Cases reported "Brain Diseases, Metabolic"

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1/16. valproic acid-induced hyperammonemic encephalopathy with triphasic waves.

    PURPOSE: To examine a patient with valproic acid (VPA)-induced hyperammonemic encephalopathy accompanied by triphasic waves. methods: A 61-year-old male patient with epilepsy experienced disturbance of consciousness after VPA dose was increased because of poor seizure control. The electroencephalogram (EEG) taken on admission revealed triphasic waves and high-amplitude delta-activity with frontal predominance. Although serum hepatic enzymes, such as AST and ALT, were normal, serum ammonium level was high at 96 microg/dl (normal range, 3-47 microg/dl). serum amino acid analysis showed multiple minor abnormalities. Administration of VPA was discontinued immediately after admission, while other anticonvulsants were continued. RESULTS: The patient's condition was improved on the fourth day of admission. An EEG, serum ammonium level, and amino acid profile were normal on the eighth day. Based on VPA administration, serum ammonium levels, and results of amino acid analysis, this patient had VPA-induced hyperammonemic encephalopathy. CONCLUSIONS: Our case indicates that caution is required if triphasic waves appear in VPA-induced hyperammonemic encephalopathy.
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ranking = 1
keywords = consciousness
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2/16. Conceptual dilemmas in evaluating individuals with severely impaired consciousness.

    States of severely impaired consciousness (SIC) are characterized by cognitive and motor limitations. This case report describes a 45-year-old female with impaired consciousness who began to 'walk'. She initially presented to the hospital unresponsive and was subsequently diagnosed with metabolic encephalopathy due to severe hypoglycaemia. Traditional indices of consciousness indicated a low level of responsiveness; however, during physical therapy, she displayed reciprocal walking movements when lifted to a standing position by two therapists. Despite her ability to walk increased distances during and after neurorehabilitation, she was unable to consistently demonstrate responses indicative of higher levels of consciousness. This case illustrates the challenge of rating patients with limited behavioural repertoire using established measures of impaired consciousness.
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ranking = 9
keywords = consciousness
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3/16. GM1 gangliosidosis type 2 in two siblings.

    A sister and brother, now aged 7 and 9 years, presented with developmental arrest, gait disturbance, dementia, and a progressive myoclonic epilepsy syndrome with hyperacusis in the second year of life. Then, spastic quadriparesis led to a decerebrate state. In the absence of macular or retinal degeneration, organomegaly, and somatic-facial features suggesting mucopolysaccharidosis, the presence of hyperacusis together with sea-blue histiocytes in bone marrow biopsies and deficient beta-galactosidase activity but normal glucosidase, hexosaminidase, and neuraminidase activity on lysosomal enzyme assays constitutes the clinical-pathologic-biochemical profile of GM1 gangliosidosis type 2. This is a rare, late infantile onset, progressive gray-matter disease in which beta-galactosidase deficiency is largely localized to the brain, though it can be demonstrated in leukocytes and cultured skin fibroblasts. It must be distinguished from the Jansky-Bielschowsky presentation of neuronal ceroid lipofuscinosis, mitochondrial encephalopathy, lactic acidosis, strokelike episodes (MELAS) and myoclonic epilepsy with ragged-red fibers (MERRF) syndromes, atypical presentations of GM2 gangliosidoses (Tay-Sachs and Sandhoff's diseases), primary sialidosis (neuraminidase deficiency), galactosialidosis, and Alpers' disease.
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4/16. Oligodendrocytes within astrocytes ("emperipolesis") in the cerebral white matter in hepatic and hypoglycemic encephalopathy.

    We report the occurrence of oligodendrocytes within astrocytes ("emperipolesis") in two autopsy cases of metabolic encephalopathy: one patient with hepatic encephalopathy due to citrullinemia who suffered recurrent unconsciousness (clinical duration, 32 months) and another with hypoglycemic encephalopathy who lapsed into a persistent vegetative state (clinical duration, 22 months). In both cases, hypertrophic astrocytes were found to have engulfed one to several oligodendrocytes in the devastated cerebral white matter. Previous studies have reported that emperipolesis occurs in various CNS diseases showing destruction of myelin or inflammation of the white matter, including multiple sclerosis, cerebral infarct and CJD. The present findings suggest that emperipolesis can occur even in chronic metabolic disorders that extensively involve the cerebral white matter.
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ranking = 1.0137890589239
keywords = consciousness, state
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5/16. Hypoglycemic encephalopathy with extensive lesions in the cerebral white matter.

