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PubMed1994

A congenital abnormality of calves, suggestive of a new type of arthropod-borne virus infection.

About 1000 calves with a congenital disease were born in Kagoshima prefecture, Japan, between October 1990 and October 1991, the peaks of the epidemic being in March and July 1991. Of 85 abnormal calves examined pathologically and serologically, 70 appeared to have been suffering from a viral disease. Of these 70 animals, 17 had lesions bearing some resemblance to those of the diseases produced by Akabane, Chuzan, Aino, bluetongue and bovine viral diarrhoea-mucosal disease viruses-diseases known to occur in Kagoshima-but serum samples contained no antibodies to these viruses or to infectious bovine rhinotracheitis virus. This suggested the occurrence of a new type of viral infection in southern Japan. Six of the 17 calves were born dead and the others manifested clinical signs such as weakness, difficulty in sucking, inability to stand, vertigo, opisthotonus, staggering and weak eyesight or blindness. They were of small size and showed domed head, scoliosis, arthrogryposis, maxillary retraction, sunken eye, cataracts, and irregularities and defects of the teeth. At necropsy, almost all cases showed hydranencephaly, and many had cerebral defects and cerebellar hypoplasia or agenesis. Both cerebral and cerebellar lesions were seen in six cases, two of which showed a hypoplastic defect of the brain stem. Histopathological examination of the affected organs revealed gliosis, loss of cerebral parenchyma resulting from dilation of the ventricles, perivascular cuffing with round cells such as lymphocytes and plasma cells, proliferation of blood vessels, thick-walled blood vessels in the brain stem, dilation of mesencephalic aqueducts, cerebellar cortical dysplasia, decreased nerve cells in the ventral horn of the spinal cord, and myodysplasia of skeletal muscle.

Abnormalities, Multiple↗

PubMed1990

Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction.

An infant girl had the clinical and immunologic findings of congenital rubella syndrome but also had arthrogryposis multiplex and calcific epiphyseal stippling. Spastic quadriparesis developed, and both physical and behavioral development were slow. Increased spasticity of the legs at 5 1/2 years was related not to progressive rubella encephalomyelopathy but to spinal cord compression by abnormal cartilaginous tissue. The presence of a peroxisomal disorder was demonstrated by a greatly increased level of phytanic acid and slightly increased levels of hexacosanoate in serum and by reduced activity of peroxisomal dihydroxyacetone phosphate acyltransferase and a slightly increased ratio of cytosolic to peroxisomal catalase activity in cultured fibroblasts. A reduction in the number and size of peroxisomes was demonstrated in cultured fibroblasts, and a needle biopsy specimen of the liver also showed the peroxisomes to have a smaller diameter than usual. We recommend that any child with epiphyseal stippling be assessed for peroxisomal disease and that the potential for spinal cord compression by dysplastic bone or cartilage be recognized. The association of peroxisomal dysfunction with congenital rubella has not been described previously. The interaction between rubella virus infection and peroxisomal function may need further investigation.

Calcinosis↗

PubMed1996

Congenital disorders of the hand and upper extremity.

This article summarizes normal formation and growth of the upper limb as a basis for understanding malformation. Shoulder anomalies, including Sprengel's undescended scapula, clavicle pseudarthrosis, cleidocraniodystostosis, and Poland's syndrome, are presented. Classification and examples of limb malformations are discussed as well as neuromuscular disorders, such as obstetric brachial plexopathy, cerebral palsy, and arthrogryposis. The author hopes that this article provides a basic understanding of the evaluation necessary for appropriate counseling and referrals for treatment of the child with hand and upper extremity congenital deformities.

Arm↗

PubMed1999

Biochemistry of hemlock (Conium maculatum L.) alkaloids and their acute and chronic toxicity in livestock. A review.

