Review of neurological aspects in a 3-month-old boy with Ehlers-Danlossyndrome (EDS) – case report
Abstract
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 healing 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.
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Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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