Cases reported "Syndrome"

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1/903. MR and CT imaging in the Dyke-Davidoff-Masson syndrome. Report of three cases and contribution to pathogenesis and differential diagnosis.

    Cerebral hemiatrophy or Dyke-Davidoff-Masson syndrome is a condition characterized by seizures, facial asymmetry, contralateral hemiplegia or hemiparesis, and mental retardation. These findings are due to cerebral injury that may occur early in life or in utero. The radiological features are unilateral loss of cerebral volume and associated compensatory bone alterations in the calvarium, like thickening, hyperpneumatization of the paranasal sinuses and mastoid cells and elevation of the petrous ridge. The authors describe three cases. Classical findings of the syndrome are present in variable degrees according to the extent of the brain injury. Pathogenesis is commented.
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2/903. prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery.

    A fetus with bilateral radial aplasia was identified on routine ultrasound. The diagnosis of thrombocytopenia absent radius (TAR) syndrome was confirmed with cordocentesis. The differential diagnosis of radial aplasia and prenatal tests available to assist with management are discussed. cordocentesis offered useful information in the management of this case for both diagnosis and in deciding the route of delivery. We believe our case represents the first prenatal diagnosis of TAR syndrome in which vaginal delivery of a liveborn infant was intentionally allowed. Caesarean delivery may not be necessary for all fetuses diagnosed with TAR syndrome.
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3/903. Progressive ponto-bulbar palsy with deafness. A clinico-pathological study.

    Progressive ponto-bulbar palsy with deafness is a rare disease. It seems to be an abiotrophic process with autosomal recessive inheritance in most instances. Only one autopsy case had been briefly described (Lelong et al., 1941). The clinical features and the pathological findings of a new case are reported. The structures primarily involved are the grey matter of the brain stem and the spinal cord, including to some extent the optic tracts and most of the fiber tracts in the brain stem with exception of the pyramidal tracts.
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4/903. Postural hypotension in idiopathic Parkinson's disease. Etiopathology.

    Postural changes in blood pressure were recorded in all 391 patients suffering from Parkinson's syndrome over a period of six years. Intraarterial blood pressure studies were carried out in those with significant postural hypotension. Histological examination of the entire central nervous system and the sympathetic ganglia was performed in six patients suffering from idiopathic Parksinson's disease. Five of the six patients had lewy bodies in the sympathetic ganglia. Loss of nerve cells was noted in the sympathetic ganglia in those patients that demonstrated postural hypotension. The severity of the lesions in the ganglia correlated with the severity of postural hypotension in idiopathic Parkinson's disease, One case of shy-drager syndrome was similarly studied to demonstrate the differences in spinal cord and sympathetic ganglia lesions in the two conditions.
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5/903. Successful treatment of whiplash-type injury induced severe pain syndrome with epidural stimulation: a case report.

    Chronic severe cervico-facial pain syndrome associated with a whiplash-type injury was successfully treated with epidural spinal cord stimulation. The patient had been in pain for 9 years, responding temporarily only to stellate ganglion blocks. The patient has now been painless for 18 months. We have been unable to find a similar case reported in the literature to date.
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6/903. Myoclonic disorders of spinal origin.

    Data in the literature on spinal myoclonic disorders are still scanty; little has been done to ensure an adequate classification; little is known about the pathophysiology of these disorders. Three patients with spinal myoclonic jerks are described, with detailed reference to electromyographic findings. On the basis of the case reports so far available, a classification into five subgroups is suggested of spinal myoclonic jerks: 1) after cord injuries; 2) associated with intramedullary cord tumours; 3) associated with intramedullary or extramedullary cysts; 4) associated with radiculomyelitis or myelopathy; 5) associated with affections of the alpha motoneurons. A number of hypotheses on the pathogenesis of this disorder are briefly discussed: peripheral or intraspinal sprouting, degeneration of alpha motoneurons or interneurons, reduction of the dendritic tree size, and involvement of the gamma system.
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7/903. Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?