The literature on Conium maculatum biochemistry and toxicology, dispersed in a large number of scientific publications, has been put together in this review. C. maculatum is a weed known almost worldwide by its toxicity to many domestic animals and to human beings. It is an Umbelliferae, characterized by long, hollow stems, reaching up to 2 m height at maturity, producing a large amount of lush foliage during its vegetative growth. Its flowers are white, grouped in umbels formed by numerous umbellules. It produces a large number of seeds that allow the plant to form thick stands in modified soils, sometimes encroaching on cultivated fields, to the extent of impeding the growth of any other vegetation inside the C. maculatum area of growth. Eight piperidinic alkaloids have been identified in this species. Two of them, gamma-coniceine and coniine are generally the most abundant and they account for most of the plant acute and chronic toxicity. These alkaloids are synthesized by the plant from eight acetate units from the metabolic pool, forming a polyketoacid which cyclises through an aminotransferase and forms gamma-coniceine as the parent alkaloid via reduction by a NADPH-dependent reductase. The acute toxicity is observed when animals ingest C. maculatum vegetative and flowering plants and seeds. In a short time the alkaloids produce a neuromuscular blockage conducive to death when the respiratory muscles are affected. The chronic toxicity affects only pregnant animals. When they are poisoned by C. maculatum during the fetuses organ formation period, the offspring is born with malformations, mainly palatoschisis and multiple congenital contractures (MCC; frequently described as arthrogryposis). Acute toxicity, if not lethal, may resolve in the spontaneous recovery of the affected animals provided further exposure to C. maculatum is avoided. It has been observed that poisoned animals tend to return to feed on this plant. Chronic toxicity is irreversible and although MCC can be surgically corrected in some cases, most of the malformed animals are lost. Since no specific antidote is available, prevention is the only way to deal with the production loses caused by this weed. Control with herbicides and grazing with less susceptible animals (such as sheep) have been suggested. C. maculatum alkaloids can be transferred to milk and to fowl muscle tissue through which the former can reach the human food chain. The losses produced by C. maculatum chronic toxicity may be largely underestimated, at least in some regions, because of the difficulty in associate malformations in offspring with the much earlier maternal poisoning.

Acute Disease↗

PubMed1999

Combined maternal and congenital myotonic dystrophy managed by a multidisciplinary team.

Myotonic dystrophy is a rare autosomal dominant degenerative neuromuscular and neuroendocrine disease. Pregnancy can aggravate the maternal disease. Obstetrical complications include stillbirth, premature labor, polyhydramnion, abnormal presentation, prolonged labor, increased operative delivery, postpartum hemorrhages and anesthetic accidents. If the fetus is affected severe neonatal morbidity and mortality with arthrogryposis and mental retardation is common. We present a case where the family chose continuation of pregnancy with a known diagnosis of maternal and severe fetal myotonic dystrophy. A multidisciplinary team was used in the management of pregnancy and counseling the patient.

Adult↗

PubMed1985

Congenital clasped thumb: a review of forty-three cases.

Over a 10-year period, 43 patients (75 hands) with congenital clasped thumb were seen in our institution. Three groups were identified: group I, 14 patients (24 hands) without contracture; group II, 14 patients (21 hands) with contractures of the palmar side; and group III, 15 patients (30 hands) with arthrogryposis multiplex congenita. Forty-two hands were treated with splinting alone and 16 hands with surgery. The remaining 17 hands were followed conservatively without splinting or surgery. The mean follow-up was 32 months. The results were evaluated by active abduction of the carpometacarpal joint and extension of metacarpophalangeal joint. All patients in group I showed good response to splinting, and the cause of the deformity appeared to be the predominance of the flexor muscles. In groups II and III, 10 patients (16 hands) who had severe deformity or no response to splinting were treated by release of the palmar soft tissues, skin grafts, and reconstruction of the extensors. Satisfactory results were obtained in 12 of 16 hands.

Adolescent↗

PubMed2000

Preferential infection of neuronal and astroglia cells by Akabane virus in primary cultures of fetal bovine brain.

Akabane virus is a member of the genus Bunyavirus; it is pathogenic for ruminants and transmitted by arthropod vectors. Infection of adult cattle and sheep causes a transient viremia without obvious clinical signs, while infection of pregnant animals often causes fetal abnormalities including hydranencephaly, poliomyelitis and arthrogryposis. Infectious virus or viral antigens is present in the brain, spinal cord and skeletal muscle of infected fetuses. To understand the interaction between Akabane virus and bovine brain cells, we investigated the viral tropism using primary cultures of fetal bovine brain. The cultured neuronal cells, astroglia cells and microglia cells were distinguished by cell type specific antisera. Akabane virus was found to infect neuronal cells and astroglia cells, which led to degenerative death. No microglia cells were found infected. In some brain cultures, we observed different sensitivities of the cells to two Akabane virus strains: an attenuated strain infected and spread more readily than wild type virus. This difference was not observed in a hamster fibroblast cell line. Both viral and host determinants might be involved in the different susceptibility of brain cells to Akabane virus infection.

Animals↗

PubMed1990

Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns.

