Cases reported "Brain Diseases, Metabolic"

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1/283. Electroencephalographic findings in ornithine transcarbamylase deficiency.

    A 3-day-old infant presented with anorexia, irritability, hypotonia, and seizures. blood ammonia was 2115 micromol/L and amino and organic acid analyses were consistent with ornithine transcarbamylase deficiency. liver biopsy confirmed only 1% enzyme activity. The patient was treated with hemodialysis. An electroencephalogram (EEG) revealed multifocal independent spike-and-sharp-wave discharges. After initial stabilization he was placed on a low-protein diet with citrulline and phenylbutyrate. Conjugating agents (arginine, sodium benzoate, and sodium phenylacetate) have been added during periods of metabolic decompensation. Although developmentally delayed, the patient has shown signs of clinical improvement and EEG activity has likewise improved with only mild background slowing and no evidence of epileptogenic activity at 4 years of age. A second infant presented at 3 days of age with a similar history, blood ammonia of 1382 micromol/L, and metabolic studies indicative of ornithine transcarbamylase deficiency. EEG showed multifocal independent ictal and interictal discharges. Electrographic abnormalities persisted despite lowering of blood ammonia with hemodialysis and conjugating agents. The patient continued to decline clinically and died on the 7th hospital day. EEG changes parallel the clinical course of ornithine transcarbamylase deficiency and may serve as an objective marker of the effectiveness of therapeutic interventions. ( info)

2/283. hyponatremia-induced metabolic encephalopathy caused by Rathke's cleft cyst: a case report.

    Rathke's cleft cysts are sometimes associated with aseptic meningitis or metabolic encephalopathy due to hyponatremia. We treated such a case manifest by lethargy, fever and electroencephalographic abnormalities. A 68-year-old man was admitted to our ward after experiencing general malaise, nausea and vomiting and then high fever and lethargy. On admission, he was drowsy and had nuchal rigidity and Kernig's sign. Physically, he was pale with dry, thickened skin. He had lost 5.0 kg of body weight in the last month. His serum sodium was 115 mEq/l. He had a low serum osmotic pressure (235 mOsmol/l) and a high urine osmotic pressure (520 mOsmol/l). His urine volume was 1200-1900 ml/24 h with a specific gravity of 1008-1015. The urine sodium was 210 mEq/l. He did not have an elevated level of antidiuretic hormone. Electroencephalograms showed periodic delta waves over a background of theta waves. With sodium replacement, the patient become alert and symptom free, and his electroencephalographic findings normalized. However, the serum sodium level did not stabilize, sometimes falling with a recurrence of symptoms. magnetic resonance imaging clearly delineated a dumbbell-shaped intrasellar and suprasellar cyst. The suprasellar component subsequently shrunk spontaneously and finally disappeared. An endocrinologic evaluation showed panhypopituitarism. The patient was given glucocorticoid and thyroxine replacement therapy, which stabilized his serum sodium level and permanently relieved his symptoms. A transsphenoidal approach was performed. A greenish cyst was punctured, and a yellow fluid was aspirated. The cyst proved to be simple or cubic stratified epithelium, and a diagnosis of Rathke's cleft cyst was made. The patient was discharged in good condition with a continuation of hormonal therapy. Rathke's cleft cyst can cause aseptic meningitis if the cyst ruptures and its contents spill into the subarachnoid space. Metabolic encephalopathy induced by hyponatremia due to salt wasting also can occur if the lesion injures the hypothalamus and pituitary gland. ( info)

3/283. chorea in patients with AIDS.

