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PubMedDate not supplied

The association of cortical dysplasia and anterior horn arthrogryposis: a case report.

We describe a 21-year-old woman with neurogenic congenital contractures (arthrogryposis) of the lower limbs, normal intelligence, hyper-reflexia and partial epilepsy. MRI revealed bilateral opercular (perisylvian) cortical dysplasia with infolding of cerebral cortex, a focal neuroblast migrational disorder. This type of migrational disorder is known to have a prenatal onset after the 20th fetal week, whereas the anterior horn cell degeneration responsible of neurogenic arthrogryposis originates at 12-14 weeks of gestation. A prenatal viral infection along the neural axis during both these gestational periods or a genetic defect could be responsible for both lesions in this case.

Adult↗
PubMedDate not supplied

Arthrogryposis multiplex congenita: histochemical study of biopsied muscles.

Morphometric analysis was performed after histochemical staining on 12 biopsied muscles of the affected limbs from 12 patients with arthrogryposis multiplex congenita. Except for one muscle, samples demonstrated variation in fiber size associated with abnormal fiber type distribution suggesting abnormal innervation: large groups of atrophic fibers in one muscle, either type 1 or 2 fiber predominance with occasional fiber type grouping in five, a complete lack of type 2 fibers in one, type one fiber atrophy in one, both type 2A and 2B fiber atrophy in two, and increased number of type 2C fibers in four. In most patients with arthrogryposis multiplex congenita, a defect in neural influence on the developing muscles may be responsible for the absence or maldevelopment of some muscle groups. Underdeveloped muscles are then assumed to induce imbalance of agonists and antagonists resulting in permanent contractures.

Adolescent↗
PubMed1993

Arthrogryposis multiplex in a newborn of a myasthenic mother--case report and literature.

About 12% of children of myasthenic mothers exhibit a transitory myasthenic syndrome. Usually, these symptoms have disappeared after a few weeks. Treatment with anticholinesterase drugs is successful. The purpose of this paper is to present an infant born to a myasthenic mother, with distal arthrogryposis, severe hypotonia and respiratory distress, unresponsive to administration of pyridostigmine bromide. Eleven other cases of neonatal myasthenia with arthrogryposis are known. Five of them were stillborn or died within the first day of life. The surviving children had profound weakness and needed ventilatory assistance for a long period. The severity of these few cases contrasts with the numerous reports of benign and transitory signs of neonatal myasthenia. Passively transferred maternal acetylcholine receptor antibodies may produce illness in the newborn.

Adult↗
PubMed1981

Arthrogryposis multiplex congenita: an autopsy case of a fatal form.

A case of a severe and fatal form of arthrogryposis multiplex congenita with a full necropsy examination is presented in which the central nervous system and many muscles of the four extremities were examined histologically. The most striking feature was a great reduction in the muscular tissue of the limbs with a marked increase in the adipose tissue. The muscular changes were thought to be caused by neurogenic atrophy, and microscopy of the spinal cord revealed developmental abnormalities, including degenerative changes of the anterior horn cells. Neonatal and fatal cases of arthrogryposis multiplex congenita reported in the literature are briefly reviewed, and the characteristics of the present case and its relation to other congenital neuromuscular disorders are discussed.

Adipose Tissue↗
PubMed1986

Arthrogryposis multiplex congenita: spectrum of pathologic changes.

The pathologic features of muscle and/or spinal cord were studied in 96 infants and children with contractures of multiple joints (arthrogryposis multiplex congenita), usually in association with other congenital abnormalities. Ninety of these infants had a neurogenic form of arthrogryposis, and six had primary muscle disease. The neurogenic form, unlike the myopathic form, was usually associated with other congenital abnormalities. The most frequently associated congenital changes were low-set ears, micrognathia, wide flat nose, short neck, congenital heart disease, high-arched palate, hypoplastic lungs, and cryptorchidism. Some of the associated abnormalities could be attributed to muscle weakness, occurring during intrauterine development. A variety of skeletal muscle changes were observed, including primary myopathic alterations, fiber type predominance and disproportion, hypoplasia, aplasia, and denervation atrophy. When the primary alterations were in the spinal cord, abnormalities of anterior horn cells of several distinct types were recognized--absence of cells, diminution, dysgenesis, degeneration, and axonal reaction. The changes in anterior roots corresponded to those of the anterior horn cells.

Abnormalities, Multiple↗
PubMed1996

Arthrogryposis multiplex congenita in a monozygotic twin. An intrauterine lesion?

Arthrogryposis multiplex congenita is a specific, well-defined congenital deformity which primarily affects muscles of limbs resulting in secondary joint deformities. The aetiology is still uncertain. One of monozygotic twin brothers with classical arthrogryposis multiplex congenita is presented, proving that this specific condition is not genetically transmitted.

