Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication.

[wiskott-aldrich syndrome]

Lambert-Eaton myasthenic syndrome (LEMS ) is an autoimmune disease of the presynaptic neuromuscular junction , typically occurring in adults as a paraneoplastic syndrome . Only rare cases have been reported in childhood . In most childhood cases , malignancies have not been detected but a propensity to autoimmune disease was noticed . Nevertheless , little is known about genetic factors that may contribute to the susceptibility of an individual to develop LEMS . We report on a 13 -year -old girl , known with the Xp 11 .22 -p 11 .23 duplication syndrome , who presented with severe non-paraneoplastic LEMS . The potential role of this microduplication syndrome in the development of LEMS is explored . Previous literature review of twelve Xp 11 .2 duplication syndrome patients showed that three of them suffered from various autoimmune diseases . The common duplicated region in those three patients and the presented case comprises 12 disease-associated genes including the FOXP 3 (Forkhead Box P 3 ) and WAS (Wiskott-Aldrich syndrome ) gene , both implicated in immune function . However , it is unclear whether increased gene dosage of one or both of these genes can cause susceptibility to autoimmune diseases . In conclusion , the presented case emphasizes that autoimmune disease is a recurrent feature of the Xp 11 .2 duplication syndrome , which should be considered in the follow-up of these patients . The exact mechanism underlying this autoimmune propensity remains to be elucidated .