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PubMedDate not supplied

Teratogenicity of Aino virus in the chick embryo.

Aino virus (JaNAr 28 strain), a possible agent of a congenital anomaly of calves, was inoculated into the yolk sac of chick embryos at a dose of 10(2), 10(3), 10(4) or 10(5) TCID50 0.2 ml-1 at four, six or eight days of incubation. At 21 days of incubation all the unhatched embryos or hatched chickens in the experimental and control groups were sacrificed for pathological examination. The incidence of hydranencephaly, cerebellar hypoplasia or agenesis and arthrogryposis or scoliosis was highest (85 per cent in the chicks inoculated with 10(3) TCID50 0.2 ml-1 at eight days of incubation. The lesions were very similar to those found in congenital abnormalities in calves suspected of a natural infection with Aino virus.

Animals↗
PubMed1979

Pectoralis major transplantation to restore elbow flexion to the paralytic limb.

In four patients, two with brachial plexus palsy and two with arthrogryposis, the entire pectoralis major muscle was transplanted to act as an elbow flexor, rotating it on its neurovascular pedicles and attaching the tendon to the acromion and the muscle origin to the tuberosity of the radius. Excellent motion and power was restored in three patients. One procedure failed due to fibrofatty degeneration of the transplanted muscle.

Arm↗
PubMed1987

Proximal row carpectomy in arthrogrypotic wrist deformity.

We studied five patients who had proximal row carpectomy for the correction of wrist deformity secondary to arthrogryposis multiplex congenita. Three patients subsequently had wrist arthrodesis for recurrent or persistent deformity. We analyzed those factors we thought might influence the final result, including age at time of surgery, adequacy of correction of deformity, position of immobilization, and duration of immobilization. We concluded that despite attention to the details of intraoperative correction of deformity and postoperative immobilization, the results are unpredictable.

Arthrodesis↗
PubMed1979

A case of Ullrich's disease (Kongenitale, Atonisch-Sklerotische Muskeldystrophie).

An unique myopathy described by Ullrich in 1930 was reported in a 4-year-old Japanese boy. Major clinical findings included proximal joint contracture, muscle hypotonia, prominent calcaneus, high-arched palate, and normal intelli gence. Muscle biopsy showed rather small muscle fivers with variations in size and proliferation of connective tissue. A review of 15 cases in the literature revealed this type of myopathy as a distinctive entity to be classified as a myopathic arthrogryposis multiplex congenita, rather than in the group of muscular dystrophies.

Arthrogryposis↗
PubMed1998

Microlissencephaly.

An inbred Arab family with three neonates affected by microlissencephaly syndrome is reported. Brain magnetic resonance imaging in the index case revealed very thin brain mantle with agyria-pachygyria, agenesis of the corpus callosum, and hypoplasia of the brainstem and cerebellum. All three neonates had microcephaly, arthrogryposis multiplex congenita, and micropenis. The presence of three affected newborn infants in a consanguineous family suggests an autosomal-recessive mode of inheritance of this syndrome. The spectrum of microlissencephaly syndrome is reviewed.

Abnormalities, Multiple↗
PubMed2004

Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function.

We have identified a new mutation in the FBP (fructose 1,6-bisphosphate) aldolase A gene in a child with suspected haemolytic anaemia associated with myopathic symptoms at birth and with a subsequent diagnosis of arthrogryposis multiplex congenita and pituitary ectopia. Sequence analysis of the whole gene, also performed on the patient's full-length cDNA, revealed only a Gly346-->Ser substitution in the heterozygous state. We expressed in a bacterial system the new aldolase A Gly346-->Ser mutant, and the Glu206-->Lys mutant identified by others, in a patient with an aldolase A deficit. Analysis of their functional profiles showed that the Gly346Ser mutant had the same Km as the wild-type enzyme, but a 4-fold lower kcat. The Glu206-->Lys mutant had a Km approx. 2-fold higher than that of both the Gly346-->Ser mutant and the wild-type enzyme, and a kcat value 40% less than the wild-type. The Gly346-->Ser and wild-type enzymes had the same Tm (melting temperature), which was approx. 6-7 degrees C higher than that of the Glu206-->Lys enzyme. An extensive molecular graphic analysis of the mutated enzymes, using human and rabbit aldolase A crystallographic structures, suggests that the Glu206-->Lys mutation destabilizes the aldolase A tetramer at the subunit interface, and highlights the fact that the glycine-to-serine substitution at position 346 limits the flexibility of the C-terminal region. These results also provide the first evidence that Gly346 is crucial for the correct conformation and function of aldolase A, because it governs the entry/release of the substrates into/from the enzyme cleft, and/or allows important C-terminal residues to approach the active site.

