RADIOGRAPH BASED DIAGNOSIS OF ARTHROGRYPOSIS MULTIPLEX CONGENITA

Arthrogryposis multiplex congenita (AMC) is a rare disorder, presenting with multiple contractures and limb deformities.Various theories have been proposed for the development of this congenital anomaly. The final diagnosis is made based upon the clinical signs and imaging findings. This case report aims to outline the imaging features that can help radiologists to make the diagnosis of AMC through radiographs and skeletal survey. Since, very few cases have been reported in literature, no specific treatment protocols have been outlined. Therefore, antenatal diagnosis based on characteristic imaging findings is crucial for early termination and parental counselling.

Arthrogryposis multiplex congenita in Aberdeen Angus cattle in Uruguay / Artrogripose múltipla congênita em bovinos Aberdeen Angus no Uruguai

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)

Tratamiento y desenlace obstétrico de una paciente con artrogriposis múltiple congénita / Clinical treatment and outcome of a patient with arthrogryposis multiplex congenita

Resumen ANTECEDENTES: La artrogriposis múltiple congénita es una alteración excepcional, caracterizada por contracturas musculares en diversas partes del cuerpo. Las pacientes embarazadas con esta enfermedad tienen mayor riesgo de complicaciones obstétricas. CASO CLÍNICO: Paciente de 19 años, con artrogriposis múltiple congénita, de ocho semanas de embarazo, quien acudió al servició médico para iniciar el control prenatal. Recibió asesoría de los riesgos cardiovasculares y del sistema respiratorio, secundarios a la enfermedad de base, que pudieran exacerbarse por el embarazo. El ultrasonido efectuado en la semana 22 del embarazo no reportó alteraciones estructurales. La paciente continuó en control prenatal, sin dificultad respiratoria ni alteraciones cardiovasculares. No recibió anticoagulantes profilácticos, ni manifestó signos de trombosis durante el embarazo. Se decidió la interrupción del embarazo por cesárea, debido a la limitación del movimiento de la cadera. Se programó para cirugía en la semana 38.3 del embarazo, con valoración del servicio de Cardiología, quienes reportaron fracción de eyección del ventrículo izquierdo adecuada y sin evidencia de miocardiopatía. Se aplicó anestesia por vía epidural sin complicaciones. El examen físico del neonato no mostró alteraciones. Actualmente, la madre y su hijo permanecen con buen estado de salud. CONCLUSIONES: Las pacientes embarazadas con artrogriposis múltiple congénita deben recibir asesoría de los riesgos inherentes y posibles complicaciones de la enfermedad. Es importante la intervención de un equipo multidisciplinario, para evaluar la función cardiovascular y respiratoria, además de efectuar revisiones seriadas para asegurar el bienestar materno-fetal.

Abstract BACKGROUND: Arthrogryposis multiplex congenita is a rare entity characterized by the appearance of multiple muscle contractures in various parts of the body. Pregnant patients with this condition have a higher risk of complications in obstetric management. CLINICAL CASE: A 19-year-old patient, with arthrogryposis multiplex congenita, eight weeks pregnant, attended in medical service to start prenatal care. Received advice on the cardiovascular and respiratory system risks, secondary to the underlying disease, that could be exacerbated by pregnancy. The ultrasound during the 22nd week of pregnancy did not report any structural alterations. The patient continued in prenatal control, without respiratory difficulty or cardiovascular alterations. Did not receive prophylactic anticoagulants, neither showed signs of thrombosis. We decide finished the pregnancy by caesarean section, due to the limited movement of the hip. Surgery was scheduled at week 38.3 of pregnancy, with assessment by the Cardiology service, who reported adequate left ventricular ejection fraction and no evidence of cardiomyopathy. Epidural anesthesia was applied without complications. The physical examination of the newborn showed no alterations. Currently, the mother and her son remain in good health. CONCLUSIONS: In pregnant patients with arthrogryposis multiplex congenita its important to explain the inherent risks of their condition and their possible complications. Multidisciplinary management should be performed with cardiovascular, respiratory, and serial reviews to ensure the welfare of the maternal-fetal binomial.