The results of a survey of the birth prevalence of congenital anomalies among 27,472 consecutive newborn babies at a large maternity hospital in Tokyo are reported. There were 29 cases with trisomy-21; 5 cases with trisomy-13 syndrome; 5 with trisomy-18 syndrome; 2 with cri-du-chat syndrome; and one each with partial monosomy 4p, partial trisomy 5p, partial trisomy 6p, partial trisomy 9p, partial trisomy 9q, partial monosomy 10p, and partial monosomy 13q. Single cases of the following were observed: the Hallermann-Streiff syndrome, the Treacher-Collins syndrome, achondroplasia, arthrogryposis, the Beckwith-Wiedemann syndrome, the asplenia syndrome, the Klippel-Trenaunay-Weber syndrome, the Marfan syndrome, the Carpenter syndrome, the Goldenhar syndrome, and the Pierre Robin syndrome. The results of follow-ups to determine the life-prognosis of each patient with an autosomal aberration are reported.

Chromosome Aberrations↗

PubMed1992

Clinical variation within sibships in Fukuyama-type congenital muscular dystrophy.

A family in which three siblings were affected with severe cerebral malformations in association with ocular anomalies and muscle disease is reported. One sibling was diagnosed as having Fukuyama type congenital muscular dystrophy (FCMD) because he showed severe hypotonia with dystrophic findings on a muscle biopsy in addition to pachygyria on CT. At the age of 3 years, retinal detachment developed in both eyes. Another sibling exhibited at birth such characteristic features as pachygyria, cephalocele, hydrocephalus, retinal detachment in both eyes, elevated serum creatine kinase activity and arthrogryposis multiplex congenita. We consider these findings to be more consistent with Walker-Warburg syndrome (WWS) than with FCMD. Anencephaly found in the third sibling was regarded as WWS with extreme brain abnormality. The appearance of two syndromes (FCMD and WWS) in the three members of the same family suggests that these syndromes could be allelic with variable phenotypes.

Brain↗

PubMed1996

Diagnosis and management of tendon disorders in cattle.

Diagnosis and treatment of congenital and acquired tendon disorders in cattle are discussed. A brief discussion of tendon structure, anatomy, biomechanics, and healing is included. Congenital abnormalities presented include hyperextension deformities, flexural deformities, arthrogryposis, and spastic paresis. Acquired abnormalities discussed include tendon displacement, tendinitis, tendon disruption, and tenosynovitis. Antibiotic selection for musculoskeletal infections is briefly discussed.

Animals↗

PubMed1994

Akabane virus.

Akabane virus, an arthropod-borne Bunyavirus, is the major cause of epizootics of congenital malformations in ruminants in Australia, Japan, Korea, and Israel, and is suspected to be a cause of sporadic outbreaks elsewhere. Blood-sucking insects, such as biting midges, transmit the virus horizontally to vertebrates. Climatic factors influence the seasonal activity and geographic range of the vector population and, therefore, occurrence of related disease. Inoculated ruminants seroconvert rapidly after a short subclinical viremia. Infection is of consequence only if ruminants are pregnant and not protected by adequate specific neutralizing antibodies. In naive pregnant animals, virus may spread hematogenously to replicate and persist in trophoblastic cells of placental cotyledons and subsequently invade the fetus. A distinct tropism for immature rapidly dividing cells of the fetal central nervous system and skeletal muscle results in direct virus-induced necrotizing encephalomyelitis and polymyositis. If fetuses survive, such injury may manifest as arthrogryposis, hydranencephaly, porencephaly, microencephaly, hydrocephalus, or encephalomyelitis at term. The earlier in gestation that fetal infection occurs, the more severe the lesions, reflecting the large population of vulnerable cells and lack of fetal immunocompetency at earlier stages of pregnancy. Injury during the period of critical cell migration and differentiation in organogenesis may substantially disrupt structural development in target organs. Late gestational infections cause nonsuppurative inflammation in the brain and spinal cord, premature birth, or fetal death with stillbirth or abortion. Affected neonates are nonviable. Control is by vaccination but is not always justified economically. Akabane viral infections must be differentiated from infections with other teratogenic viruses (including related Bunyaviruses), inherited conditions, and maternal intoxications. Diagnosis is made by serology and viral isolation.

Animals↗

PubMed1993

Quinolizidine and piperidine alkaloid teratogens from poisonous plants and their mechanism of action in animals.

Quinolizidine and piperidine alkaloid teratogens from Lupinus, Conium, and Nicotiana genera have been identified as causes of birth defects in livestock induced by poisonous plants. Many defects now known to be related to poisonous plant ingestion were once thought to have a genetic origin. This supposition delayed diagnosis, reporting, and understanding of such birth defects, because breeders and producers feared the news would make it difficult to sell breeding stock. Defects caused by quinolizidine and piperidine teratogens include cleft palate and contracture-type skeletal defects such as arthrogryposis, scoliosis, torticollis, and kyphosis. Teratogens have been identified, differences in susceptibility to teratogenic compounds among livestock species have been elucidated, periods of gestation when specific types of birth defects occur have been determined, and information about mechanism of action has been developed.

