Leucoencefalopatía megalencefálica con quistes: importancia de la descripción clínica en la era genética

Ballesteros-Cogollos, V; Morell-García, M; Pérez-Gramunt, M Aleu; Montesinos-Sanchis, Elena; Mirón-Mombiela, R; Martínez-Martínez, J C; Tomás‐Vila, Miguel; Martínez-Castellano, F

doi:10.33588/rn.7110.2020520

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2023

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“…megalocephaly which is a hallmark feature of MLC, primarily affecting white matter of the brain [6] which can be identified through neuroimaging techniques such as magnetic resonance imaging (MRI). There is progressive neurological deterioration along with fluid field cysts in subcortical regions which is accompanied by enlarged brain size [7]. The combination of megalocephaly and subcortical cysts distinguishes MLC from other leukodystrophies.…”

Section: Discussionmentioning

confidence: 99%

Understanding Van der Knaap’s Disease: A Case Report on Megalencephalic Leukoencephalopathy

Gami,

Teraiya,

Shah

et al. 2023

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Presenting a case report about a 14-year-old female patient presenting with a history of weakness in all four limbs since the age of 5. The patient has a history of difficulty in walking, wearing footwear, climbing stairs, and performing fine motor tasks. During the neurological examination showed mild spasticity, muscle weakness, areflexia, ill-sustained clonus, and sensory deficits. Radiological examination, including a contrast-enhanced MRI of the brain was done which showed findings that are consistent with Megalencephalic leukoencephalopathy with subcortical cysts, also known as Van der Knaap disease.

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Section: Discussionmentioning

confidence: 99%