Progressive cavitating leukoencephalopathy: Case report of a rare childhood onset neurodegenerative disease

The leukoencephalopathies with cystic changes form a distinct subtype of childhood onset neurodegenerativedisorders. This group has heterogeneous etiological differentials that primarily include mitochondrial disorders, someleukodystrophies and central nervous system infections. We report this case of a 17-month old girl who presented withseizures, episodic encephalopathy, elevated blood lactate level and lactate peak on magnetic resonance spectroscopy,a typical imaging picture noted on cranial magnetic resonance imaging and absence of deletions or duplications ofmitochondrial deoxyribonucleic acid. Progressive cavitating leukoencephalopathy (PCL) is a recently described entitywith only a few cases reported so far. We report the first case of PCL from India. Accurate diagnosis can be made, notonly, by the presence of typical clinicoradiological findings of PCL, but also by the awareness of, and, ruling out of,the various other differential diagnoses that are discussed in detail below