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- W4386822810 abstract "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 of strength and gait ataxia. Three months later she had an afebrile epileptic seizure, a computed tomography (CT) scan of the brain was performed, which showed leukoencephalopathy with microcalcifications and cysts, the largest in the right semi-oval center. Upon admission, she could no longer stand without support, presenting a divergent deviation of the right eye, worsening of speech but without impairment of swallowing or cognition. On physical examination, obeyed commands, had isochoric and photoreactive pupils, right divergent strabismus, decreased trophism, axial hypotonia, partial cephalic support, right appendicular hypotonia, left distal hypertonia with strength alteration, asymmetrical phasic myotatic reflexes, several café au lait spots in trunk and arms. A new brain CT, cranial and neuraxial magnetic resonance imaging was performed, which ruled out lesions suggestive of NF1. The patient was evaluated by the ophthalmology team that ruled out retinal lesions. Neurosurgery chose not to intervene given the location of the cyst. Genetic testing for Labrune Syndrome was performed, still without result." @default.
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- W4386822810 date "2023-09-01" @default.
- W4386822810 modified "2023-09-26" @default.
- W4386822810 title "Leukoencephalopathy with cerebral calcifications and cysts: a case report" @default.
- W4386822810 doi "https://doi.org/10.1055/s-0043-1774593" @default.
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