Arthrogryposis↗
PubMed2000

Mitochondrial complex I deficiency in a female with multiplex arthrogryposis congenita.

A 10-year-old female with arthrogryposis multiplex congenita is presented. Clinical, neurophysiologic, and histologic findings suggested a mild myopathy. The analysis of enzymatic activity in the homogenate and of mitochondrial function in saponin-permeabilized fibers from the muscle biopsy revealed an approximately twofold-decreased specific activity of the NADH:CoQ oxidoreductase (complex I of the mitochondrial respiratory chain) that was compensated for by an increased number of mitochondria. The complex I deficiency was also detected in cultivated skin fibroblasts of the patient. The observed defect of mitochondrial oxidative phosphorylation in arthrogryposis multiplex congenita may be of pathogenetic relevance.

Arthrogryposis↗
PubMed1988

Arthrogryposis multiplex congenita associated with lissencephaly: a case report.

A child with arthrogryposis multiplex congenita and microcephaly is described. Cranial CT-scan and MRI showed abnormalities consistent with type I lissencephaly. The lissencephaly seems to be the primary cause of the congential contractures. Lissencephaly associated with arthrogryposis multiplex congenita has to be considered as a special kind of lissencephaly syndrome.

Arthrogryposis↗
PubMed1988

Arthrogryposis associated with connatal Pelizaeus-Merzbacher disease: case report.

A newborn with multiple congenital contractures (MCC) or arthrogryposis multiplex congenita and a leukodystrophy is described. The clinical features and neurophysiological studies suggested a disorder primarily involving the central white matter. The diagnosis of connatal Pelizaeus-Merzbacher disease was made post mortem. This disorder of myelin formation should be considered in infants presenting with arthrogryposis.

Arthrogryposis↗
PubMed1985

EMG and needle muscle biopsy studies in arthrogryposis multiplex congenita.

From 1979 to 1983, EMG and/or muscle biopsy studies were done in twenty-one of twenty-two patients seen in our institution for the first time for arthrogryposis multiplex congenita (AMC). Most of the muscle biopsies were done with a needle. As expected, the final diagnosis in these patients was very heterogeneous since it is well recognized that AMC can be due to any factor that interferes with fetal mobility. We found however a surprisingly high number of patients (9/22) affected by a myopathic disease. Based on these results, we feel that needle muscle biopsy should be included as a routine procedure in infants affected by AMC since by clarifying the diagnosis it helps in improving genetic counselling and prognosis in these patients. It is now widely accepted that arthrogryposis multiplex congenita (AMC) is not in itself a disease but is secondary to any factor that interferes with fetal movements. The joint deformities seen in these children can be due to mechanical factors (oligohydramnios for example), central or peripheral nervous system disorders, muscle diseases... (Dubowitz 1978, Hageman and Willemse 1983, Hall 1981, Swinyard 1982). However, the relative frequency of each etiologic factor remains unclear since in spite of the abundant literature on the subject, we found only three reports describing the findings of electromyographic (EMG) and muscle biopsy studies done systematically in unselected groups of children affected by AMC (Amick et al 1967, Bharucha et al 1972, Dastur et al 1972, Kullmann and Szijj 1973). Furthermore, each article reached different conclusions in regard to the occurrence of these various etiologies in their respective patients.(ABSTRACT TRUNCATED AT 250 WORDS)

Arthrogryposis↗
PubMed1990

Arthrogryposis multiplex congenita; feeding, language and other health problems.

A survey of the health problems of 87 individuals with arthrogryposis multiplex congenita revealed a high proportion (51) with major feeding difficulties in infancy. This was generally related to structural abnormalities of the jaw and tongue. Children thus involved were more prone to recurrent chest infections, constipation, and poor growth and weight gain. In addition, there was a strong association between initial feeding difficulties and subsequent language problems. Early identification of a sub-group of children with arthrogryposis multiplex congenita is therefore possible who may require continuing therapy from a number of disciplines.

Arthrogryposis↗
PubMed1994

Lethal arthrogryposis in Finland--a clinico-pathological study of 83 cases during thirteen years.

Eighty-three cases of multiple congenital joint contractures, i.e., arthrogryposis, which were related with either a stillborn fetus, a termination of pregnancy following prenatal diagnosis or death within 28 days postnatally, were studied. Sixty-seven cases were neurogenic in origin, including forty-one with the lethal congenital contracture syndrome (LCCS, McKusick 253310), fifteen with milder anterior horn cell involvement, and ten with dysgenesis and degeneration of the CNS. Congenital muscular dystrophy was seen in two cases and nemaline myopathy in one case. A non-neuromuscular basis was established in ten cases, and the cause remained obscure in three cases. Apart from the autosomal recessive LCCS, the fifteen cases with anterior horn cell involvement made up a uniform clinico-pathological entity. In two families this disease recurred twice, and autosomal recessive inheritance is therefore likely. Recurrence was also seen twice in a family with central nervous system degeneration and in another with the oligohydramnios sequence. There are apparently several recessively inherited entities among the arthrogryposis phenotype. A careful clinical study and a neuropathological examination are essential for estimating the recurrence risk.

