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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two patients with mitochondrial encephalomyopathy (MEP) serve to emphasize the variability of this group of diseases. Cerebral insults, mitochondrial cardiopathy, relapsing ileus, cerebral angioma, ataxia, and myoclonic seizures characterized the first case of an adult man with similar diseases in his family, interpreted as transitional form between mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and myoclonus epilepsy associated with ragged red fibers (MERRF). The second patient, a floppy infant with cardiomyopathy and myoclonism, statomotoric and mental retardation showed combined defects in mitochondrial respiratory chain at NADH-CoQ reductase and cytochrome c oxidase and a deficiency of carnitine. In both patients neuropathologically criteria of Leigh's syndrome could be demonstrated in the cerebral cortex, in case 2 also clinically. The classificatory problems of the relationships between KSS, MELAS, MERRF, Leigh's as well as Alpers' syndromes are discussed.
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PMID:Mitochondrial myopathies with necrotizing encephalopathy of the Leigh type. 322 73

Basing on the example of two cases, the clinical and morphological variability of mitochondrial encephalomyopathies is demonstrated. Both patients were of short build, and the clinical signs and symptoms were dementia, ataxia, epilepsy and hardness of hearing, whereas signs of myopathy were very mild or absent. Computed tomography showed infratentorial pronounced atrophy of the brain and basal ganglia calcifications, in one case additionally ischemic infarctions, as can be seen in "mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome" (MELAS). A CT follow-up over 8 years with a progression of the abnormalities parallel to the progressive clinical course is demonstrated. Besides typical "ragged red fibres-myopathy" different abnormalities of mitochondria were seen by the electron microscope. One of the patients died; he had exceptional pathological-anatomical findings with mitochondrial cardiomyopathy, angioma and necrotising encephalopathy of Leigh's type. The two case reports show that in patients with such multisystemic neurological signs and CT-findings mitochondrial encephalomyopathy should be considered and a muscle biopsy should be performed.
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PMID:[Mitochondrial encephalomyopathy: clinical aspects, CT morphology and neuropathology]. 339 29

The liver in an infant or child is as liable to the same pathologies afflicting the adult liver but with certain differences in prevalence and causes. Genetic disorders are more likely to present in the paediatric age group where many involve metabolic processes such as galactosemia, phenylketonuria, glycogen storage disease and others. Many of these present in the newborn period. However, neoplasms and hamartomas also present in the newborn period, such as congenital neuroblastoma with an enormously enlarged liver, hepatoblastoma and haemangioma. The latter may present with intractable cardiac failure as a result of considerable shunting of blood. Acquired liver lesions often present in the newborn period or early infancy and this includes hepatitis and biliary atresia. The difficulties in the differentiation of the two lesions will be discussed together with the management of biliary atresia. As the child grows older, Reyes encephalopathy with microvesicular fat in the liver is not uncommon. The pathophysiology of Reyes encephalopathy as seen locally will be described. The choledochal cyst with direct (Caroli's disease) or indirect effect on the liver will be described. Problems of childhood portal hypertension as well as congenital hepatic fibrosis will be described. Hemosiderosis of the liver is chiefly seen in homozygous beta-thalassaemia patients who have been kept alive with repeated blood transfusions. Amoebic and pyogenic hepatitis, fatty liver due to protein malnutrition, biliary ascariasis, etc, which are common in tropical and subtropical countries are rarely seen now in Singapore children.
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PMID:Paediatric liver disorders in Singapore. 346 38

