A Case of Skeletal Cystic Angiomatosis, A-V Malformations, and Arnold- Chiari Malformation Type I – A Rare Multicentric Combination Triad of Congenital Malformations.
Journal Title: PARIPEX-Indian Journal of Research - Year 2015, Vol 4, Issue 8
Abstract
A 17-year-old male patient was admitted into our medical ward with complaints of progressive overgrowth of jawbone and occiput since 10 years; protrusion of eyeballs since 3 years; recent onset of weakness in all 4 limbs, paraesthesias, headache, neckpain, and slurred speech. Clinical evaluation revealed small pulsatile swelling over tongue and kyphoscoliosis. Neuroimaging revealed cystic lesions in facial bones, calvarium and multiple vertebrae; arterio-venous malformations of brain; enlarged intra-orbital veins; and chiari malformation type-I. Biopsy from mandible confirmed the diagnosis of skeletal cystic angiomatosis. Finally an unusual combination triad of skeletal cystic angiomatosis, arterio-venous malformations, and chiari malformation type-I was documented in our patient. This rare, multi-centric combination triad of congenital malformations could not be found in literature.
Authors and Affiliations
Dr. A. Ramya, Dr. K. V. Seshaiah, M. D. ,, Dr. K. Ramalakshmi, M. D. ,
Keywords
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