    We report on concordantly affected female identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E. The most similar condition reported is the syndrome described by Fitzsimmons and Guilbert in uniovular twins characterized by progressive spastic paraplegia, dysarthria, brachydactyly type E, and cone-shaped epiphyses. During the last 11 years a report of only one other patient with this syndrome has been published; hence, its phenotypic delineation may be only partial. Although our patients might expand the phenotypic spectrum of this syndrome, they may represent a new disorder.
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8/903. Cutaneomeningospinal angiomatosis (Cobb syndrome) with tethered cord.

    A newborn presented with a skin-covered lumbar mass with a subcutaneous hemangioma and on a magnetic resonance image (MRI) revealed a tethered spinal cord with a local mass. The mass had signal characteristics compatible with a lipoma. An initial diagnosis of a lipomeningocele with tethered cord was made, and the patient underwent surgical exploration and subtotal resection of the mass. A follow-up MRI revealed that the cord was still tethered, but an additional mass was present. The initial mass with signal characteristics of lipomatous tissue was accompanied by a low-signal mass in the lumbosacral canal, ventral to the cord, and bilateral enlargement of the foramina at the lumbosacral level. Because of a concern for an intraspinal tumor, a second operative intervention was performed. Multiple biopsies of the mass inside the spinal cord, the nerve roots and at the level of the foramina revealed angiomas that had similar pathology in all the specimens. A partial resection of the masses and a release of the tethered cord was performed by sectioning the thickened filum terminale. The diagnosis of Cobb's syndrome was made. The unique association of a tethered cord and the Cobb syndrome is reported here.
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9/903. Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases.

    We report neuropathological, biochemical and molecular studies on two patients with childhood ataxia with diffuse central nervous system hypomyelination (CACH) syndrome, a leukodystrophy recently defined according to clinical and radiological criteria. Both had severe cavitating orthochromatic leukodystrophy without atrophy, predominating in hemispheric white matter, whereas U-fibers, internal capsule, corpus callosum, anterior commissure and cerebellar white matter were relatively spared. The severity of white matter lesions contrasted with the rarity of myelin breakdown products and astroglial and microglial reactions. In the white matter, there was an increase in a homogeneous cell population with the morphological features of oligodendrocytes, in many instances presenting an abundant cytoplasm like myelination glia. These cells were negative for glial fibrillary acidic protein and antibodies PGM1 and MIB1. Some were positive for myelin basic protein, proteolipid protein (PLP), and myelin oligodendrocyte glycoprotein, but the majority were positive for human 2'-3' cyclic nucleotide 3' phosphodiesterase and all were positive for carbonic anhydrase ii, confirming that they are oligodendrocytes. Myelin protein and lipid content were reduced. The PLP gene, analyzed in one case, was not mutated or duplicated. The increased number of oligodendrocytes without mitotic activity suggests an intrinsic oligodendroglial defect or an abnormal interaction with axons or other glial cells. This neuropathological study supports the notion that CACH syndrome constitutes a specific entity.
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10/903. Successful unrelated umbilical cord blood transplantation in a child with Omenn's syndrome.

    Omenn's syndrome is a variant of combined immunodeficiency disease (CID). Like other CID forms, it causes death unless the patient receives a bone marrow transplant (BMT). Previous reports have shown that BMTs from unrelated donors in Omenn's syndrome have very poor results, with a high rate of infections during transplantation and graft rejection, when compared with transplants from related donors or patients with other CID. This study discusses the case of a 19-month-old child with Omenn's syndrome, who received an unrelated cord blood stem cell transplant (CBT). Donor and recipient had 1 HLA-Ag mismatched on HLA-B. Symptomatology improved early after CBT. The child achieved leukocytes and platelet engraftment and was discharged on day 34. His follow-up has been uneventful and at this time, 27 months after CBT, immune functions have been recovered.
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