Artrogriposis múltiple congénita: espectro de deformidades en el miembro superior, a propósito de una serie de casos / Arthrogryposis multiplex congenita: spectrum of upper limb deformities concerning a series of cases

Resumen Introducción. La artrogriposis múltiple comprende un grupo complejo de patologías que producen disminución de la movilidad articular. Su tratamiento está enfocado en mejorar la movilidad con rehabilitación y cirugía en algunos casos. Objetivo. Mostrar las deformidades por artrogriposis en el miembro superior, los tipos de tratamiento y sus resultados. Materiales y métodos. Se estudiaron 27 casos (19 operados) que fueron agrupados de acuerdo a compromiso distal en dedos o muñeca o proximal en codo y hombro Resultados. El compromiso principal fue de muñecas y dedos, solo se presentaron dos casos con afectación única del codo. Las cirugías comprendieron z-plastias, liberación de placa palmar y fijación de articulaciones; en la muñeca se realizó liberación de partes blandas, fijación provisional y artrodesis. Se dio un caso de liberación del tríceps, otro de liberación de un pterigio y otro de transferencia muscular para flexión de codo. Conclusión. En miembros superiores hay disminución o ausencia de pliegues en zonas de flexión, rotación interna del hombro, limitación marcada de flexión de codo y de la muñeca en flexión y desviación cubital. En los dedos se encontró camptodactilia y aducción del pulgar. Las cirugías mejoraron la función para las actividades diarias. El tratamiento es individualizado y de acuerdo al grado de afectación.

Abstract Introduction: Arthrogryposis multiplex comprises a complex group of pathologies that cause decreased joint mobility. Its treatment is focused on improving mobility through physical rehabilitation and surgery in some cases. Objective: To depict upper limb deformities caused by arthrogryposis, as well as the types of treatment and results. Materials and methods: 27 cases (19 operated) were considered for this study, and were grouped according to distal involvement in fingers or wrist or proximal involvement in elbow and shoulder. Results: The most affected areas were wrists and fingers; two cases of only elbow involvement were observed. Surgeries included z-plasties, palmar plate release and joint fixation. Soft tissue release, provisional fixation and arthrodesis were performed on the wrist. There was one case of triceps release, another of pterygium release and another of muscle transfer for elbow flexion. Conclusion: A decrease or absence of folds in flexion areas, as well as internal shoulder rotation, marked limitation of elbow flexion, wrist flexion and ulnar deviation were observed in the upper limbs. Camptodactyly and thumb adduction were found on the fingers. Surgeries improved daily activities function. The treatment is individualized and takes into consideration the degree of affectation.

Asociación de gastrosquisis y artrogriposis múltiple congénita / Gastroschisis and arthrogryposis: clinical case

Introducción: La gastrosquisis (GQ) es un defecto congénito de cierre de la pared abdominal, a la derecha de la inserción del cordón umbilical. Una cantidad variable del intestino, y en ocasiones, otros órganos abdominales, se hernian fuera de la pared abdominal, sin cobertura membranosa. La Artrogriposis Múltiple Congénita (AMC) comprende un grupo de trastornos reumáticos caracterizados por contracturas articulares múltiples en que se afectan los músculos dorsales y de las extremidades superiores e inferiores. Objetivo: Describir una rara asociación de estas dos malformaciones congénitas. Caso clínico: Recién nacido con GQ clásica Se realizó cierre primario del defecto de pared abdominal en las primeras horas de vida, con buena evolución postoperatoria. Al nacimiento, se apreció además Artrogriposis de articulaciones distales de ambos miembros superiores y atrofia muscular en ellos asociada a paresia severa de miembros superiores. Conclusiones: Recientemente se ha señalado que la asociación entre GQ y AMC pueda ser más frecuente de lo que clásicamente se ha descrito. Aunque la etiología de estas dos afecciones no está clara, el fenómeno que causa la disrupción o accidente vascular podría explicar la coexistencia de estas dos patologías.

Introduction: Gastroschisis is a congenital abdominal wall closure defect, usually to the right of the umbilical cord insertion. A variable amount of the intestine and occasionally other abdominal organs herniate outside of the abdominal wall without a covering membrane. Arthrogryposis Multiplex Congenital (AMC) consists of a group of rheumatic disorders characterized by multiple joint contractures that may affect back muscles and upper and lower extremities. Objective: To describe a rare association of these two birth defects. Case report: Newborn with classical Gastroschisis; primary closure of the abdominal wall defect was performed in the first hours of life, with good results. At birth, Arthrogryposis in distal joints of both upper limbs and muscle atrophy associated with severe upper limb paresis were observed. Conclusions: It has recently been suggested that the association between Gastroschisis and AMC may be more common than previously described. Although the etiology of these conditions is unclear, the phenomenon that causes the disruption or stroke could explain the coexistence of both pathologies.

