Galloway-Syndrom

A familial

case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report. Upper gastrointestinal examination of Case II-1. Anteroposterior (a) and lateral (b) projections revealed an upward dislocation of the stomach into the mediastinum, which is compatible with a hiatal hernia

A familial

case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report. Patients’ brain magnetic resonance images (MRIs). Axial T2-weighted MRI (a) of Case II-1 taken at 2 weeks of age shows a simplified gyral pattern with too few and shallow sulci and normal cortical thickness. Follow-up axial T2-weighted MR image (b) acquired at 4 months of age shows a progression of diffuse brain atrophy with subarachnoid space widening. Axial T2-weighted MRI (c) of Case II-2 obtained at 3 weeks of age shows a similar pattern of simplified sulcation as the sibling. Note extensive fluid collection in the scalp (arrows)

Galloway-Mowat

syndrome in Taiwan: OSGEP mutation and unique clinical phenotype. Images of fetal ultrafast MRI. a Patient III-1 at 34 weeks of gestation shows pachygyria, especially in the bilateral frontal lobes, and poor myelination of the white matter (b) Patient III-2 at 32 weeks of gestation shows hypomelination with T2 hyperintensity in bilateral cerebral white matter, particularly both temporal lobes (arrows), and prominence of retrocerebellar cisterns due to cerebellar atrophy (arrowheads)

Galloway-Mowat

syndrome in Taiwan: OSGEP mutation and unique clinical phenotype. Brain images of the patients. a Non-contrast enhanced axial carnial CT scan of patient II at 2 days of age showed pachygyria involving bilateral cerebral hemispheres. b Axial sections of MRI of patient III-1 at 9 weeks of age showed gyral abnormalities, frontal pachygyria, and deficient myelination. c MRI of patient III-2 at 6 days of age showed pachygyria and hypomyelination with T2 high signal intensity of white matter in bilateral frontal and temporal lobes. d Non-contrast enhanced axial carnial CT scan of patient V at 1 month of age showed pachygyria involving bilateral cerebral hemispheres

Novel

homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature. a Pedigree of patient 1 with a likely pathogenic OSGEP variant, c.81C > G p.(Asn27Lys), in homozygosity while his consanguineous parents are healthy heterozygous carriers. b The identified missense variant c.81C > G p.(Asn27Lys) affects a totally conserved amino acid N27 in OSGEP orthologs. c Silver-stained renal biopsy from patient 1 showed glomerular collapse with mesangial matrix increase, atrophic tubules, and interstitial fibrosis on light microscopy. d CMRI performed in patient 1 at 8 months of age: sagittal 3 Dimensional Imaging T1 sequence (a), axial reconstructions (b–e), and axial Turbo Spin Echo (TSE) T2 (f–j). k–o: Sequence TSE T2 of normal control individual. MRI revealed craniofacial disproportion in relation to microcephaly (a); supratentorial cortico-subcortical atrophy with increased extra-axial space, prominence of the frontal horns, and thinning of the corpus callosum (red arrow in a); bilateral subdural frontoparietal hygromas (red asterisks in h–j); and atrophy of the basal ganglia (h). A decrease in the number and depth of the grooves was observed (h–j) and there was an absence of normal myelination of the brainstem (red arrow in f), cerebellar peduncles (blue arrow in f), internal capsules (red arrow in h), and white bihemispheric substance (arrows in i and j). Hypointense T2 signal of the thalamus was evident (blue arrow in h). Enucleation of the left eye is denoted by the yellow arrow in f. Finally, there was an increase in the thickness of the cranial and facial subcutaneous cellular tissue (green arrows in a and b)