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INCIDENTAL KLIPPEL: FEIL SYNDROME TYPE III PRESENTING WITH ASYMMETRIC QUADRIPARESIS
  1. B Aji*,
  2. A Nicolson,
  3. T Piggott
  1. The Walton Centre for Neurology and Neurosurgery

    Abstract

    Background We would like to present a 30-year-old patient with Klippel—Feil syndrome (KFS) type III whose initial presentation was with spastic quadriparesis. Such cases are rarely reported as first presentation in adults. KFS type III is associated with fusion of both cervical and lower thoracic or lumbar vertebrae and often associated with other developmental abnormalities and diagnosed early in childhood.

    Case presentation A 30-year-old lady who had normal birth and developmental milestone presented for the first time with progressive asymmetrical weakness in both her legs following a minor trauma when she accidentally tripped over a kerb and fell. She immediately felt numbness and parasthesia from her neck below. A few days later, she developed progressive weakness of her left upper limb followed by weakness of her left lower limb. On examination she had asymmetric spastic quadriparesis. MRI brain scan was normal. MRI scan of the spine showed extensive KFS with amalgamation of C2 and C3 vertebrae and the migration from C6 inferiorly. There was fusion of the thoracic spine from thoracic–cervical junction down to the T11–T12 disc. The upper and mid lumbar spines were also fused. There is severe atrophy of the cervical cord at the cranio–cervical junction with tethering of the cord.

    Conclusion Type 3 KFS's patients usually present in their childhood often associated with other developmental anomalies. Our patient presented in her thirties with asymmetric spastic quadriparesis.

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