RESUMO
In 1947, the Dutch neurologist De Jong published the first family with, what later would be called, hereditary neuropathy with liability to pressure palsies (HNPP). We recently found a new case from this family and were able to confirm the diagnosis by DNA analysis.
Assuntos
Artrogripose/diagnóstico , Artrogripose/história , Neuropatia Hereditária Motora e Sensorial/diagnóstico , Neuropatia Hereditária Motora e Sensorial/história , Adolescente , Artrogripose/genética , Cromossomos Humanos Par 17 , Deleção de Genes , Neuropatia Hereditária Motora e Sensorial/genética , História do Século XX , Humanos , Hipestesia/etiologia , Masculino , Debilidade Muscular/etiologia , Proteínas da Mielina/genética , Países Baixos , Condução Nervosa/genética , LinhagemRESUMO
The Clubfoot painted by José de Ribera depicts a young beggar affected by a typical equinus clubfoot. He shows a contorted right hand and wrist. His left hand holds a begging note, suggesting some difficulty to speak. This condition may be caused by a cerebral palsy, consisting of a brain injury in the left hemisphere responsible for right hemiplegia and speech disturbance. Recently, it was suggested that the boy's condition is a consequence of arthrogryposis, perhaps amyoplasia or distal arthrogryposis type A1. Some clinical features may suggest the diagnosis of Sheldon-Hall syndrome. Considering all the signs represented on the painting, the diagnosis of hemiplegia due to cerebral palsy cannot be discarded. The present article is a novel analysis of the painting based on previously proposed diagnoses of the boy's condition, namely, hemiplegia and arthrogryposis.
Assuntos
Pé Torto Equinovaro/etiologia , Medicina nas Artes , Pinturas , Artrogripose/diagnóstico , Artrogripose/história , Paralisia Cerebral/diagnóstico , Pé Torto Equinovaro/história , Diagnóstico Diferencial , Hemiplegia/etiologia , História do Século XVII , Humanos , MasculinoRESUMO
A sixteenth-century illustrated pamphlet from Great Britain suggests that documentary evidence may permit accurate diagnosis of pathological conditions in earlier societies. The document is of particular importance, since the presented congenital abnormalities, including cleft lip, spina bifida cystica, genu recurvatum, and talipes deformity are reported rarely in archaeological skeletal material. It is suggested that the combination of abnormalities may represent the earliest case of arthrogryposis multiplex congenita or Larsen syndrome.
Assuntos
Anormalidades Múltiplas/história , Artrogripose/história , Fenda Labial/história , Fissura Palatina/história , Deformidades Congênitas do Pé/história , História do Século XVI , Humanos , Recém-Nascido , Masculino , Ilustração Médica/história , Síndrome , Reino UnidoRESUMO
A case of arthrogryposis multiplex congenita in an eight-year-old girl was recounted by Thomas of Monmouth in a mid twelfth-century English hagiographic narrative, The Life and Miracles of St William of Norwich. The child had deformities of both hands and both feet at birth, and she developed torticollis and probably had some degree of hypotonia. She needed total care, her family took her to the tomb of St William in the cathedral at Norwich. This visit produced some sort of improvement in her health. Her parents, seeking a miracle, were satisfied that one had occurred.