Amino Acid Substitution↗
PubMed2000

Prenatal diagnosis of the cerebro-oculo-facio-skeletal (COFS) syndrome.

BACKGROUND: The Cerebro-Ocular-Facio-Skeletal (COFS) syndrome is an autosomal recessive condition characterized by neurogenic arthrogryposis, severe facial anomalies and brain maldevelopment. We describe here the first case of prenatal diagnosis of this syndrome in a 21-week fetus. CASE: The woman was referred to our unit on suspicion of fetal microphthalmia. On trans-abdominal ultrasound, severe bilateral microphthalmia was confirmed. Micrognathia, multiple joint contractures and rockerbottom feet were also detected. On the basis of these findings, the diagnosis of COFS syndrome was hypothesized. After termination of pregnancy, necropsy confirmed all prenatal findings. Histology showed severe architectural derangement of the eye and brain together with cerebellar anomalies compatible with the diagnosis of COFS syndrome. CONCLUSIONS: To the best of our knowledge, this represents the first case of prenatal diagnosis of COFS syndrome. This case demonstrates the feasibility of such a diagnosis by ultrasound and identifies the malformations already present and detectable at mid-gestation.

Adult↗
PubMedDate not supplied

Treatment of severe and neglected clubfoot with a double zigzag incision: outcome of 21 feet in 15 patients followed up between 1 and 5 years.

Patients presenting late for treatment of clubfoot deformity are still common in many parts of the world. These feet are often rigid and severely deformed. Surgical correction is the prevailing option to attain a plantigrade foot, and the extent of correction required predisposes to wound-healing problems. We present the results of treatment of 15 patients (21 feet) with severe, untreated congenital talipes equino varus, who underwent operations using a double zigzag incision as a single-stage procedure. These patients ranged in age from 6 months to 4 years and presented late, having received no treatment or inadequate treatment since birth. The desired end point of the study was a fully corrected foot with a wound that would heal primarily without complications. The etiology was isolated congenital talipes equino varus in 11 patients and arthrogryposis multiplex congenita in 4 patients. Eleven patients were boys and 4 were girls; 6 patients underwent bilateral procedures. The patients were graded preoperatively and postoperatively using the Dimeglio classification, with 10 feet classified preoperatively as grade 3 and 11 graded as grade 4. Desired correction was achieved in all feet, and all wounds healed uneventfully with no complications. This single-stage technique is very safe and cost-effective and is an easy alternative to standard techniques for dealing with late-presenting untreated severe clubfoot deformities.

Arthrogryposis↗
PubMed2001

Congenital cervical spinal atrophy: an intrauterine hypoxic insult.

We present two patients with congenital cervical spinal atrophy who were born at 37 and 33 weeks of gestation. Both patients were unrelated and had no family history of neuromuscular diseases. They presented at birth with arthrogryposis multiplex and symmetrical severe muscle weakness and wasting confined to the upper extremities. There was no sensory or bulbar symptom. Electromyography showed polyphasic and fast-firing units in the proximal muscles of the upper extremities. With the evidence of chronic denervation and re-innervation, we speculate that this static condition is most likely due to circulatory insufficiency causing anterior horn cell ischemia during the latter part of the first trimester.

Anterior Horn Cells↗
PubMed1999

Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1.

We present the clinical and histopathological features and the diagnostic difficulties encountered in five children affected by a motor neuron disorder other than spinal muscular atrophy. Investigations performed suggested the diagnosis of ponto-cerebellar hypoplasia type 1 (PCH-1). Severe respiratory difficulty was present at birth in two of these children; hypotonia, arthrogryposis, microcephaly and nystagmus were present in all. Early and progressive bulbar involvement with swallowing difficulties and stridor was also a common feature in these infants. Severe cognitive delay was invariably present. Brain magnetic resonance imaging showed ponto-cerebellar hypoplasia in four children while striking atrophy of the cerebellar vermis and cerebellar hemispheres were present in the fifth child. Electrophysiological and pathological investigations of proximal muscles performed at presentation in all these children were not conclusive, while the post-mortem studies, or the study of distal muscles during life, showed a clear neurogenic picture. Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that ponto-cerebellar hypoplasia type 1 is a different entity from typical proximal spinal muscular atrophy.

Abnormalities, Multiple↗
PubMed1997

Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients.