A Case of Arthrogryposis Multiplex Congenita Diagnosed by Prenatal Ultrasonography / 대한산부인과학회지

Arthrogryposis multiplex congenita is congenital disorder that characterized by multiple joint contractures. Although there are characteristic morphologic features, most of cases are diagnosed at birth and cases diagnosed by prenatal ultrasonography are rare. We describe a case of fetal arthrogryposis multiplex congenita seen prenatally with sonographic feature of multiple joint contractures including clubhands, clubfeet, and absent fetal movements in late second trimester. This report is the first case of arthrogryposis multiplex congenita that diagnosed by prenatal ultrasonography in Korean literature.

Amyoplasia Congenita of the Lower Extremity: Report in a Premature Baby

Amyoplasia congenita is a diagnostic subgroup of children with arthrogryposis multiplex congenita (AMC). AMC is a relatively rare syndrome characterized by multiple joint contractures at birth. Amyoplasia congenita is the most common type of this syndrome with an occurrence rate of 1 in 10, 000 live births, and mainly refers to the disorders with limb involvement. In this report, the author presents a premature baby with amyoplasia congenita, whose hips showed flexion, abduction, and external rotation contractures. The knees showed fixed extension contractures, so that his lower extremities were cylindrical with absent skin creases at birth.

Factors Affecting Recurrence After Soft Tissue Release for Talipes Equinovarus in Arthrogryposis Multiplex Congenita / 대한정형외과학회잡지

Talipes equinovarus deformity associated with arthrogryposis multiplex congenita(AMC) is rigid and its treatment is still controversial. The purpose of this study is to review the trend of recurrence after soft tissue release, and to delineate the risk factors affecting recurrence. Forty-one clubfeet in 24 AMC patients underwent soft tissue release as the first operation at the average age of 1 year 2 months (range, 6 months - 5 years 11 months) and were followed up for an average of 5 year 6 months (range, 2 years 1 month 14 years 5 months). Types of soft tissue release were Turcos posteromedial release (PMR) in 26 cases and posteromediolateral release (PMLR) using the modified Cincinati incision in 15 cases. Recurrences occurred in seventeen clubfeet (41%). A variety of recurrent deformity was corrected by redo PMR or PMLR, osteotomy, talectomy, arthrodesis, or Ilizarov technique. Average number of operations was 1.5 per case. Four parameters were analyzed in relation to recurrence: type of arthrogryposis, initial equinus deformity, type of primary soft tissue release, and age at the first operation. Recurrence occurred in proportion to the severity of initial equinus deformity, and was more frequent in amyoplasia type than in distal arthrogryposis type. However, neither the type of soft tissue release nor the age at the first operation was significant contributing factor to recurrence.

A Case of Neonatal Cholestasis with Arthrogryposis Multiplex Congenita and Renal Tubular Insufficiency(ARC Syndrome)

We report a case of ARC syndrome with arthrogryposis multiplex congenita, renal tubular insufficiency and cholestasis. The Patient presented in the early neonatal period with micrognathia, low set ears, high arched palate, multiple joint contracture, conjugated hyperbilirubinemia and failure to thrive. He died at the age of 1 month despite medical therapy. Findings of renal tubular insufficiency included persistent renal tubular acidosis, glucosuria, aminoaciduria, and proteinuria. Liver biopsy revealed intracellular and canalicular cholestasis, ballooning degeneration and giant cell formation of hepatocyte. Kidney sonography revealed medullary nephrocalcinosis. This association was first reported in 1973 by Lutz-Richner and Landolt and again in another family by Nezelof et al in 1979. Until now, 13 cases were reported worldwide. Except one case, all children died in infancy. Autosomal recessive inheritance is the most likely mode of transmission. We have experienced a case of ARC syndrome in a male neonate with signs and symptoms of lethargy, poor oral intake, direct hyperbilirubinemia, acidosis, and multiple joint contracture.

Arthrogryppsis Multiplex Congenita: Pathologic examination of three autopsy cases

Three autopsy cases of arthrogryposis multiplex congenita are studied. They were two deadborns and one neonatal death. All of them had characteristic abnormalities involving multiple joints. Neither primary myopathy nor abnormalities of anterior horn cells of the spinal cord were detected in our cases. However, two cases had minor central nervous system anomalies. All four cases showed pulmonary hypoplasia of varying degree. Two of three cases showed facial dysmorphism such as micrognathia and low set ears, and one showed cleft lip and palate. Ventricular septal defect, umbilical hernia and ureteral anomalies were also associated.

A case of arthrogryposis multiplex congenita

No abstract available.