+44 7480725689Sandeep Iratwar
JNMC, DMIMS, deemed to be university, India
ScientificTracks Abstracts: Neurosci
Marfan Syndrome is a spectrum of disorders that are caused by a genetic defect involving connective tissue and is heritable by the autosomal dominant mode of inheritance. The defect. has been traced to gene FBN1 residing on chromosome number 15 coding for fibrillin which is a connective tissue protein. Abnormality in this protein leads to a distinct variety of clinical problems which involve the musculoskeletal, ocular and cardiac systems predominantly. Developmental disorders like rickets, paget��?s disease, hyperparathyroidism, osteogenesis imperfecta and achondroplasia can also result in craniovertebral anomalies. Atlantooccipital assimilation is a partial or complete fusion of the atlas and the occiput base congenitally. Although mostly asymptomatic, some patients with atlantooccipital assimilation may present with neurological issues like compressive cervical myelopathy. Here, we present a case of an 18-year-old male who presented with paraesthesia along both the lower limbs and neck pain which upon investigations turned out to be a case of atlantooccipital assimilation along with basilar invagination with compression of cervico medullary junction. The patient also had marfanoid features like tall stature, reduced upper to lower segment ratio and an increased arm span to height ratio with positive wrist and thumb sign. As myelopathy had already developed the patient was treated surgically in the form of foramen magnum decompression and C1-C2 fixation rather than medical management with a favourable outcome.
Prof. Sandeep Iratwar has completed his DNB neurosurgery in 2011 from National board of examinations, New Delhi. He is the director of Centre of Neurosciences at JNMC, DMIMS university hospital. He is specialised in endoscopic skull base surgery and minimally invasive neurosurgery.
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