ABSTRACT
The aim of the present study was to evaluate MRS findings in patients with Leigh syndrome. We report our results of HMR spectroscopic studies performed in six patients (aged four months to ten years) with clinically proved Leigh syndrome. All examinations were done with 1.5 T scanner using an eight-channel phased array head coil. HMRS data were obtained using 2D-chemical shift imaging (CSI) and SVS sequences with short (30 ms) and long (135 ms) echo time. The MR spectra were acquired in multiple voxel localized in deep gray matter and periventricular white matter. The results were compared to the control group data. In most of our patients we found bilateral lesions in the basal ganglia and brain stem. HMRS data revealed elevated lactate in the affected areas, significantly diminished NAA/Cr ratio. The relatively high Cho/Cr ratio in the gray and white matter was also noted. HMRS is an important tool for non-invasive brain tissue analysis in Leigh syndrome.
ABSTRACT
Classification of cranial encephalocele is based on the anatomic location of the skull defect. Basal sphenoidal encephaloceles are the least common form of encephalocele whose pathogenesis can be congenital, traumatic, tumoral or spontaneous. We present a case of a very rare basal encephalocele protruding through a defect in the greater wing of the sphenoid bone into the pterygoid fossa.
ABSTRACT
Cerebellar lesions in tuberous sclerosis complex are less frequent than cerebral findings. We present the magnetic resonance (MR) features of uncommon cerebellar changes found in a large series of children with tuberous sclerosis complex (TSC). MR examinations of 73 children (38 males and 35 females) with TSC were reviewed. Twelve patients with cerebellar lesions were selected. Patients' ages ranged from 2.5 years to 21.25 (median: 10.6). The number, anatomic location, signal intensity and contrast enhancement of these lesions were evaluated. MR studies were performed with a 1.5 T scanner obtaining T1, T2-weighted images and FLAIR sequences. Gadolinium was administrated in all cases. Cerebellar tubers were found in 12 patients (16.4%). The total number of cerebellar tubers was 21. Most cerebellar tubers were hyperintense on T2-weighted and FLAIR images and slightly hypointense on T1-weighted images. Eleven of these lesions (52.38%) revealed contrast enhancement. None of cortical cerebral tubers showed contrast enhancement. Atrophy of seven cerebellar tubers was noticed. The mutation in TSC2 gene was confirmed in eight patients. Cerebellar tubers are uncommon. They were not found in the absence of cerebral tubers and may associated with parenchymal volume loss.
