Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in POMGNT1 Gene

Muscular dystrophy-dystroglycanopathy is a heterogeneous group of inherited muscular dystrophies caused by glycosylation defects associated with different mutations. The main finding of the disease is disruption of the binding of cellular alpha-dystroglycan to its extracellular matrix ligands. O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 is one of the pathogenic genes involved in glycosylation defects of alpha-dystroglycan. Herein, we report a patient diagnosed with muscular dystrophy-dystroglycanopathy 3 with the determination of a compound heterozygote novel mutation on O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 gene, which was not reported before in literature

A Rare Syndrome and a Rare Association: Dandy-Walker Malformation and Cockayne Syndrome in a Child

Cockayne syndrome is a rare autosomal recessive, neurodegenerative disorder characterized by a broad spectrum of clinical symptoms. Herein, we will describe a patient diagnosed with Cockayne syndrome by genetic testing who was also determined to be having Dandy-Walker malformation in brain imaging. In this article, we aimed to highlight the general characteristic findings of Cockayne syndrome and to report the togetherness of these two rare entities

Traumatic bilateral vertebral artery dissection at the dural entry point site in a 10-year-old boy

We present a 10-year-old boy who was admitted with headache and neurological symptoms after a trauma in the schoolyard. Cerebral MRI revealed an extensive ischaemia in the bilateral cerebellar hemispheres, left middle cerebellar peduncle, and right vermis. Digital substraction angiography demonstrated bilateral vertebral artery dissections at the dural entry point site. This case emphasises the management of patients with traumatic vertebral artery dissection