Journal of Pediatrics & Child Care

Research Article

Progressive Cavitational Leukoencephalopathy: An Enigma

Divahia G1, Natalia MC2*, Sara L1 and Eugenia E3

1Pediatric Neurologist, Universidad Militar Nueva Granada,Colombia
2General Practitioner, Universidad Militar Nueva Granada,Colombia
3Pediatric Neurologist at Hospital Militar Central, Universidad Militar Nueva Granada, Colombia
*Address for Correspondence: Natalia MC, Universidad Militar Nueva Granada, Transversal 3 No.49-00, Bogotá, Colombia; E-mail: nataliamartinezc@hotmail.com
Submission: 27 January, 2021; Accepted: 1 March, 2021; Published: 5 March, 2021
Copyright: © 2021 Divahia G, et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.
Conclusion: 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.