Arthrogryposis↗
PubMed1978

Scoliosis in arthrogryposis multiplex congenita.

Fourteen of 50 patients studied with arthrogryposis also had scoliosis, an incidence of 28%. Eight patients developed a severe curve associated with functional disability and poor health. Three patients were unable to walk independently, and 2 died in childhood. Seven patients had congenital scoliosis; 4 had long "C" neuromuscular curves, and 3 had scoliosis associated with pelvic obliquity caused by unilateral hip dislocation or contracture. The natural history of congenital and neuromuscular curves was progression to an extreme and rigid scoliosis. The authors urge others to look for scoliosis in their patients with arthrogryposis and to anticipate its progression.

Arthrogryposis↗
PubMed1985

Spinal deformities in patients with arthrogryposis. A review of 16 patients.

Sixteen patients with arthrogryposis having spinal deformities were reviewed. The age of diagnosis of scoliosis was from birth to 15 years. Many different curve patterns were seen. Five patients had decreased anterior-posterior thoracic diameter associated with decreasing vital capacity. One of them died at age 6 months of bronchopneumonia and one other at 16 years from cardiac arrest during surgery elsewhere. Eight patients had nonoperative treatment with an orthosis, and of these, three are still under orthotic care. For the remaining five, one had improved at the end of the treatment, and four had increased curvatures in the orthosis. Six patients underwent surgery, four from the group treated by bracing, and two having surgery as the primary treatment at this Center. One patient had posterior fusion without instrumentation, four had posterior fusion with instrumentation, and one had posterior instrumentation without fusion. Spinal problems can occur in arthrogryposis patients, are poorly controlled nonoperatively, and frequently require surgical treatment, especially if there is thoracic lordosis.

Adolescent↗
PubMed1997

Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome)--evidence for possible autosomal recessive inheritance.

We report a son and a daughter of a first cousin Pakistani marriage who both have osteogenesis imperfecta and the son in addition has arthrogryposis multiplex congenita. Bruck [(1897): Dtsch Med Wochenschr 23: 152-155] first reported the case of a boy who had multiple fractures and joint ankylosis, subsequently only one sibship with three affected cases and seven sporadic cases have been reported to our knowledge. On the basis of consanguinity this suggests that the association of osteogenesis imperfecta and arthrogryposis multiplex congenita is inherited in this family as an autosomal recessive condition with variable expression.

Arthrogryposis↗
PubMed2000

A new syndrome of optic nerve colobomas and renal abnormalities associated with arthrogryposis multiplex.

Renal-coloboma syndrome is a developmental disorder involving optic nerve colobomas and renal hypoplasia/insufficiency, which exhibits autosomal dominant inheritance and a highly variable phenotype (OMIM:120330). Mutation in the PAX2 gene was found to result in the renal-coloboma phenotype. We report on an Arab family with autosomal dominant inheritance of a syndrome characterized by a variable combination of optic nerve colobomas, renal abnormalities, vesicoureteral reflux, lax joints and arthrogryposis multiplex. Apart from the arthrogryposis multiplex which has not been described in the renal-coloboma syndrome, the features of the syndrome in this family are very similar to the renal-coloboma syndrome. However sequencing of all 12 axons of PAX2 gene revealed no mutation in this family. The disorder in this family is likely to represent a new syndrome with features overlapping with the renal-coloboma syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

Surgical management of arthrogryposis in the upper extremity.

Arthrogryposis multiplex congenita is a rare congenital disorder in which the extremities are affected with severe resistant musculoskeletal contractures. In the upper extremity, these deformities typically consist of internal rotational contractures of the shoulder, extension deformity of the elbow, flexion and ulnar deviation of the wrist, thumb-in-palm deformity, and digital interphalangeal joint flexion contractures occurring singularly or in combination. At the Houston Unit of the Shriners Hospital for Crippled Children, during the interval from 1962 to 1982, 25 patients underwent 56 operative procedures to correct upper-extremity deformities due to arthrogryposis multiplex congenita. Functional improvement was observed clinically and reported subjectively by the patients or their parents in 75% of the cases.

Arthrogryposis↗
PubMed1991

Hypermetabolism in arthrogryposis multiplex congenita.

Two patients who developed hypermetabolic reactions during anaesthesia and surgery and who were suffering from arthrogryposis multiplex congenita are reported and it is proposed that the reaction is distinct from malignant hyperthermia and independent of the anaesthetic agents used. The implications for anaesthetists involved in the management of patients with arthrogryposis multiplex congenita are discussed.

Anesthesia, General↗