Cases reported "Disease Progression"

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1/154. Clinical, pathologic, and neurochemical studies of an unusual case of neuronal storage disease with lamellar cytoplasmic inclusions: a new genetic disorder?

    A child of first-cousin Puerto Rican parents had global developmental delay, failure to thrive, and hypotonia since early infancy. At 1 1/2 years of age, she developed clinical and electrophysiologic evidence of progressive motor and sensory neuropathy. At 2 1/2 years, she developed visual impairment and optic atrophy followed by gradual involvement of the 7th, 9th, 10th, and 12th cranial nerves. Uncontrollable myoclonic seizures began at 4 years and she died at 6 years of age. Motor nerve conduction velocities were initially normal and later became markedly slowed. Sensory distal latency responses were absent. Lysosomal enzyme activities in leukocytes and fibroblasts were normal. sural nerve and two muscle biopsies showed only nondiagnostic abnormalities. Electron microscopy of lymphocytes, skin, and fibroblasts showed cytoplasmic inclusions. light microscopy of frontal cortex biopsy showed neuronal storage material staining positively with Luxol fast blue, and electron microscopy showed cytoplasmic membranous bodies in neurons, suggesting an accumulation of a ganglioside. At autopsy, all organs were small but otherwise normal and without abnormal storage cells in the liver, spleen, or bone marrow. Anterior spinal nerve roots showed loss of large myelinated axons. The brain was small and atrophic; cortical neurons showed widespread accumulation of storage material, most marked in the pyramidal cell layer of the hippocampus. Subcortical white matter was gliotic with loss of axons and myelin sheaths. In cortical gray matter there was a 35% elevation of total gangliosides, with a 16-fold increase in GM3, a three- to four-fold increase in GM2 gangliosides, and a 15-fold elevation of lactosyl ceramide. GM3 sialidase activity was normal in gray matter at 3.1 nmols/mg protein per hour and lactosyl ceraminidase I and II activities were 70% to 80% of normal. In white matter, total myelin was reduced by 50% but its composition was normal. Phospholipid distribution and sphingomyelin content were normal in gray matter, white matter, and in the liver. These biochemical findings were interpreted as nonspecific abnormalities. The nature of the neuronal storage substance remains to be determined.
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2/154. Chronic steadily progressive central and peripheral predominantly motor demyelination, involving the cranial nerves, responsive to immunoglobulins.

    The association of central and peripheral demyelination was reported previously. Most of the cases refer to central chronic relapsing demyelination with clinical criteria for multiple sclerosis associated with later signs of peripheral nerve involvement. Other authors, described central lesions in patients with chronic inflammatory demyelinating polyneuropathy and in guillain-barre syndrome, as a seldom occurrence. We report a patient in which a chronic steadily progressive central and peripheral predominantly motor nervous system demyelination, involving the cranial nerves, was identified. The patient improved after intravenous immunoglobulin suggesting an immune-mediated mechanism. To our knowledge this presentation was not described before.
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3/154. Facial neuromas in children: delayed or immediate surgery?

    OBJECTIVE: The objective of this study was to investigate the clinical characteristics and outcome of facial nerve neuromas in children. To date, no specific study has focused on children, and the management of these tumors is not codified. DESIGN AND SETTINGS: A review of case series treated in a tertiary care center of pediatric otolaryngology. SUBJECTS: The treatment and outcomes for 7 children (4 infants and 3 adolescents) were analyzed. RESULTS: Six patients underwent complete removal of tumor and immediate restoration of the nerve continuity. The grade of facial palsy improved in 4 of the 6 children, but did not get better than grade 3 (House classification). The remaining patient was managed conservatively and remained stable clinically and radiologically after 9 years follow-up. CONCLUSIONS: These findings support the reasonable strategy of combining conservative assessment of these slow-growing tumors with regular clinical and radiologic evaluations and radical surgery using various procedures. The choice depends on the age of the child, the extent and growth rate of the tumor, the grade of facial palsy, and the hearing function.
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4/154. Study of the cell biology and biochemistry of cherubism.

    AIMS: To establish whether the multinucleate cells in lesions of patients with cherubism are also osteoclasts and if this is the case whether they were responsive to calcitonin; to carry out cytogenetic studies on two members of the same family affected by cherubism in an attempt to identify any major chromosomal defects; and to perform an in-depth modern biochemical study of four children in the same family. SUBJECTS AND methods: Four related children with cherubism were studied. Tissue taken from one of the children at elective decompression of an optic nerve was submitted to in vitro bone resorption studies. Cytogenetic studies were done on two of the children and biochemical studies on all four. RESULTS: The multinucleate cells in the cherubic lesions were shown to be osteoclasts since they synthesised tartrate resistant acid phosphatase, expressed the vitronectin receptor, and resorbed bone. bone resorption by the cultured multinucleate cells was significantly inhibited by calcitonin. High resolution cytogenetic studies failed to detect any chromosomal abnormalities in two children with cherubism. The biochemistry profile of all four children with cherubism showed that serum calcium, parathyroid hormone, parathyroid related hormone, calcitonin, and alkaline phosphatase were within normal levels. urine analysis of pyridinium and deoxypyridinium cross links, hydroxyproline, and calcium in relation to urine creatinine were measured to assess bone resorption in these children, and the values were at the upper end of the normal range in all four. CONCLUSIONS: Further studies are required to determine whether calcitonin treatment will control this grossly deforming disease until the time when the physiological changes that occur at puberty rectify the pathology. It is not recommended that biochemical markers of bone resorption are used in isolation to monitor the activity of cherubism in individuals because the results are based on a small number of children and because of reports of marked interindividual variation in the levels of these markers, particularly in children.
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5/154. Autosomal recessive type II hereditary motor and sensory neuropathy with acrodystrophy.

