Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis.

We ascertained two unrelated consanguineous families with two affected children each having microcephaly, refractory seizures, intellectual disability, and spastic quadriparesis. Magnetic resonance imaging showed atrophy of cerebrum, cerebellum and spinal cord, prominent cisterna magna, symmetric T2 hypo-intensities in the bilateral basal ganglia and thinning of corpus callosum. Whole-exome sequencing of three affected individuals revealed c.105C>A [p.(Tyr35Ter)] variant in AIMP2. The variant lies in a common homozygous region of 940 kb on chromosome 7 and is likely to have been inherited from a common ancestor. The phenotype noted in our subjects' shares marked similarity with that of hypomyelinating leukodystrophy-3 caused by mutations in closely related gene AIMP1. We hereby report the first human disease associated with deleterious mutations in AIMP2.

Comparative morphometric evaluation of the brainstem in neurodegenerative diseases with healthy individuals using magnetic resonance imaging.

OBJECTIVE: Measurement of a component within the reference value is a widely used parameter in Biomedical Science. This study highlights the value of morphometric changes in healthy individuals' brainstem structure and their application in the detection and diagnosis of neurodegenerative disorders. METHODS: This retrospective study included magnetic resonance (MR) images of 50 healthy individuals without neurological diseases, 35 clinically diagnosed individuals with Parkinson's disease (PD), and 12 individuals with Progressive Supranuclear Palsy (PSP). Measurements of midbrain area, pons area, ratio of midbrain to pons area, superior profile of midbrain, thickness of substantia nigra (SN), cerebral crus width, interpeduncular distance, and concavity of the crus were analysed as per the standard protocol. RESULTS: Patients with PD had mean anteroposterior diameter of 1.11 ± 0.1 cm, which was more than the control group and PSP patients. Additionally, PSP patients showed the least midbrain and pons area of 1.06 ± 0.34 and 4.01 ± 1.2 sq.cm, respectively, compared to other groups. The ratio of midbrain to pons area was the least among PSP patients (0.21 ± 0.06 cm). Mean thickness of the right and left middle cerebellar peduncles (1.25 ± 0.19 and 1.24 ± 0.17 cm) was less in the PD group. The width of the SN gradually reduced in PD and more so in PSP patients. The convex superior profile of the midbrain was a consistent feature in all groups. CONCLUSION: This study highlights the value of morphometrics of the brainstem profile in differentiating neurodegenerative diseases among aged, healthy individuals when combined with their clinical data.

Giant arachnoid granulation with a thrombosed dural arteriovenous fistula.

Arachnoid granulations are common incidentally detected small dural lesions which are usually asymptomatic and follow cerebrospinal fluid density/signal intensity on CT/MRI. Such lesions reaching a size of more than 1 cm are termed as giant arachnoid granulations (GAGs) which have been previously reported to cause venous hypertension and headaches. We report a case of GAG involving the proximal half of the superior sagittal sinus in a 45-year-old male patient which was associated with left temporal thrombosed dural arteriovenous fistula (AVF) whose thrombosed draining veins were seen converging towards the site of GAG. The patient presented with three episodes of generalised tonic-clonic seizures and improved with conservative treatment. No reports of such association of GAG with AVF is available in the literature, and we believe it could have occurred due to venous hypertension induced by GAG.

Multiresolution image registration for multimodal brain images and fusion for better neurosurgical planning.

BACKGROUND: Imaging modalities in medicine gives complementary information. Inadequacy in clinical information made single imaging modality insufficient. There is a need for computer-based system that permits rapid acquisition of digital medical images and performs multi-modality registration, segmentation and three-dimensional planning of minimally invasive neurosurgical procedures. In this regard proposed article presents multimodal brain image registration and fusion for better neurosurgical planning. METHODS: In proposed work brain data is acquired from Magnetic Resonance Imaging (MRI) and Computed Tomography (CT) modalities. CT and MRI images are pre-processed and given for image registration. BSpline deformable registration and multiresolution image registration is performed on the CT and MRI sequence. CT is fixed image and MRI is moving image for registration. Later end result is fusion of CT and registered MRI sequences. RESULTS: BSpline deformable registration is performed on the slices gave promising results but on the sequences noise have been introduced in the resultant image because of multimodal and multiresolution input images. Then multiresolution registration technique is performed on the CT and MRI sequence of the brain which gave promising results. CONCLUSION: The end resultant fused images are validated by the radiologists and mutual information measure is used to validate registration results. It is found that CT and MRI sequence with more number of slices gave promising results. Few cases with deformation during misregistrations recorded with low mutual information of about 0.3 and which is not acceptable and few recorded with 0.6 and above mutual information during registration gives promising results.