In 1926, Foix, Chavany and Marie described an acquired syndrome of fasciopharyngoglossomasticatory diplegia resulting from bilateral infarction of the anterior operculum. Clinical features consisted of facial diplegia, dysarthria, pseudobulbar palsy, mild to severe mental retardation, and seizures. A developmental form, similar in presentation in adults with MRI findings consisting of bilateral perisylvian cortical malformation consistent with polymicrogyria involving the sylvian fissure and opercular cortex, has been recognized; but few pediatric cases of congenital bilateral perisylvian syndrome (CBPS) have been reported. Over the past four years, we have encountered 12 cases of CBPS presenting in childhood. Age ranges were from 1 week to 11 years with a median of 2.25 years; six were less than two years of age. Seven were male and five female. Ten had bilateral perisylvian polymicrogyria on MRI; two had unilateral perisylvian schizencephaly with contralateral perisylvian polymicrogyria. Clinical manifestations included developmental delay in 7; poor palatal function in 5; hypotonia in 4; arthrogryposis in 4; hemiparesis in 3; apnea in 3; paraparesis in 2; micrognathia in 2; pectus excavatum in 2; quadriparesis in 1; and hearing loss in 1. Seizures occurred in seven (58%) and consisted of infantile spasms (n = 1), generalized tonic-clonic (n = 1), complex partial (n = 2), partial motor (n = 2; 1 with secondary generalization), and febrile convulsions (n = 1). CBPS has different manifestations in the pediatric population than in adults. CBPS is more common than previously thought, is recognizable by MRI and should be suspected clinically in any infant or child presenting with oromotor dysfunction/pseudobulbar signs and developmental delay, especially if there are associated congenital malformations. Epilepsy is not a constant feature in the pediatric presentation and is variable in type and severity.

Abnormalities, Multiple↗
PubMed1996

Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.

With the evidence of deletions in the region responsible for autosomal recessive spinal muscular atrophy (SMA) on chromosome 5, it is now possible to further clarify the clinical and diagnostic findings in proximal SMA. Homozygous deletions of the survival motor neuron (SMN) gene can be detected in about 95% of patients with early onset SMA. In a series of more than 200 patients, we tested 31 patients with atypical features of SMA who fulfilled at least one exclusion criterion according to the diagnostic criteria of the International SMA Consortium for the presence of SMN gene deletions. The patients were subdivided into two groups: 1. Seven index patients being not deleted for the SMN gene who belonged to a well-defined SMA plus variant that has already been shown to be unlinked with chromosome 5q markers: diaphragmatic SMA, SMA plus olivopontocerebellar hypoplasia, SMA with congenital arthrogryposis and bone fractures. 2. Twenty-four patients with clinical signs of SMA and neurogenic findings in EMG/muscle biopsy who had unusual features or other organ involvement. In order to structure this heterogeneous group, each patient was assigned to a subgroup according to the leading atypical feature. In 5 out of 8 unrelated patients with a history of preterm birth and/or perinatal asphyxia leading to a picture of severe SMA in combination with respiratory distress and/or cerebral palsy, no deletion of the SMN gene could be detected. There were five unrelated patients with extended central nervous system involvement (cerebral atrophy, EEG abnormalities, pyramidal tract signs, evidence of cerebellar involvement). Most of these patients (4/5) proved to belong to SMA 5q on the basis of SMN gene deletion findings. The same applied to a group of three patients with classical SMA in association with congenital malformations (mainly heart defect). A fourth group of three patients was characterized mainly by an unusual improvement of the condition; in these patients no SMN gene deletions were present. In three index patients a more complex syndrome of the CNS and other organs was suggested, but the detection of SMN gene deletions in two of them made a coincidence of features more likely. In addition, SMN gene deletions were found in two patients with evidence of congenital fibre type dysproportion in one and extremely raised CK activity ( > 10fold) in the other. While the confirmation of SMN gene deletions is very useful in cases with diagnostic doubts, caution is required when offering prenatal prediction with regard to SMA 5q in families with atypical features. There is strong evidence that there are clinical entities resembling SMA which most likely have another pathogenetic background.

Arthrogryposis↗
PubMed1984

[Connatal ptosis: a symptom of the syndrome of multiple pterygium and arthrogryposes].

Report on a 56-year-old female exhibiting features of the multiple pterygium syndrome, e.g., puffiness and ptosis of the upper lids, hypertelorism, pterygium of the metacarpophalangeal joints, hypomobility of joints, short stature, obviously inherited as an autosomal recessive trait. In differential diagnosis distal arthrogryposis has to be considered. It is not known whether the intravitreous hemorrhage from which this patient suffered is associated with the disorder.

Arthrogryposis↗
PubMed1997

The fate of undescended testes in patients with gastroschisis.

