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pro vyhledávání: '"Sarah Bieser"'
Autor:
Sarah Bieser, Karen Gauvain, Mohamed S. AbdelBaki, Stephen R. Braddock, Samer K. Elbabaa, Miguel A. Guzman, Martin Reis
Publikováno v:
American journal of medical genetics. Part A. (4)
Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with an unknown etiology. Since 1970, around 60 cases have been reported in English literature. ECCL is usually classified by cutaneous lesions and non-progressive intracranial
Autor:
Samer K. Elbabaa, Sarah Bieser, Martin Reis, Mohamed S. AbdelBaki, Miguel A. Guzman, Ashima Agarwal, Paul V. Birinyi
Publikováno v:
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 31(3)
We report a case of a four-year-old male who presented with symptoms of brainstem compression and lower cranial nerve neuropathies. MRI revealed a large, pre-pontine mass causing brainstem compression with an uncertain intra-axial component. Using di