RESUMO
Hereditary Sensory and Autonomic Neuropathies comprise a set of 5 rare neurologic conditions, little known to radiologists as the neurologic and skin abnormalities precede the radiographic changes by months or even years. We report a Caucasian patient with a clinical history of HSAN, most consistent with subtype 1, whose progressive, destructive bone changes of the foot were not only controlled but to a degree reversed by the administration of bisphosphonates (Alendronate ) and vitamin D (Colecalciferol). The authors believe that combined bisphosphonate and vitamin D therapy is the treatment of choice for progressive bony changes in HSAN1. This therapy may be beneficial in other neuropathic osteoarthropathies and possibly osteolytic bone disorders.
Assuntos
Alendronato/uso terapêutico , Colecalciferol/uso terapêutico , Difosfonatos/uso terapêutico , Fraturas Ósseas/tratamento farmacológico , Neuropatias Hereditárias Sensoriais e Autônomas/tratamento farmacológico , Vitamina D/uso terapêutico , Feminino , Fraturas Ósseas/etiologia , Neuropatias Hereditárias Sensoriais e Autônomas/complicações , Neuropatias Hereditárias Sensoriais e Autônomas/fisiopatologia , HumanosRESUMO
Familial expansile osteolysis (FEO, MIM174810) is a rare syndrome which was observed world-wide in only three kinships and in two unrelated American individuals. We report a patient with familial expansile osteolysis from the Czech Republic, not related to the previously reported cases. This patient's extraordinary clinical course does not conform to the ordinary. Her radiographic bone involvement was unusually extensive, involving most of the peripheral skeleton and the skull. This case documents that familial expansile osteolysis is not only a disease of adults but does occur in childhood.