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566 Klippel Treunanay Syndrome in Differential Diagnosis of Cerebral Palsy
  1. P Karakaya1,
  2. Y Topçu1,
  3. E Bayram1,
  4. U Yis¸1,
  5. H Çakmakçı2,
  6. S Hız1
  1. 1Pediatric Neurology
  2. 2Radiology, Dokuz Eylül University, Izmir, Turkey

Abstract

In cerebral palsy (CP) atrophy of the paretic body half results in disturbed growth. Disturbed growth is also a feature of a rare disorder; Klippel Treunanay syndrome (KTS). Here we report a child with an initial diagnosis of CP because of limping and thinning of the extremities on the right side who had a final diagnosis of KTS. Five year old male was admitted to our department of Pediatric Neurology. He had been followed up with the diagnosis of CP since he started walking because of limping and thinning of the extremities on the right side of his body. His perinatal and natal period was uneventful. Developmental milestones were normal. On physical examination hypertrophy of the left upper and lower extremities with widespread port wine stain on his face, lower lip, arms, legs and trunk were noted. Brain magnetic resonance imaging revealed vascular malformations located periventricularly and adjacent to the corpus callosum. On brain magnetic resonance angiography ectatic, varicose deep veins (venous malformations) were detected. Lower extremity MRI showed hypertrophy of bones and soft tissues on the left side. As the child has capillary malformations (port wine stain), soft tissue and bone hypertrophy and vascular malformations a diagnosis of KTS was made. KTS consists of two major features; congenital vascular malformations and disturbed growth. For diagnosis presence of either capillary or venous malformations with disturbed growth of the bone or soft tissues is required. Children with the diagnosis of CP should be carefully examined for any finding suggesting a genetic disease.

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