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Case Studies | Paediatrics | India | Volume 12 Issue 4, April 2023

Case Study on Rare Disease: Muscle Brain Eye Disease (Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A3)

Dr. Jignesh Makavana ^[2] | Dr. Saurabh Prajapati ^[2] | Dr. Pinakini Tollawala | Dr. Priti Patel

Abstract: A case of Congenital muscular dystrophy-dystroglycanopathy which is Likely Compound Heterozygous in Nature. Including 3 types of Congenital muscular Dystroglycanopathy. Includes Type A3 With Muscle, Brain and Eye, Type B3 with intellectual Disability, Type C3 with Limb Girdle type of Muscular disability. This Patient Having prominent Clinical Features of Type A3 (Muscle brain Eye Disease). This Disorder associated with POMGNT1 mutation with some Pathogenic mutant variant (PVS1, PM2, PP5) lead to A rare autosomal recessive disorder with clinical outline of global developmental delay, midbrain atrophy, cerebral and cerebellar atrophy, cerebellar vermal and pontocerebellar hypoplasia, central hypotonia, distal muscle weakness in upper and lower limbs, and abnormal USG. So, basically this disorder characterized by muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma and brain abnormalities. They also have developmental delay and intellectual disability, a buildup of fluid in the brain (hydrocephalus), and distinctive facial feature. Multiple Neurological abnormalities.

Keywords: Muscle Brain Eye Disease, Limb-girdle muscular, Intellectual Disability, Global Developmental Delay, Hypotonia, Myopia, Glaucoma

Edition: Volume 12 Issue 4, April 2023,

Pages: 834 - 836