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Review of neurological aspects in a 3-month-old boy with Ehlers-Danlos syndrome (EDS) – case report
Spektrum objawów neurologicznych u 3-miesięcznego chłopca z zespołem Ehlersa i Danlosa (EDS) – opis przypadku

Anna Dobrucka-Głowacka, Department of Paediatrics and Developmental Age Neurology, Upper Silesian Child Health Centre, Medical University of Silesia in Katowice, ul. Medykow 16, 40-752 Katowice, Ilona Kopyta, Aleksandra Jezela-Stanek, Department of Paediatric Neurology, Medical University of Silesia, Faculty of Medicine in Katowice, ul. Medykow 16, 40-752 Katowice, Department of Genetics and Clinical Immunology, Institute of Tuberculosis and Lung Diseases, ul. Plocka 26, 01-138 Warszawa
2018 Child Neurology  

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Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders. The actual classification recognizes 13 subtypes of the syndrome. The classic type is the most common and in 90% of cases is caused by mutations in the COL5A1 and COL5A2 genes responsible for the synthesis of type V collagen. In other cases mutations in the COL1A1 gene encoding type I collagen are responsible for this disease. Classic EDS is characterized by skin hyperextensibility, poor wound
more » ... and joint hypermobility. The clinical manifestation is dominated by symptoms from the musculoskeletal system, cardiovascular system, gastrointestinal tract and nervous system. Patients with Ehlers-Danlos syndrome also have a higher prevalence of obstructive sleep apnoea syndrome. The article presents the case of a 3-month-old boy with a classic type of the syndrome with tonic-clonic seizures, apnoea, fever of unknown cause, delayed psychomotor development with hypotonia, gastroesophageal reflux, fragility of blood vessels and easy bruising.
doi:10.20966/chn.2018.54.424 fatcat:bqfb3kcaprb53l66td7hxfzgee
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Anna Dobrucka-Głowacka, Department of Paediatrics and Developmental Age Neurology, Upper Silesian Child Health Centre, Medical University of Silesia in Katowice, ul. Medykow 16, 40-752 Katowice, Ilona Kopyta, Aleksandra Jezela-Stanek, Department of Paediatric Neurology, Medical University of Silesia, Faculty of Medicine in Katowice, ul. Medykow 16, 40-752 Katowice, Department of Genetics and Clinical Immunology, Institute of Tuberculosis and Lung Diseases, ul. Plocka 26, 01-138 Warszawa. "Review of neurological aspects in a 3-month-old boy with Ehlers-Danlos syndrome (EDS) – case report." Child Neurology 27.54 (2018) 75-78