ABSTRACT
Hemimegalencephaly is a rare congenital anomaly characterized by an increase in the size and dysplastic involvement of one cerebral hemisphere, which can be partial or complete. It may also be associated with anomalies in the cerebellum and brainstem and, in some cases, be a part of different syndromes. The result of these abnormalities leads to intractable epilepsy and developmental delay. Diagnosis is typically made through imaging studies in the postnatal period, but it can also be done before birth. We present the case of a 23-week pregnant patient in whom a prenatal diagnosis of hemimegalencephaly was made, highlighting the need for fetal magnetic resonance imaging (MRI) to confirm the diagnosis.
ABSTRACT
L-2-hydroxyglutaric aciduria (AL2HG) is a rare autosomal recessive neurometabolic disorder. It is characterized by elevated of L-2-hydroxyglutarate and lysine in urine, cerebrospinal fluid and plasma. Patients usually have neurological manifestations including mild to moderate psychomotor developmental delay, cerebellar ataxia, macrocephaly and epilepsy. Magnetic resonance imaging (MRI) has shown abnormalities in the signal intensity of the subcortical cerebral white matter, putamen and dentate nucleus. This article reports a case to demonstrate the classically described imaging findings.
La aciduria L-2-hidroxiglutárica (AL2HG) es un raro trastorno neurometabólico de tipo autosómico recesivo. Se caracteriza por niveles elevados de L-2-hidroxiglutarato y lisina en orina, líquido cefalorraquídeo y plasma. Los pacientes suelen tener manifestaciones neurológicas que incluyen retraso en el desarrollo psicomotor de leve a moderado, ataxia cerebelosa, macrocefalia y epilepsia. En resonancia magnética (RM) se han descrito anormalidades en la intensidad de señal de la sustancia blanca cerebral subcortical, el putamen y el núcleo dentado. En este artículo se presenta un caso para demostrar los hallazgos por imagen que se describen clásicamente.
