Context: Cystic leukoencephalopathy without megalencephaly is a very rare entity in children, presenting clinically with non-progressive encephalopathy, normo or microcephaly, and early onset of severe psychomotor impairment. To date, fewer than 30 cases have been described. The association of this entity with bilateral sensorineural hearing loss has been reported previously in literature only in three case reports. Case report: Here we report the case of a 4 year old normocephalic male child presenting with mental retardation and bilateral congenital deafness. An MRI (3 Tesla) study of brain revealed bilateral symmetrical anterior temporal lobe subcortical cysts, patchy multifocal subcortical and pericystic white matter hyperintensities and dilatation of temporal horns of both lateral ventricles. A BAER test confirmed the presence of bilateral sensorineural hearing loss in the child. Conclusion: The clinical signs and cranial MRI findings were similar to a handful of reports published in literature and hence led to the diagnosis of this rare disease. Furthermore we report the association of this entity with bilateral sensorineural hearing loss.
Neetu Soni, Shamick Biswas and Sunil Kumar