Central neurological pathology in the course of puerperium was studied in 105 observations. One could distinguish: --meeting pathology (tumoral, metabolic, infectious processes) 12 cases, --cerebral vascular accidents (arterial, venous...) 30 cases, These two groups corresponded to a pathology without any obvious connection with gravidic toxemia. --eclamptic or not eclamptic toxemia with encephalopathy: 21 cases, --finally, toxemia associated to or complicated with focused neurological syndromes: 42 cases. Concerning cerebral vascular accidents, one could verify the importance of hemorrhagical accidents (13 cases: 3 subdurhematoma, 4 sub-arachnoid hemorrhages, 6 intra-cerebral hematoma (2 of them corresponded to previous affections revealed by the hemorrhage) (angioma, chorioepithelioma, metastases) and thrombo-embolic accidents (16 cases) corresponding especially to arterial thromboses, the frequency of which seems more important than the frequency of venous thromboses. Any generalized or focused central neurological accident sets the problem of toxemia but is not obligatory toxemic. An associated disorder of hemostasis (hypercoagulability, consumption coagulopathy) has to be searched for.
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PMID:[Acute central neurologic complications and the pregnancy-puerperal status. 105 cases in an intensive care unit. Contribution to the study of the relation between pregnancy toxemia and cerebral vascular accidents]. 665 Oct 76

The aim of this retrospective study was to assess the contribution of thallium-201 single-photon emission tomography (SPET) in the detection and differential diagnosis of brain tumours. In 90 patients 201Tl SPET was performed because of clinical or radiological suspicion of tumoral invasion, completed by technetium-99m hexamethylpropylene amine oxime and 99mTc-sestamibi SPET in some patients. For all tumours, diagnosis was based on biopsy or autopsy. Other diagnoses were made only after clinical and radiological follow-up for at least 6 months. Histologically tumours consisted of astrocytoma stage I or II (number of patients, n = 6), astrocytoma stage III (n = 8), glioblastoma multiforme (n = 14) and oligodendroglioma (n = 3), brain metastasis (n = 14), lymphoma (n = 3), meningioma (n = 3), pituitary adenoma (n = 2), pineal tumour (n = 1), colloid cyst (n = 1) and craniopharyngioma (n = 1). False-negative studies included pineal tumour (n = 1), colloid cyst (n = 1), craniopharyngioma (n = 1), astrocytomas stage I or II (n = 6) and stage III (n = 3), oligodendroglioma (n = 2) and metastasis in the brain stem (n = 1). Additional metastases approximately < 1.5 cm were not detected in two patients and 201Tl SPET underestimated tumoral extent in one patient suffering from glioblastoma multiforme (n = 1). A false-positive study was obtained in a patient with skull metastasis (n = 1). All 15 patients who were finally shown to suffer from ischaemic infarction had a normal SPET study 9-28 days after the onset of symptomatology. Of five patients with haemorrhagic infarction, studied within 2 weeks, four were false-positive. Of six patients with intracranial haemorrhage, studied 9-39 days later, one showed focal 201Tl accumulation. Two further false-positive studies consisted of angioma and epidural haematoma. Finally, SPET studies were normal in six patients with definite diagnosis of (reactive) gliosis (n = 3), Binswanger's encephalopathy (n = 1), postinfectious encephalopathy (n = 1) and multiple sclerosis (n = 1). In the patient population presented, sensitivity of 201Tl SPET for supratentorial brain tumours was 71.7% and specificity was 80.9%. Clinical information and control SPET studies in combination with early, 30-min and 3- to 4-h delayed imaging may be expected to improve on these figures. On the other hand it seems that, in addition to tumoral histology, the presence of tumours in the fossa posterior and small volumes contribute to the occurrence of false-negative 201Tl SPET studies.
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PMID:Sensitivity and specificity of thallium-201 single-photon emission tomography in the functional detection and differential diagnosis of brain tumours. 795 48

The syndrome of coeliac disease, epilepsy and cerebral calcifications is a rare complication of coeliac disease. The pathological changes consist in a patchy pial angiomatosis and resemble those of Sturge-Weber syndrome, whose variant without port-wine angioma must be ruled out. Typical course includes three stages leading to a severe encephalopathy. However, the mental impairment is extremely variable. The pathogenetic process is so for unknown; main clues involve a chronic folic acid deficiency or a HLA-related autoimmune disorder. Treatment requires early gluten-free diet and anti-epileptic drug.
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PMID:[Celiac disease, cerebral calcifications and epilepsy syndrome]. 895 98

