ABSTRACT
Objective:
To describe the case of a child diagnosed with leukoencephalopathy with vanishing white matter (LVWM), a rare genetic disease with autosomal recessive inheritance pattern.
Case description:
A 5-month-old male child started to refuse breast-feeding, showing somnolence and signs of dehydration,with dry mouth, increasing body temperature and adipsy. As days went by, the symptoms got worse. The infant was very sleepy and was transferred to the intensive care unit, where he stayed for one week. At this time, a signal alteration with hyper attenuated T2 predominance was identified in the magnetic resonance imaging, compromising the white matter, which had diffuse and symmetrical aspect. At this time, the infant started to present seizures. When the infant was 11 months old, he was diagnosed with tonsillitis and presented recurrent fever peaks and extreme sleepiness. After hospital admission, the infant progressed to a comatose state and died. The diagnosis of LVWM was confirmed in examinations performed after death. As a late diagnosis, a genetic disease was identified with a mutation in one of the five genes responsible for the codification of complex eukaryotic translation initiation factor 2B (eIF2B), involved with the control of the protein translation and which is described as pathogenic in individuals with LVWM.
Comments:
LVWM is a hereditary brain disease that occurs primarily in children. The disease is chronic and progressive, with additional episodes of rapid deterioration, as shown in the present case report.
Keywords:
Leukoencephalopathy with vanishing white matter; Genetics; Central nervous system; Child