Leukoencephalopathy with cerebral calcifications and cysts: a case report

Case presentation: A 5-year-old girl initially suspected of having neurofibromatosis type 1 (NF1) due to developmental delay and café au lait spots. In March 2022, evolved with neurodevelopmental regression, progressive loss strength gait ataxia. Three months later she had an afebrile epileptic seizure, a computed tomography (CT) scan the brain was performed, which showed leukoencephalopathy microcalcifications cysts, largest in right semi-oval center. Upon admission, could no longer stand without support, presenting divergent deviation eye, worsening speech but impairment swallowing or cognition. On physical examination, obeyed commands, isochoric photoreactive pupils, strabismus, decreased trophism, axial hypotonia, partial cephalic appendicular left distal hypertonia alteration, asymmetrical phasic myotatic reflexes, several spots trunk arms. new CT, cranial neuraxial magnetic resonance imaging ruled out lesions suggestive NF1. The patient evaluated by ophthalmology team that retinal lesions. Neurosurgery chose not intervene given location cyst. Genetic testing for Labrune Syndrome still result.