RESUMEN
In the present study patients with previously diagnosed MRI-negative temporal lobe epilepsy (TLE) on long-term video electroencephalography (VEEG) monitoring were re-evaluated with high resolution 3T MRI brain to look out for a skull base temporal lobe encephalocoele (TE). A total of 234 VEEGs were analyzed. TLE had been diagnosed in 104 patients based on semiology, ictal, interictal EEG data, and brain positron emission tomography (PET) studies. Of these, 99 patients had temporal lobe abnormality (78 had mesial temporal sclerosis, 8 had tumor, 3 had focal cortical dysplasia, and 10 had mixed pathology). Out of the five 1.5T MRI-negative TLE patients, two patients were diagnosed with TE on subsequent 3T MRI brain scans and one patient underwent electrocorticography-guided tailored resection for complete removal of epileptogenic tissue; with Engels class I seizure freedom at one year follow-up. We propose that TE should be carefully searched for, as a cause of refractory TLE, using high-resolution MRI sequences.
RESUMEN
Childhood cerebral X-linked adrenoleukodystrophy (XALD) typically manifests with symptoms of adrenocortical insufficiency and a variety of neurocognitive and behavioral abnormalities. A major diagnostic clue is the characteristic neuroinflammatory parieto-occipital white matter lesions on magnetic resonance imaging. This study reports a 5-year 10-month old boy presenting with generalized skin hyperpigmentation since 3 years of age. Over the past 9 months, he had developed right-sided hemiparesis and speech and behavioral abnormalities, which had progressed over 5 months to bilateral hemiparesis. Retrospective analyses of serial brain magnetic resonance images revealed an unusual pattern of lesions involving the internal capsules, corticospinal tracts in the midbrain and brainstem, and cerebellar white matter. The clinical diagnosis of childhood cerebral adrenoleukodystrophy was confirmed by elevated basal levels of adrenocorticotropin hormone and plasma very long chain fatty acid levels. Additionally, sequencing of the ABCD1 gene revealed a novel mutation. The only specific palliative therapy that could be offered after diagnosis was dietary intervention. The patient died within 16 months of onset of neurological symptoms. Awareness that childhood cerebral XALD can present with atypical neuroimaging patterns early in its course may aid diagnosis at a stage when definitive treatment can be attempted and timely genetic counseling be offered to the family.
Asunto(s)
Insuficiencia Suprarrenal/etiología , Adrenoleucodistrofia/diagnóstico , Adrenoleucodistrofia/genética , Encéfalo/patología , Mutación Missense/genética , Miembro 1 de la Subfamilia D de Transportador de Casetes de Unión al ATP , Insuficiencia Suprarrenal/genética , Hormona Adrenocorticotrópica/sangre , Preescolar , Resultado Fatal , Humanos , Imagen por Resonancia Magnética , Masculino , Neuroimagen , Resultado del Tratamiento , Sustancia Blanca/diagnóstico por imagenRESUMEN
Chronic vague hip pain may be caused by stress-related injury in the proximal or mid-femoral diaphysis. This has been described as an entity called adductor insertion avulsion syndrome, or thigh splints. In the appropriate clinical setting, the radiologist interpreting the magnetic resonance imaging must be aware of this condition as its imaging findings are subtle. The diagnosis will help the clinician plan the appropriate management. Magnetic resonance imaging can also depict the complications such as stress fracture.