Cases reported "Scoliosis"

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1/868. Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother.

    A male patient with aphallia, anal stenosis, tetralogy of fallot, multiple vertebral anomalies including sacral agenesis and central nervous system (CNS) malformations was born after a pregnancy complicated by poorly controlled maternal diabetes. Aphallia is an extremely rare abnormality and can be part of the urorectal septum malformation sequence (URSMS). While aphallia has not been reported in infants of diabetic mothers, urogenital malformations are known to occur with increased frequency. Two female products of pregnancies complicated by diabetes presented with multiple malformations including anal atresia and recto-vaginal fistula consistent with the diagnosis of URSMS. The three patients share CNS, cardiac, and vertebral anomalies, abnormalities secondary to abnormal blastogenesis and characteristic of diabetic embryopathy. URSMS is also caused by abnormal blastogenesis. Therefore, this particular malformation should be viewed in the context of the multiple blastogenetic abnormalities in the cases reported here. The overlap of findings of URSMS in our cases with other abnormalities of blastogenesis, such as VATER association or sacral agenesis is not surprising, as these associations are known to lack clear diagnostic boundaries. ( info)

2/868. Shortening of a unit rod protruding into the hip joint: case report and description of a surgical technique.

    A unit rod is a well-accepted method of posterior spinal instrumentation in patients with cerebral palsy (CP). Several types of complications after the use of a unit rod were reported, including penetration through the medial wall of the pelvis. A patient who underwent anterior and posterior spinal fusion with unit-rod instrumentation was found to have penetration of the unit rod into a dysplastic hip joint. The pelvic limb of the rod was shortened with a burr through an anterolateral approach to the iliac bone. This procedure was associated with a lower blood loss than was previously reported for revisions of unit rods. There was no need for hardware removal and therefore no loss of correction. The unit rod may be shortened before surgery to prevent this problem. The described procedure is a simple way of correcting penetration of a unit-rod limb into the hip joint. ( info)

3/868. Unusually mild course of beta-glucuronidase deficiency in two brothers (mucopolysaccharidosis vii).

    Two brothers with oligosymptomatic mucopolysaccharidosis vii were observed from age 11 8/12 to 16 years, and 15 1/2 to 19 years, respectively. Asymptomatic thoracic kyphosis and mild scoliosis were the prominent clinical features. Herniae, hepatosplenomegaly, corneal clouding and shortness of stature were absent. Both had Alder type granulations in polymorphonuclear leukocytes and to a lesser degree in monocytes. Ultrastructural analysis of blood leukocytes revealed polymorphous inclusions of probably more than one class of organic substances. Radiological signs were mild, confined to the spine and consisted of irregularities of upper and lower vertebral plates, of vertebral flattening and some osteophytic changes. Both patients excreted excessive amounts of acid mucopolysaccharides in urine and also globoside. Cultured skin fibroblasts of both patients contained metachromatic granules, had only approx. 10% of normal beta-glucuronidase activity and degraded sulfated mucopolysaccharides at a slower than normal rate. Sera of the patients had none or minimal beta-glucuronidase activity, the mother's serum had subnormal and the father's serum low-normal activity. The older brother is the oldest known case of mucopolysaccharidosis vii. As this hereditary disorder may take a remarkably mild clinical course, beta-glucuronidase-deficient juveniles may exist undetected in the general population. ( info)

4/868. Pediatric syringomyelia with chiari malformation: its clinical characteristics and surgical outcomes.

    BACKGROUND: Most reports regarding pediatric syringomyelia have focused not only on Chiari malformation, but also on spinal dysraphism. However, the clinical characteristics of syringomyelia with spinal dysraphism are quite different from those of syringomyelia due to Chiari Type I malformation. The objectives of this study were to identify clinical characteristics of pediatric syringomyelia and to determine whether surgery prevents or corrects the scoliosis associated with syringomyelia. methods: We reviewed the records of 16 pediatric patients with syringomyelia and Chiari Type I malformation. The patients' ages ranged from 3 to 15 years, with mean age of 9.8 years. None of the patients had spinal dysraphism. RESULTS: Nystagmus was observed in 2 of the 16 patients, motor weakness in 8 patients, sensory disturbance in 10 patients, and scoliosis in 13 patients. As the initial surgical procedure, foramen magnum decompression (FMD) was performed in seven patients and syringo-subarachnoid (S-S) shunting in nine patients. The motor function improved in 7 of the 8 affected patients, and the sensory disturbance improved in 9 of the 10 affected patients. The magnetic resonance images obtained after the surgery revealed marked decrease of the syrinx size in all patients. Of the 13 patients with scoliosis, 5 showed improvement, 5 stabilization, and 3 deterioration. CONCLUSIONS: Compared with adolescent and adult syringomyelia, pediatric syringomyelia shows a much lower incidence of sensory disturbance and pain, but quite a high incidence of scoliosis. Surgery is effective in improving or stabilizing scoliosis in these patients. ( info)

5/868. Ischio-spinal dysostosis: a previously unrecognised combination of malformations.