Cryptorchidism is frequently associated with gastroschisis, yet little is published on its management in such circumstances. In a review of 10 consecutive boys with gastroschisis since 1980, 4 had undescended testes. Gestational age and birth weight did not differ from the 6 boys with normally descended testes. The first two patients had associated arthrogryposis multiplex congenita. The first underwent bilateral orchidopexy at 9 years of age for inguinal testes. In the second patient, the left testis was intraabdominal at the level of the sigmoid colon at birth; at 3 months of age, when a left inguinal hernia repair was required, left groin exploration revealed the testis at the internal ring and orchidopexy was performed successfully. In the third patient the left spermatic vessels were divided at the time of gastroschisis repair and the testis anchored in the prebubic area. The second-stage orchidopexy was performed at 16 months. In the last patient the intraabdominal testis could be placed in a scrotal pouch without mobilisation or division of the vessels. From our experience and a review of the literature we conclude that: 1) undescended testes are frequently associated with gastroschisis; 2) mechanical factors rather than prematurity are likely responsible for this association; 3) if the testis easily reaches the scrotum, orchidopexy can be done safely at the time of gastroschisis repair; 4) if the testis does not reach easily and appears to have a gubernaculum, it may be preferable to leave it in place since spontaneous descent can occur.

Abdominal Muscles↗
PubMedDate not supplied

Infant with high arched palate, bell-shaped chest, joint contractures, and intrauterine fractures.

A case is presented of a female newborn infant delivered with an Apgar Score of 1, who could not be resuscitated. There was a high arched palate, bell-shaped chest, contractures of writes inflexion, ankles and knees in extension, and intrauterine fractures. Clinical discussion led to a diagnosis of arthrogryposis secondary to fetal akinesia syndrome caused by nemaline myopathy. Pathology and pathologic discussion confirmed this diagnosis.

Abnormalities, Multiple↗
PubMed2003

Nonsyndromic paucity of interlobular bile ducts: report of 10 patients.

OBJECTIVES: Only a few reports of nonsyndromic paucity of interlobular bile ducts (NS-PILBD) have been published. The authors' aim was to outline the clinical and laboratory profile of patients with NS-PILBD diagnosed at a tertiary referral center. METHODS: The authors reviewed all the reports of pediatric liver biopsies performed between 1991 and 2000 at their institution. Upon diagnosis of NS-PILBD, patients' records were examined for clinical, laboratory, and histologic data, and liver biopsy specimens were re-evaluated. RESULTS: Three hundred biopsies were performed in children during the study period, of which 64 were in infants younger than 1 year. NS-PILBD was diagnosed in 10 of 64 (16%) biopsy specimens. Mean age at presentation was 10 days (range, 1 day-6 weeks), and mean follow-up was 4.5 years (range, 1-9 years). An underlying condition was identified in 70% of children with NS-PILBD: namely congenital cytomegalovirus (n = 2), progressive familial intrahepatic cholestasis (PFIC, n = 2), mitochondrial DNA depletion (n = 1), Niemann-Pick type C (n = 1), and arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC syndrome; n = 1). All children presented with jaundice. Four children had initially acholic stools. At their last follow-up visit, failure to thrive was present in five children, and cholestasis in six children. Mortality was noted only in children with metabolic diseases (n = 2). CONCLUSIONS: In the study, NS-PILBD was common in young children undergoing liver biopsy. Although NS-PILBD is nonspecific, a wide survey for inborn errors of metabolism should be included in the diagnostic work-up of NS-PILBD. In the authors' center, the association of certain metabolic diseases with NS-PILBD carries a grave prognosis.

Arthrogryposis↗
PubMed2000

Raine dysplasia: a Brazilian case with a mild radiological involvement.

We report a preterm male infant, the first child of a young consanguineous couple, whose physical examination revealed craniofacial disproportion with microcephaly, wide fontanelles, exophthalmos, low nasal root and hypoplastic nose, long philtrum, small mouth, high arched and narrow palate, micrognathia, dysplastic, low-set and rounded ears, short neck and, arthrogryposis. Postmortem findings included hypoplastic lungs. Radiological examinations showed mild and localized increased of bone density in the cranial vault and skull base and facial bones and undermodelled in the long bones. The above findings are characteristics of Raine dysplasia but the case reported here presents a mild bone involvement with only a localized bone sclerosis and absence of prenatal fractures. We discuss the possibility that this case represents an allelic mutation of the Raine gene. The consanguinity of the parents reinforces the hypothesis of autosomal recessive inheritance for this entity.

Abnormalities, Multiple↗