    A family is described with presumed autosomal recessive inheritance in which three siblings developed a progressive neuropathy that combined limb weakness and severe distal sensory loss leading to prominent mutilating changes. Electrophysiological and nerve biopsy findings indicated an axonopathy. The disorder is therefore classifiable as type II hereditary motor and sensory neuropathy (HMSN II). The clinical features differ from those reported in previously described cases of autosomal recessive HMSN II. This disorder may therefore represent a new variant.
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6/154. Progressive catatonia.

    We present the case of a young man with a diagnosis of a childhood-onset pervasive developmental disorder who developed a progressive neurologic deterioration with persistent catatonia and right hemiparesis. On his initial evaluation approximately three years after the onset of mutism, he manifested right hemiparesis and catalepsy. Two years later, although catalepsy had subsided, motor function had deteriorated so that he could not use his hands to feed or dress himself. Oral-facialbuccal dyskinesia manifested by blepharospasm and grimacing were present constantly during waking hours. Quantitative electroencephalography demonstrated markedly decreased amplitude, a finding associated with catatonia. Left sural nerve biopsy indicated large axon cylinder degeneration. Left deltoid biopsy demonstrated perimysial fibrosis and type II fiber predominance. Although magnetic resonance imaging of the head without contrast was normal, positron emission tomography indicated hypometabolism of the right cerebral and the right cerebellar hemispheres. The patient continues to deteriorate despite a course of 25 electroconvulsive treatments. He continues to manifest criteria for catatonia including motoric immobility, mutism, and peculiarities of voluntary movement such as prominent grimacing. We suspect an inherited neurodegenerative disorder. Since catatonia is a treatable condition frequently associated with medical and neurological diseases, examination for the features of catatonia must be included in the assessment of patients with progressive brain degeneration. This report is an attempt to clarify the traits of a serious variant of progressive brain degeneration.
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7/154. MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency.

    MRI was performed in two siblings with the neuropathic sphingomyelinase deficiency caused by identical mixed heterozygosity in the structural acid sphingomyelinase gene. The clinical phenotype of the cases is unique in showing a rather protracted course, both having reached the fourth decade. Pronounced cerebellar and mild supratentorial atrophy was seen on MRI in both siblings, in contrast to their strikingly different clinical status. One has no overt neurological deficit, while the second had neocerebellar symptoms and signs, nystagmus and cranial nerve palsies for some years. The MRI findings, together with the cherry-red spot in the ocular fundus, ultrastructurally proved storage in cutaneous nerve schwann cells and the histopathologically proven brain neuronal storage in a third sibling who died after a relatively rapid course dominated by fatal visceral storage, is evidence that a remarkably restricted neuropathology can be caused by this enzymopathy.
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8/154. Acropathia ulcero-mutilans acquisita of the upper limbs.

    We report an 80-year-old woman with a bilateral mutilating acro-osteolysis of the fingers progressing over a period of 3 years. As the patient refused nerve or muscle biopsies, our diagnosis of acropathia ulcero-mutilans acquisita or Bureau-Barriere syndrome, characterized by osteolysis, remains hypothetical. Sporadic sensory mutilating acropathy of the upper limbs is rare, and we discuss the differential diagnosis.
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9/154. Progressive disease of the atrioventricular conduction axis in an infant of an anti-Ro positive mother.

    A child of a mother with maternal anti-Ro and anti-La antibodies presented antenatally with abnormal myocardial function, and was found to have a first degree heart block at birth. The extent of the abnormality in the conduction system progressed, with appearance of left bundle branch block in addition to further prolongation of PR interval. A pacemaker was implanted prophylactically, but patient has remained well, with no further deterioration in her atrioventricular conduction.
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10/154. Laminar and arch fractures with dural tear and nerve root entrapment in patients operated upon for thoracic and lumbar spine injuries.

    OBJECTIVE: To determine the neurological outcome in patients with laminar fractures associated with dural tears and nerve root entrapment, operated upon for thoracic and lumbar spine injuries. PATIENT population: Out of 103 patients operated upon consecutively for thoracic and lumbar spine injuries during the period 1990 to 1994 inclusive, 24 (23.3%) patients had laminar fractures out of whom 3 (2.9%) had an associated dural tear and an other 17 (16.5% or 70.8% of the total patients with laminar fractures) had an associated dural tear and nerve root entrapment. RESULTS: Twelve (70.5%) patients had injury at the thoraculumbar junction, 13 (76.5%) had Magerl's type A3 or above, 10 (58.8%) had a kyphotic angle deformity greater than 5 degrees. Seven (41.1%) had their spinal canal's sagittal diameter reduced by at least 50% and two had dislocations. Nine (52.9%) had initial neurological deficits. Four (50%) out of 8 patients with no initial neurological deficits (Frankel E) worsened to Frankel D. However, one patient among the 3 with initial Frankel A improved to Frankel C while both patients with initial Frankel C usefully improved to final Frankel grades D and E respectively. Two of the four patients with initial Frankel D improved to Frankel E, the other 2 remaining unchanged. All in all five patients neurological status improved, 4 worsened and 8 remained unchanged after neurosurgical treatment. CONCLUSIONS: Vertical laminar fractures with dural tears and nerve root entrapment represent a special group of thoracic and lumbar spine injuries that carry a poor prognosis. However, special operative precautions lead to significant improvement in some of them although a majority remain unchanged or even worsened.
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