case_images: PMC10824937_01
case_images: (A) Pedigree of a consanguineous family with multiple individuals affected with cerebral palsy and developmental and epileptic encephalopathy. The pedigree demonstrates autosomal recessive inheritance. Double lines are indicative of a consanguineous union. Circles and squares indicate females and males, respectively. Triangles indicate spontaneous abortions. Clear symbols signify healthy individuals, and filled symbols signify affected individuals. The arrow signifies the index patient. Numbered symbols indicate the number of siblings. Crossed symbols indicate deceased individuals. (B) MRI brain image. (a) Axial T2-WI image shows diffuse cerebellar volume loss with prominent folia and ex-vacuo dilatation of the fourth ventricle. (b) Axial 21-WI image shows mild diffuse cerebral atrophy with prominent lateral ventricles. Furthermore, there is bilateral low signal intensity in the globus pallidus. (c) Axial susceptibility-weighted image shows bilateral low signal intensity (arrow) in the globus pallidus indicative of iron overload. (C) Photographs of the index facial and body features show hypotonia and contractures in lower and upper limb joints.
case_images: fgene-14-1294214-g001.jpg
case_images: PMC10824937_01_fgene-14-1294214-g001.jpg
case_images: F1
case_images: There are three affected males, two affected females (deceased), and seven healthy children along with several aborted babies in the family (Figure 1A). MRI scanning showed supra- and infratentorial parenchymal volume loss with prominent lateral ventricles (Figure 1B). Neurological examination showed hypotonia and spastic quadriplegia with hyporeflexia and scoliosis (Figure 1C).
case_images: Schematic representation of the UGDH exons and domains. The arrow indicates the position of the missense mutation (c.950G>A) in the reported variant.
case_images: fgene-14-1294214-g002.jpg
case_images: PMC10824937_01_fgene-14-1294214-g002.jpg
case_images: F2
case_images: WES performed on the index cases revealed a rare missense variant in exon 8 of the UGDH gene, NM_003359.3: c.950 G>A, resulting in an arginine 317 to glutamine (R317Q) substitution at a conserved residue in the central domain (Figure 2).