Cases reported "Brain Diseases"

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1/14. Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.

    OBJECTIVE: To report three unrelated infants with a distinctive phenotype of Leigh-like syndrome, neurogenic muscular atrophy, and hypertrophic obstructive cardiomyopathy. The patients all had a homozygous missense mutation in SCO2. BACKGROUND: SCO2 encodes a mitochondrial inner membrane protein, thought to function as a copper transporter to cytochrome c oxidase (COX), the terminal enzyme of the respiratory chain. Mutations in SCO2 have been described in patients with severe COX deficiency and early onset fatal infantile hypertrophic cardioencephalomyopathy. All patients so far reported are compound heterozygotes for a missense mutation (E140K) near the predicted CxxxC metal binding motif; however, recent functional studies of the homologous mutation in yeast failed to demonstrate an effect on respiration. methods: Here we present clinical, biochemical, morphologic, functional, MRI, and MRS data in two infants, and a short report in an additional patient, all carrying a homozygous G1541A transition (E140K). RESULTS: The disease onset and symptoms differed significantly from those in compound heterozygotes. MRI and muscle morphology demonstrated an age-dependent progression of disease with predominant involvement of white matter, late appearance of basal ganglia lesions, and neurogenic muscular atrophy in addition to the relatively late onset of hypertrophic cardiomyopathy. The copper uptake of cultured fibroblasts was significantly increased. CONCLUSIONS: The clinical spectrum of SCO2 deficiency includes the delayed development of hypertrophic obstructive cardiomyopathy and severe neurogenic muscular atrophy. There is increased copper uptake in patients' fibroblasts indicating that the G1541A mutation effects cellular copper metabolism.
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2/14. Moebius syndrome with central hypoventilation and brainstem calcification: a case report.

    Moebius syndrome (MS) is described in an infant with central hypoventilation and brainstem calcification. The patient had limb defects and bilateral paralysis of the 6th, 7th, 9th, 10th, and 12th cranial nerves. Mechanical ventilation was continued from birth because of shallow spontaneous respiration. Computed tomography revealed brainstem atrophy and four small calcifications restricted to the dorsal portion of the pons and medulla. Prenatal brainstem injury such as ischaemia may have caused MS and central hypoventilation.
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3/14. Determination of brain death via pulsatile echoencephalography.

    For cerebral death to occur there must be many levels of cerebral function destroyed. Cortical and subcortical irreversible damage is evident by unresponsiveness to any stimuli. brain stem and basal ganglia damage is indicated by absence of spontaneous respirations, cephalic reflexes, and thus cerebral circulation. All elements of the criteria for cerebral death must be met. The decision should be made by the attending physician in consultation with his peers. The life support mechanisms should be discontinued after the diagnosis of cerebral death has been made. Absence of pulsatile echoes means absence of cerebral circulation and cerebral function, or a definitive diagnosis of cerebral death. It is a final parameter in the criteria and allows definite measures to be taken. But it behooves one to remember that this phenomenon of cerebral death makes organ donation and transplantation possible. It has not been created in order to supply the needs for organ transplant!
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4/14. Effect of aminophylline and relief from hypoxia on central sleep apnoea due to medullary damage.

    A 17-year old boy presented with severe, predominantly central sleep apnoeas secondary to structural damage in the medulla. At low O2 saturation, the electroencephalogram showed the sudden onset of slow waves. Hypercapnic ventilatory response was low and hypoxic ventilatory response was absent. Low flow oxygen therapy dramatically improved the apnoea score, probably by relieving hypoxic brain depression. Slow waves also disappeared with oxygen therapy. aminophylline was effective on apnoea score and duration (p less than 0.001). This beneficial effect could be explained by an improvement of the normal oscillations of respiration at the onset of sleep, a change in arousability or a stimulation of the ascending reticular system. These findings suggest a possible role of hypoxic depression in the manifestations of central sleep apnoeas and demonstrate the beneficial effect of low flow oxygen and aminophylline in treating certain central sleep apnoeas.
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5/14. Central pontine myelinolysis.

    A patient is reported whose ailment meets the criteria of CPM. The illness was complicated by pneumonitis, most likely of the aspiration type. Of particular interest was the reversibility of a clinical picture of marked deterioration when attention was paid to fluid and electrolyte balance and maintenance of respiration. This patient's illness appears to meet the criteria of CPM, namely impairment of the facial muscles and tongue with dysphagia and dysarthria, flaccid quadriparesis or quadriplegia, and frequently, lack of response to painful stimuli followed by respiratory paralysis. The presence of peripheral neuropathy has been previously noted in a patient with CPM, but it is not an integral part of the disease.
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6/14. Delayed encephalopathy following cardiac arrest.

    A 46 year old woman suffered a post-operative cardiac arrest associated with prolonged depression of oxygenation and respiration. She made a good initial recovery but one year later insidiously developed symptoms of widespread central nervous system damage compatible with a delayed post-hypoxic encephalopathy. This case is unusual in the length of time between the hypoxic insult and the later deterioration and also illustrates other atypical features of a delayed post-hypoxic syndrome.
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7/14. Cyclic EEG changes in subacute spongiform and anoxic encephalopathy.

    Polygraphic recordings of EEG, EMG, EKG and respiration were made on three patients with histologically verified subacute spongiform encephalopathy and one patient with anoxic encephalopathy both before and after intravenous diazepam. The records showed cyclical activity occurring about every half minute in which the EEG changes were correlated with myoclonus and cardio-respiratory changes. It is suggested that these cycles represent spontaneous cycles of arousal to which the 1/sec sharp waves are related wnd which result from the same mechanisms that produce other cyclical autonomic phenomena.
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8/14. Partial pontine hematomas.

    Two hypertensive men presented clinically with small, largely unilateral hematomas of the pons and midbrain demonstrated by computerized tomography. Clinical manifestations included "ocular bobbing," complex forms of ophthalmoplegia, cheyne-stokes respiration, and pyramidal tract signs. The "typical" sings of massive pontine hemorrhage--including coma, pinpoint pupils, and hyperthermia--were absent.
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9/14. A case of suspected congenital rubella encephalopathy.

    A case of suspected congenital rubella syndrome was reported. The patient, a 3-month-old female, was admitted because of irregular respiration. She was diagnosed as suspected congenital encephalodysplasia by CT-scan. Her condition deteriorated and she died 11 days after admission. From postmortem findings it was speculated that neuropathological findings were caused by rubella virus infection in uterus and the injury on delivery.
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10/14. Positron emission tomography and magnetic resonance spectroscopy of cerebral glycolysis in children with congenital lactic acidosis.

    Congenital lactic acidosis with neurological symptoms may be due to a variety of disorders of energy metabolism. We investigated whether positron emission tomography (PET) and proton magnetic resonance spectroscopy (1H MRS) are capable of demonstrating specific changes to facilitate diagnosis. A corresponding increase of cerebral lactate (with MRS) and rate of glycolysis (with PET) was observed in 2 children with biochemical evidence of defective mitochondrial respiration. No such increase was noted in a child with lactic acidosis due to stress and exercise but normal respiratory chain activity, and in a control case with an epilepsy syndrome without evidence of primary changes of energy metabolism. The results suggest that defects of oxidative phosphorylation may cause a massive increase of glycolysis to cover energy requirements, with corresponding accumulation of lactate in brain tissue. This mechanism can now be demonstrated in vivo and, with further experience, may potentially be used as a diagnostic marker of respiratory chain disorders in brain tissue.
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