ABSTRACT
Fetal akinesia deformation sequence (FADS), or Pena-Shokeir phenotype is a constellation of deformational changes resulting from decreased or absent fetal movement, and include arthrogryposis, and craniofacial and central nervous system anomalies. We report an autopsy case of a 36-6/7week female neonate with a normal female karyotype and chromosome microarray demonstrating findings consistent with FADS. We provide a detailed examination of the severe and complex central nervous system abnormalities, including marked pontocerebellar hypoplasia and cortical and cerebellar migration and gyration defects. This case represents a rare detailed examination of the central nervous system of a patient with FADS.
Subject(s)
Humans , Female , Infant, Newborn , Arthrogryposis/pathology , Phenotype , Autopsy , Central Nervous System/abnormalities , Corpus Callosum/pathology , Fetal Movement , KaryotypeABSTRACT
Arthrogryposis multiplex congenita is reported for the first time in the Aberdeen Angus (AA) breed in Uruguay. In a commercial herd of 30 purebred Aberdeen Angus cows, two calves with severe musculoskeletal malformations died at birth. The cows had been inseminated using semen imported from Argentina from one elite AA sire only. At necropsy, one calf showed severe muscular atrophy, arthrogryposis affecting all four limbs and the spine, kyphoscoliosis and torticollis. Histopathology showed muscular atrophy with marked fiber size variation and abundant fibroadipose fibers. The central nervous system only showed congestion and edema due to dystocia, whereas the peripheral nerves and the number of motor neurons in the spinal appeared normal. DNA analysis confirmed arthrogryposis multiplex congenita. It is concluded that disease in Aberdeen Angus cattle is due to failure in the neuromuscular junction.(AU)
Artrogripose múltipla congênita é relatada pela primeira vez em bovinos Aberdeen Angus (AA) no Uruguai. Num rebanho comercial de 30 vacas a Aberdeen Angus, dois bezerros com graves malformações musculoesqueléticas morreram logo após o nascimento. As vacas foram inseminadas utilizando sêmen importado da Argentina, de apenas um touro de elite de AA. Na necropsia, um dos bezerros apresentava atrofia muscular grave, artrogripose afetando todos os quatro membros e a coluna vertebral, cifoscoliose e torcicolo. A histopatologia demonstrou atrofia muscular com acentuadas variações no tamanho das fibras e abundantes fibras fibroadiposas. O sistema nervoso central apresentava apenas congestão e edema devido à distocia, enquanto os nervos periféricos e o número de neurônios motores na medula espinhal pareciam normais. A análise de DNA confirmou artrogripose múltipla congênita. Concluiu-se que a doença em bovinos Aberdeen Angus se deve a falha na junção neuromuscular.(AU)
Subject(s)
Animals , Cattle , Arthrogryposis/pathology , Arthrogryposis/veterinary , Cattle Diseases/congenital , Uruguay , Muscular Atrophy/veterinaryABSTRACT
Giant congenital nevomelanocytic nevus (GCNN) is a rare variant of congenital melanocytic nevus measuring >20 cm in size that often has a garment-like distribution. Regular follow up is recommended because of a risk of melanoma transformation of 4.6%. We report a 14-year-old boy with gradual regression of giant congenital melanocytic nevus over the left upper limb, chest, back and axilla, whom we have followed-up since birth. At birth, a hyperpigmented jet-black patch without hair was present over the left side of torso and upper limb including palms and nails. Follow up at the ages of 1, 5, 11 and 14 years showed progressive spontaneous regression of the nevus resulting in shiny atrophic skin, diffuse hypopigmentation, lentigo-like macules, nodules and arthrogryphosis of affected areas. Histopathology of the lesions on follow-up revealed absence of pigmented nevus cells in the regressing areas and thickened sclerotic collagen bundles.
Subject(s)
Adolescent , Arthrogryposis/pathology , Biopsy , Disease Progression , Humans , Lentigo/pathology , Male , Nevus, Pigmented/congenital , Nevus, Pigmented/pathology , Remission, Spontaneous , Severity of Illness Index , Skin/pathology , Skin Neoplasms/congenital , Skin Neoplasms/pathologyABSTRACT
A case of arthrogryposis multiplex congenita distal type II associated with facial abnormality, renal abnormality, postaxial poydactyly and Hirschprung's disease is described. It appears to be a new form of an autosomal recessive disorder.
Subject(s)
Abnormalities, Multiple , Arthrogryposis/pathology , Humans , Infant, Newborn , MaleSubject(s)
Humans , Arthrogryposis/pathology , Kinesiology, Applied , Shoulder , Elbow , Wrist , Hip , Knee , FootABSTRACT
Säo analisados os resultados obtidos em 15 pacientes portadores da síndrome artrogripótica submetidos a biópsia por técnica histoquímica e comparados os achados com os resultados de exames eletroneuromiográficos. Fica demonstrada neste estudo uma evidência segura de que as desproporçöes e predominâncias entre fibras dos tipos 1 e 2 devem ser agrupadas entre as neuropatias
Subject(s)
Humans , Arthrogryposis/pathology , Electromyography , HistocytochemistryABSTRACT
Os autores apresentam o estudo de 25 pacientes portadores de síndrome artrogripose múltipla congênita. A biópsia foi realizada em músculo deltóide e o material foi submetido a coloraçäo histoquímica, detectando-se as características histológicas do tipo neurogênico, miopático e inflamatório das doenças de base. Adotamos no estudo clínico a classificaçäo proposta e adotada por hall & cols. A definiçäo clara do tipo clínico nos traz subsídios importantes para a programaçäo do tratamento ortopédico e fisiátrico para cada paciente