    OBJECTIVE: To describe differing etiologies and possible anatomoclinical correlates of choreic movements in a series of AIDS patients. methods: We analyzed the clinical records and neuroimaging data of 5 consecutive AIDS patients who developed choreic movements at our center from January, 1994 to December, 1996. RESULTS: There were 2 cases of focal choreic dyskinesias, 1 of right hemichorea, and 2 of generalized chorea. Onset was acute and febrile in 1 case, and subacute in the other 4. In 1 patient the chorea was the AIDS onset symptom; in another choreic movements were the first neurological symptom following AIDS diagnosis; in 2 patients AIDS had a neurological onset other than chorea; and in the fifth patient buccofacial dyskinesias appeared following the development of bacterial encephalitis. CONCLUSION: chorea was associated with cerebral toxoplasmosis in 2 patients, progressive multifocal leukoencephalopathy in 1, subacute hiv encephalopathy in another, and was probably iatrogenic in the last. chorea is not unusual in AIDS, however the causes are variable and careful neuroradiological and clinical evaluation is required to identify them. AIDS-related disease should be considered in young patients presenting with chorea without a family history of movement disorders. ( info)

4/283. In vivo brain proton MR spectroscopy in a case of molybdenum cofactor deficiency.

    A 20-day-old infant with molybdenum cofactor deficiency, a rare encephalopathy, was investigated using cerebral MRI and proton MR spectroscopy. Images demonstrated extensive white-matter destruction with large cavities. The short-echo-time MR spectrum acquired in the parieto-occipital area was characterised by global loss of signal and accumulation of lactate. No additional signal in relation to the pathophysiology of the disease was detected. The brain metabolic abnormalities observed in this patient may reflect destruction of white matter and the presence of large cavities. ( info)

5/283. Reversible brain creatine deficiency in two sisters with normal blood creatine level.

    We describe a new creatine metabolism disorder in 2 young sisters who suffered from mental retardation and severe language delay. blood examination, investigation of the most common neurometabolic disorders, and brain magnetic resonance imaging were normal. diagnosis was established only by means of in vivo proton magnetic resonance spectroscopy, which disclosed generalized depletion of creatine in the brain. creatine monohydrate oral administration led to almost complete brain creatine level restoration along with improvement of the patients' disabilities. ( info)

6/283. Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect.

    Recently, 3 patients with a creatine synthesis defect have been described. They presented with developmental regression, extrapyramidal movement abnormalities, and intractable epilepsy, and they improved with treatment of creatine monohydrate. We report 2 unrelated boys with a creatine synthesis defect and nonspecific presenting signs of psychomotor retardation, behavioral problems, and, in 1, mild epilepsy. Metabolic urine screening revealed elevations in all metabolites, expressed as millimoles per mole of creatinine, which suggests decreased creatinine excretion. This finding led to the correct diagnosis. We propose to include the assessment of the overall concentrations of amino acids and organic acids relative to creatinine in routine metabolic urine screening. ( info)

7/283. 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. ( info)

8/283. Encephalopathy in a patient with addison disease.

    patients with adrenal insufficiency manifest a myriad of metabolic disorders which can inflict neurologic damage. Here we present an unusual clinical presentation and distinctive imaging features in a patient with addison disease. ( info)

9/283. Prolonged cerebral salt wasting syndrome associated with the intraventricular dissemination of brain tumors. Report of two cases and review of the literature.

    hyponatremia is a frequent event in neurosurgery practice and is usually associated with subarachnoid hemorrhage, head trauma, infections and neoplasms. The two common clinical manifestations are the inappropriate secretion of antidiuretic hormone (SIADH) and the cerebral salt wasting syndrome (CSWS), which were usually attributed to each other due to identical clinical presentation. In contrast to the better-recognized SIADH, there has not been a uniform consensus over the humoral and neural mechanisms of CSWS and functional aspects of renal response. In this article, we report on 2 cases of a primitive neuroectodermal tumor with prolonged CSWS manifested during the intraventricular dissemination of primary disease and the high catabolic stage. ( info)

10/283. A case of susac syndrome.

    susac syndrome is a readily recognized but often misdiagnosed disorder almost exclusively affecting women in the 20- to 40-year age range. Characterized by the clinical triad of encephalopathy, branch retinal artery occlusions, and sensorineural hearing loss, patients with susac syndrome are often misdiagnosed with multiple sclerosis (MS). Unlike MS, however, the disease process extends over a 1- to 2-year period and then goes into remission. This presentation describes the progression of symptoms of a patient eventually diagnosed with susac syndrome. ( info)
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