RESUMO
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant disorder associated with recurrent mononeuropathies following compression or trivial trauma. Reports on sciatic neuropathy as the presenting manifestation of HNPP are very scarce. We report on a 21-year-old previously healthy man who was admitted with sensorimotor deficits in his left leg. He had no history of preceding transient episodes of weakness or sensory loss. Clinical and electrophysiological examinations were consistent with sciatic neuropathy. Cerebrospinal fluid investigation and MRI of the nerve roots, plexus, and sciatic nerve did not indicate the underlying aetiology. When extended electrophysiological tests revealed multiple subclinical compression neuropathies in the upper limbs, HNPP was contemplated and eventually confirmed by genetic testing.
Assuntos
Neuropatia Hereditária Motora e Sensorial/diagnóstico , Neuropatia Hereditária Motora e Sensorial/genética , Neuropatia Ciática/genética , Adulto , Artrogripose/diagnóstico , Artrogripose/genética , Artrogripose/terapia , Deleção Cromossômica , Diagnóstico Diferencial , Terapia por Estimulação Elétrica/métodos , Seguimentos , Neuropatia Hereditária Motora e Sensorial/terapia , Humanos , Masculino , Síndromes de Compressão Nervosa/diagnóstico , Síndromes de Compressão Nervosa/genética , Síndromes de Compressão Nervosa/terapia , Paralisia/diagnóstico , Paralisia/genética , Paralisia/terapia , Modalidades de Fisioterapia , Pressão , Neuropatia Ciática/diagnóstico , Neuropatia Ciática/terapia , Adulto JovemRESUMO
Arthrogryposis multiplex congenita syndrome, characterized by multiple congenital joint contractures, is a manifestation of a neurogenic or myopathic disorder of unknown etiology. An accurate diagnosis is critical in management strategy. Muscle biopsy is usually the most important diagnostic procedure. Once the diagnosis is established, a team approach to comprehensive care is instituted, and the child is assisted in achieving maximum cognitive, physical, and social development. Physicians, nurse clinicians, therapists, social workers, and others constitute the team and work in coordination to develop an individual habilitation plan. The treatment plan is continually updated and modified as needed. Because the musculoskeletal deformities are generally the most prominent abnormality, the orthopedist usually has the major role in management. The orthopedist may serve as coordinator of the comprehensive care team and therefore must have a fundamental understanding of and global approach to management.