    Here we report an autopsy case of hypoglycemic encephalopathy with prolonged coma. Laboratory data obtained when the patient lapsed into a coma showed that she had a low level of serum glucose (27 mg/dL). Although the level of glucose returned to within the normal range rapidly after glucose infusion, the patient remained in a coma for 22 months. It was presumed that the state of hypoglycemia persisted for about 4 h. There was no evidence of hypotension or hypoxia. magnetic resonance imaging was performed 3 h after glucose administration; diffusion-weighted images revealed hyperintensity in the cerebral white matter and in the boundary zone between the middle and posterior cerebral arteries. Post-mortem examination revealed superficial laminar necrosis throughout the cerebral cortex. Neuronal necrosis was also found in the hippocampus and dentate gyrus, although the CA3 region appeared normal. In addition to these lesions, which are consistent with hypoglycemia-induced brain damage, the cerebral white matter exhibited severe loss of myelin and axons with reactive astrocytosis and macrophage infiltration. Old infarcts were also present in the bilateral occipital lobes. Since the cerebral blood flow is reported to be decreased during severe hypoglycemia, the present findings suggest that white matter lesions and boundary-zone infarctions may develop primarily in uncomplicated hypoglycemia.
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6/16. rhabdomyolysis associated with cranial diabetes insipidus.

    rhabdomyolysis has been reported to be associated with hyperosmolality in diabetic ketoacidosis and non-ketotic hyperosmolal state. Whether the rhabdomyolysis was due to hyperosmolality per se or whether hyperglycaemia also played a role is not clear. We hereby report a case of cranial diabetes insipidus with hypernatraemia and hyperosmolality complicated by rhabdomyolysis. None of the known risk factors, such as coma, hypokalaemia, hypophosphataemia, diabetic ketoacidosis or non-ketotic hyperosmolality, were present in this patient. We believe that severe hyperosmolality per se is an important predisposing factor for non-traumatic rhabdomyolysis, and serum muscle enzymes should be closely monitored in the management of patients with diabetes insipidus.
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7/16. Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes.

    A 7-month-old boy died in a demented state after a clinical history characterized by generalized seizures, psychomotor deterioration, and fumaric aciduria. We found a marked deficiency of both mitochondrial and cytosolic fumarases in skeletal muscle, brain, cerebellum, heart, kidney, liver, and cultured fibroblasts. Fumarase activities were 30 to 50% compared with controls in both mitochondria and cytosol from cultured fibroblasts of the parents. Antifumarase cross-reacting material was present in negligible amounts in the patient's tissues. Our data indicate that this disease is an autosomal recessive encephalopathy, due to a single mutation affecting the gene encoding both forms of the enzyme.
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8/16. Subclinical pseudohypoparathyroidism type II: evidence for failure of physiologic adjustment in calcium metabolism during pregnancy.

    patients with latent disorders of hormone response mechanism are rarely found. This paper reports a case of subclinical pseudohypoparathyroidism type II in which physiological adjustment of calcium (Ca) metabolism became insufficient only in the second half of pregnancy. A 34-year-old woman examined for a slight bruise on the head was incidentally found to have marked intracranial calcification and a full set of false teeth. From her history of past pregnancy, it was revealed that she suffered from symptoms of hypocalcemia during late gestation (serum total Ca level, 4.8-6.4 mg/dl), which disappeared spontaneously after delivery. When the woman was not pregnant, although only the total Ca level was slightly below the normal range (7.7-8.4 mg/dl), the serum ionized Ca, phosphorus (P), magnesium, 1,25-dihydroxycholecalciferol and 24,25-hydroxycholecalciferol levels, plasma parathyroid hormone (PTH) level and urinary excretion of Ca were all normal without treatment. Intravenous infusion of 30 mg/kg EDTA-2Na resulted in marked elevation of plasma PTH associated with significant reduction of serum ionized Ca. In contrast, although her urinary excretion of phosphorous per hour was within the normal range in the basal state, she showed no proportional change in urinary phosphorous excretion with increase in urine cyclic amp induced by administration of PTH(1-34). From these findings, she was diagnosed as having an incomplete form of pseudohypoparathyroidism Type II. This abnormality seems to be rare, but we consider that the present observations provide important information for preventive care of pregnant women and fetuses during gestation.
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9/16. magnetic resonance imaging in a case of autopsy-proved adult subacute necrotizing encephalomyelopathy (Leigh's disease).

    Leigh's disease, or subacute necrotizing encephalomyelopathy (SNE), in adults is rare, and its diagnosis has depended on the postmortem identification of characteristic lesions in a typical distribution. We observed an autopsy-proved case of SNE in which the diagnosis was established by the distribution and evolution of lesions documented by serial magnetic resonance imaging (MRI). A 21-year-old woman insidiously developed diplopia and gait disturbance, and subsequently deteriorated to a vegetative state over seven months. An initial MRI obtained one month after presentation showed increased signal intensity that surrounded the aqueduct of Sylvius and involved the tectum of the midbrain. Serial MRI scans showed these lesions to extend and symmetrically involve the tectum of the midbrain, caudate, putamen, globus pallidus, and substantia nigra, while sparing the mammillary bodies and red nuclei. Despite treatment with 2 g of thiamine administered intravenously daily, she continued to deteriorate and died. Results of an autopsy established the diagnosis of SNE and confirmed the MRI-identified distribution of lesions. To our knowledge, this case is the first report of MRI findings in an adult with autopsy-proved SNE, suggesting that MRI can be valuable in the early diagnosis of this disease.
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10/16. Automatic respiratory failure: sleep studies and Leigh's disease (case report).

    A 34-year-old woman with a history of chronic nephropathy, kidney transplant rejections, and repeated hemodialysis developed symptoms of automatic respiratory failure during all states of sleep. The neuropathologic examination revealed symmetric brainstem lesions, explaining the sleep-related respiratory failure. histology affirmed the diagnosis of Leigh's disease.
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keywords = state
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