    BACKGROUND: Ischial hypoplasia is an extremely rare malformation, both as an isolated anomaly and as a syndromic constituent. OBJECTIVE: To elucidate the clinical and radiological characteristics in five patients with the combination of ischial hypoplasia and spinal malformations. MATERIALS AND methods: The clinical records and radiographs of two females and three males, ranging in age from 3 months to 38 years, were evaluated. RESULTS: Ossification defects of the ischial rami were symmetrical and total in four patients, whereas the right ischial ramus was partly ossified in the other patient. All patients possessed multiple segmental defects of the spine, with rib anomalies of varying severity. One patient characteristically showed multiple rib gaps, resulting in respiratory distress. Severe anomalies of the cervical spine were evident in two patients. Four patients exhibited lumbosacral hypoplasia, which ultimately led to cauda equina syndrome in three older patients. One patient had mild facial dysmorphism and another had a diversity of anomalies, including ichthyosiform skin changes. Four patients were sporadic cases, whereas the other patient was born to consanguineous parents. CONCLUSIONS: The combination of anomalies in these patients constitutes a recognisable pattern of malformations but may represent a heterogeneous group of disorders. ( info)

6/868. Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester.

    Spondylocostal dysostosis is a congenital disorder characterized by multiple malformations of the vertebrae and ribs. We describe the sonographic features of an affected fetus at 12 and 14 weeks of gestation. The fetus had thoracic scoliosis, multiple vertebral and rib malformations and a grossly dilated stomach that had herniated into the chest through a left-sided diaphragmatic hernia. The stomach spanned the whole length of the fetal trunk. ( info)

7/868. Labor analgesia with paravertebral lumbar sympathetic block.

    BACKGROUND AND OBJECTIVES: Provision of labor analgesia continues to be a challenge for parturients with spine pathology or history of back surgery. methods: We report on the use of paravertebral lumbar sympathetic block for first stage labor analgesia in two parturients with spine pathology. ( info)

8/868. The importance of an intact abdominal musculature mechanism in maintaining spinal sagittal balance. Case illustration in prune-belly syndrome.

    STUDY DESIGN: A rare case of thoracic hypokyphotic deformity secondary to prune-belly syndrome is presented. OBJECTIVES: To discuss the role of an intact abdominal musculature mechanism in maintaining spinal sagittal balance, and to present a case illustration of prune-belly syndrome. SUMMARY OF BACKGROUND DATA: There has been an ongoing debate concerning the integrity of the abdominal musculature unit in maintaining spinal support and stability. It is now believed that intra-abdominal pressure hitherto generated plays an important role in the stabilization of the spine. Congenital aplasia of the abdominal musculature, termed prune-belly syndrome, might therefore result in the loss of spinal function and stability. The literature also is reviewed for the incidence of spinal deformities related to this condition. methods: A unique case of prune-belly syndrome in a 33-year-old man with congenital aplasia of the abdominal musculature is presented. RESULTS: The patient exhibited loss of the spinal sagittal balance, with resultant development of a thoracic hypokyphotic deformity and thoracolumbar scoliosis. CONCLUSIONS: scoliosis appears to be the most commonly reported spinal deformity. Unequal compressive forces on the vertebral endplates may be the proposed mechanism for the spinal deformities. Compensatory lumbar paraspinal overactivity resulting from the inability to generate normal intra-abdominal pressures because of a deficient abdominal wall musculature mechanism seems to be the plausible explanation for the observed thoracic hypokyphatic deformity. ( info)

9/868. A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy.

    Rud syndrome formerly was considered as a genetically heterogeneous but distinct clinical entity with the manifestations of ichtyosis, hypogonadism, small stature, mental retardation, epilepsy and, infrequently, retinitis pigmentosa. The existence of such a syndrome has recently been dismissed based on a new understanding of the ichthyoses. We report on the clinical history of a 14-year-old boy with congenital ichthyosis, small stature, hypogonadism, facial dysmorphism, nystagmus, kypho-scoliosis and myogenic dystrophy. He was diagnosed as Rud syndrome but developed neither seizures nor mental retardation. However a cousin was mentally retarded. The ichthyosis was familial as five relatives had ichthyosis but no other features of Rud syndrome. The patient had a deletion of the steroid-sulfatase gene. He had neither chondrodysplasia punctata, nor kallmann syndrome, two conditions which are part of the contiguous gene syndrome of the Xp22.3 region. Most case reports previously reported as Rud syndrome can now be reassigned under a contemporary ichthyosis classification that does not include Rud syndrome as a distinct entity. This case was clearly distinct from refsum disease, sjogren-larsson syndrome and any of the other ichthyosis disorders that have been suggested as a replacement for Rud syndrome. Thus the case reported here appears distinct from any previously described, currently recognized syndrome. ( info)

10/868. Jarcho-Levin syndrome: report on a long-term follow-up of an untreated patient.

    Jarcho-Levin syndrome is a genetically transmitted rare entity characterized by multiple vertebral and rib anomalies. The multilevel skeletal involvement causes short stature, neck and thoracic cage deformities, and restrictive lung disease that is usually the cause of early death. The authors describe a 33-year follow-up of a patient with this syndrome who represents, to their best knowledge, the longest survival of a patient with this entity. ( info)
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