronto-parietal region and bilateral cerebellar hemispheres. The bilateral external capsule and posterior limb of the internal capsule were also involved. All these findings were likely suggestive of leukodystrophy. Whole exome sequencing was done and a homozygous mutation of the eIF2B5 was noted, which confirmed the diagnosis of VWMD. The physician must keep in mind this diagnosis in cases of sudden motor abnormalities following any event and proceed for early management such as controlling febrile episodes with liberal use of antibiotics and antipyretics, along with prevention of traumatic brain injury or any stressful event. There is no definitive treatment. Management of these patients includes symptomatic and supportive care. Patients with this disease (VMND) have a poor quality of life as the disease progresses and eventually, death occurs.