ABSTRACT
Collagen XII, a member of a protein family called fibril associated collagen with interrupted triple helices (FACIT), is an important component of extracellular matrix and is essential for bridging the neighbouring fibrils. Mutations in collagen XII have been recently described to cause a rare extracellular matrix-related myopathy in those whose phenotype resembles collagen VI-related dystrophies and were negative for pathogenic variants in COL6A genes. The authors report a 4-year old girl presented with a phenotype mimicking Ullrich congenital muscular dystrophy and genetically confirmed to have pathogenic variants in COL12A1 gene thus, expanding the phenotypic spectrum of COL12A1-related myopathy.
Subject(s)
Muscular Diseases , Muscular Dystrophies , Female , Humans , Child, Preschool , Collagen Type XII/genetics , Collagen Type XII/metabolism , Muscular Diseases/pathology , Muscular Dystrophies/congenital , Collagen/genetics , Extracellular Matrix/genetics , Extracellular Matrix/metabolism , Extracellular Matrix/pathology , Mutation/geneticsABSTRACT
Neurosyphilis, a chronic infection of the nervous system by Treponema pallidum can present in all stages of syphilis. Recently, it is found that neurosyphilis presents with novel manifestations. Here, we report a young patient who had neurosyphilis presenting as Normal Pressure Hydrocephalus (NPH) with bilateral optic atrophy. The patient showed improvement with treatment for neurosyphilis. Hence, it is evident that in young patients presenting with NPH and associated features, secondary etiologies should be investigated.
