Harmincéves betegút után igazolt Larsen-szindróma | Larsen-syndrome: final diagnosis following multiple surgical interventions

A Larsen-szindroma a filamin B-asszocialt korkepek csoportjaba sorolhato ritka genetikai csontdysplasia. A korkep fő jellegzetessegei a nagyizuleteket erintő diszlokaciok, scoliosis es cervicalis kyphosis, rovid, szeles, distalis phalanxok es jellegzetes craniofacialis megjelenes. A diagnozist felvetik a jellegzetes radiologiai elteresek, amit a molekularis genetikai vizsgalat tamaszt ala. A szerzők 2005 ota vegzik a korkep hattereben allo filamin B gen molekularis genetikai vizsgalatat, melynek soran tobb klinikailag tanulsagos eset kerult felismeresre. A jelen kozlemeny egy 30 eves nő betegutjat szemlelteti, aki szamos ortopediai műteten esett at veleszuletett csipőficam es labdeformitasok miatt. A genetikai tanacsadot mar felnőttkent kereste fel. A jellegzetes craniofacialis elteresek, a rovid, vaskos ujjpercek, a cervicalis kyphosis es scoliosis felvetettek Larsen-szindroma gyanujat, a molekularis genetikai vizsgalat egy ismert misszensz mutacio (c.G679A) heterozigota hordozasat igazolta. A filamin B gen vizsgalata a csontdysplasiak egy ujabb csoportjaban nyujt molekularis szintű diagnosztikai lehetőseget, megkimelve e ritka betegeket tovabbi felesleges diagnosztikai vizsgalatoktol es biztositva az adekvat szupportiv terapia es gondozas lehetőseget. Orv. Hetil., 2013, 154, 143–146. | Larsen-syndrome is a rare genetic skeletal dysplasia belonging to the group of actin-binding filamin B associated diseases. The features include congenital dislocations of the large joints, scoliosis and cervical kyphosis, short, broad, spatulate distal phalanges, and distinctive craniofacies. Diagnosis is based on clinical and radiographic findings and confirmed by molecular genetic testing. The authors have performed filamin B molecular genetic analysis since 2005 and have found several cases with unusual phenotypes since. This case report presents the diagnostic difficulties of a 30-year-old woman, who was operated several times with congenital hip dislocations and foot deformities. The craniofacial features, short, broad, spatulate fingers, scoliosis and cervical kyphosis directed diagnosis towards Larsen-syndrome and molecular genetic analysis confirmed a previously-described heterozygous missense mutation (c.G679A). They conclude that genetic analysis performed in time would prevent additional superfluous long diagnostic procedures in patients with rare diseases and would ensure adequate supportive therapy and management of the symptoms. Orv. Hetil., 2013, 154, 143–146.