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Biomédica (Bogotá) ; 34(2): 166-170, abr.-jun. 2014. ilus, tab
Article in Spanish | LILACS | ID: lil-712400

ABSTRACT

La microangiopatía cerebral retiniana con calcificaciones y quistes es una enfermedad poco frecuente, caracterizada por alteraciones cerebrales, retinianas y óseas, así como por predisposición al sangrado gastrointestinal. Existen pocos reportes de casos de esta condición, especialmente en adultos, en quienes la incidencia es baja. Los hallazgos por medio de neuroimágenes son característicos, con calcificaciones bilaterales y múltiples formaciones quísticas. El propósito de este artículo fue hacer una revisión bibliográfica e ilustrar dos casos cuyo diagnóstico fue posible con la ayuda de neuroimágenes.


Cerebroretinal microangiopathy with calcifications and cysts is a rare condition characterized by brain, retinal and bone anomalies, as well as a predisposition to gastrointestinal bleeding. There are few reported cases of this condition in adults, among whom the incidence is low. Neuroimaging findings are characteristic, with bilateral calcifications, leukoencephalopathy and intracranial cysts. The purpose of this article was to do a literature survey and illustrate two cases diagnosed with the aid of neuroimaging.


Subject(s)
Adolescent , Adult , Female , Humans , Ataxia/pathology , Brain Neoplasms/pathology , Brain/pathology , Calcinosis/pathology , Central Nervous System Cysts/pathology , Cerebral Small Vessel Diseases/pathology , Leukoencephalopathies/pathology , Magnetic Resonance Imaging , Muscle Spasticity/pathology , Neuroimaging/methods , Retinal Diseases/pathology , Seizures/pathology , Ataxia/diagnosis , Brain Neoplasms/diagnosis , Calcinosis/diagnosis , Central Nervous System Cysts/diagnosis , Cerebral Small Vessel Diseases/diagnosis , Diagnosis, Differential , Hair Color , Hypopigmentation/etiology , Intellectual Disability/etiology , Leukoencephalopathies/diagnosis , Muscle Spasticity/diagnosis , Quadriplegia/etiology , Retinal Diseases/diagnosis , Seizures/diagnosis , Trochlear Nerve Diseases/etiology
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