Alkaloids↗

PubMed1987

[10 congenital trigger fingers. Apropos of a case report].

Ten congenital triggers fingers have been treated on a 3 years old girl after correction of congenital bilateral club feet. Such a case, without any other congenital malformation seems to be unique in the French literature and only found twice in the English one. This child in spite of a normal growth and good psychomotor development, presents an unusual face, with a mouth a little bit too small, but her karyotype is normal. No trismus and no microstomia were found to enable this case to be classified in a specific syndrome. The right diagnosis may be a non evolutive arthrogryposis of the extremities. Dividing the ten proximal pulleys (A1) let 10 voluminous nodules pass through and allowed full range of motion in nine out of ten fingers. A remaining flexion deformity of the proximal interphalangeal joint needed an anterior arthrolysis, the final result was good.

Abnormalities, Multiple↗

PubMed1996

Pena-Shokeir phenotype associated with bilateral opercular polymicrogyria.

Autopsy examination of an infant with the Pena-Shokeir phenotype revealed bilateral opercular polymicrogyria associated with neuronal loss and ferrugination in the basal ganglia, thalamus, brainstem, and spinal anterior horns. Bilateral opercular polymicrogyria previously has been linked to the developmental form of Foix-Chavany-Marie syndrome, or faciopharyngoglossomasticatory diplegia. In the Pena-Shokeir phenotype, bilateral opercular polymicrogyria may contribute to deficits in swallowing and facial movements. The pattern of brain and spinal cord injury in this case supports previous suggestions that the Pena-Shokeir phenotype (and certain other forms of arthrogryposis multiplex congenita) may be caused by hypoxic-ischemic injury to the developing central nervous system.

Abnormalities, Multiple↗

PubMed1998

Lissencephaly associated with congenital hypomyelinating and axonal neuropathy.

The authors describe an 11-year-old male with severe mental retardation, hypotonia, and arthrogryposis, with both type I lissencephaly and a congenital peripheral neuropathy, probably hypomyelinating with axonal involvement. To the best of the authors' knowledge, this is the first report involving the co-occurrence of these two developmental disorders. A viral, metabolic, or nutritional insult acting throughout the period of migration and myelination or a contiguous gene linkage are possible explanations for this disorder.

Axons↗

PubMed2002

Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

Previously, we reported results indicating that nebulin was the gene causing the typical form of autosomal recessive nemaline (rod) myopathy. Here we describe the identification of mutations in the nebulin gene in seven offspring of five families affected by the severe congenital form of nemaline myopathy. One pregnancy was terminated on the grounds of foetal abnormality, while six affected infants died at ages ranging from the first day of life to 19 months. Only three of the six neonates were able to establish spontaneous respiration. Three had arthrogryposis. In three of the five families, the mutations were located in exon 184. These mutations are predicted to cause absence of the C-terminal part of nebulin.

Biopsy↗

PubMed2006

Spectrum of features in pterygium syndrome.

Pterygium syndrome is a complex and rare congenital deformity that consists of contractures involving multiple flexural surfaces and associated craniofacial anomalies. It often has associated conditions, including anomalies of the cardiovascular, respiratory, gastrointestinal and genitourinary systems. It may present in different forms, including multiple pterygium syndrome of Escobar, lethal multiple pterygium syndrome, popliteal pterygium syndrome, lethal popliteal syndrome (Bartsocas-Papas syndrome) and arthrogryposis multiplex congenita. The clinical presentation, multidisciplinary management and the long-term outcome in three patients with this condition are presented.

Abnormalities, Multiple↗

PubMed2002

[The posterior interosseous flap in the child: 13 case reports].

INTRODUCTION: The posterior interosseous flap is used to cover skin defects in the hand, wrist, forearm and elbow. It is currently, commonly indicated for adults, but it may be used for child too. MATERIALS AND METHOD: Twelve children underwent a posterior interosseus flap (13 flaps). Their ages ranged from 3 to 17.5 years with a mean of 6.5 years. There were seven boys and five girls. The flaps were used to treat different type of lesions: the most frequent etiology was burn injuries or sequels (nine patients), there were one extravasation of anticarcinogenic agent, one syndactyly and one arthrogryposis. The localizations of the skin loss were the first web space (six patients), the dorsal hand (five patients) and the elbow (two patients). RESULTS: The average of the operation was eighty minutes. The survival of the flaps was excellent. Only one flap had a partial necrosis. CONCLUSION: Posterior interosseus flap may be used in coverage of children's limb. The diameter of the vessels is not a difficulty in the flap dissection. As the adults, the viability of the flap is excellent and allows to cover most of the skin defect of the dorsal hand or elbow.

Adolescent↗