A 14-year-old girl presented with progressive paraparesis and paresthesia of one-year duration. Magnetic resonance imaging revealed a T6 vertebral hemangioma with epidural compression on the spinal cord. Following angiography and embolization, she underwent dorsal laminectomy and excision of the soft tissue component compressing the cord. In the postoperative period she had rapid worsening of lower limb power and imaging demonstrated an epidural haematoma at the operative site. The patient was taken up for urgent re-exploration and evacuation of haematoma. Postoperatively the patient complained of visual failure, headache and had multiple episodes of seizures. An magnetic resonance imaging brain showed characteristic features of posterior reversible encephalopathy syndrome (PRES) and the patient improved gradually after control of hypertension. This is the first documented case of PRES following spinal cord compression in a patient without any known risk factors. We postulate the possible mechanism involved in its pathogenesis.
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PMID:Posterior reversible encephalopathy syndrome in a case of postoperative spinal extradural haematoma: case report and review of literature. 2138 48

Monosomy 1p36 is the most common subtelomeric deletion syndrome seen in humans. Uniform features of the syndrome include early developmental delay and consequent intellectual disability, muscular hypotonia, and characteristic dysmorphic facial features. The gene-rich nature of the chromosomal band, inconsistent deletion sizes and overlapping clinical features have complicated relevant genotype-phenotype correlations. We describe four patients with isolated chromosome 1p36 deletions. All patients shared white matter abnormalities, allowing us to narrow the critical region for white matter involvement to the deletion size of up to 2.5 Mb from the telomere. We hypothesise that there might be a gene(s) responsible for myelin development in the 1p36 subtelomeric region. Other significant clinical findings were progressive spastic paraparesis, epileptic encephalopathy, various skeletal anomalies, Prader-Willi-like phenotype, neoplastic changes - a haemangioma and a benign skin tumour, and in one case, sleep myoclonus, a clinical entity not previously described in association with 1p36 monosomy. Combined with prior studies, our results suggest that the clinical features seen in monosomy 1p36 have more complex causes than a classical contiguous gene deletion syndrome.
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PMID:Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities. 2452 75

MRI and CT are important for the diagnosis and treatment of epilepsy. Diffusion-weighted images are particularly useful for detecting early changes in the brain. In this article, I reviewed radiological findings associated with seizures (reduced diffusion and swelling of hippocampus and cortex, and a reversible splenial lesion), and lesions causing epilepsy and seizures, such as congenital abnormality of the brain (holoprosencephaly, hemimegalencephaly, lissencephaly, heterotopia, polymicrogyria, schizencephaly, and focal cortical dysplasia), neurocutaneous syndromes (tuberous sclerosis and Sturge-Weber syndrome), vascular disorders (moyamoya disease/syndrome and cavernous angioma), and encephalitis/encephalopathy (herpes encephalitis, anti-NMDA receptor encephalitis, acute necrotizing encephalopathy of childhood, and acute encephalopathy with biphasic seizures and late reduced diffusion).
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PMID:[MRI and CT in the diagnosis of epilepsy]. 2491 81

Drug-resistant epilepsy, not associated with acute brain complications or central nervous system leukaemic involvement, can develop in patients treated for acute lymphocytic leukaemia during childhood. It has been postulated that this rare complication may be due to CNS oncological treatment neurotoxicity, related to intrathecal drugs, such as methotrexate, and brain radiotherapy. We report four patients who developed drug-resistant epilepsy sometime after receiving treatment for acute lymphocytic leukaemia. All patients were female and received intrathecal methotrexate. One received additional intrathecal cytarabine, and two concomitant brain radiotherapy. Two developed Lennox-Gastaut type syndrome, one multifocal epilepsy, and one focal epilepsy related to a radiotherapy-induced cavernous angioma. The development of drug-resistant epilepsy after treatment for acute lymphocytic leukaemia is a rare complication that may vary, from focal epilepsy to an epileptic encephalopathy. This may appear even years after the treatment has finished and is most likely associated with treatment-related neurotoxicity.
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PMID:Drug-resistant epilepsy after treatment for childhood acute lymphocytic leukaemia: from focal epilepsy to Lennox-Gastaut syndrome. 2793 21


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