Progressive cavitational leukoencephalopathy: An enigma

Abstract

from rapidly progressive deterioration to long periods of clinical stability; in newborns it causes severe neurological and systemic alterations, including seizures, hypotonia, growth retardation, lactic acidosis and respiratory failure [4]. Given the non-specific neurological symptoms and neuroimaging features, a differential diagnosis with infections or immunological conditions that involve the CNS is essential, an important finding Abstract Introduction: Progressive cavitational leukoencephalopathy (PCL) is a recently described pathology, with few cases reported in the world literature. It is characterized by progressive neurological deterioration and characteristic neuroimaging findings, which distinguish this disorder as a unique entity given the massive cystic degeneration . Patients and methods: A case of a female infant with regression of motor skills and speech is described at 27 months, followed by progressive neurological deterioration during the following year. Results: In cranial MR findings, white matter compromise and cystic degeneration with contrast enhancement were observed, along with a brain MRS with double negative lactate spikes. Enzymatic study of leukodystrophies, genetic panel for leukodystrophies, and negative mitochondrial exome. Conclusions: Due to the progressive form of the disease and paraclinical criteria, it is concluded that the patient meets the diagnostic criteria for PCL. This entity does not have treatment; only supportive care is available. The prognosis is fatal, with an average life of up to 14 years in the case studies described.