Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 2-year-old boy suffered aphasia, hypotonia, dystonia, and loss of activity and spontaneous speech during an active stage of juvenile rheumatoid arthritis with pericarditis, fever, anemia, and a high antinuclear antibody titer. These neurologic signs slowly improved with corticosteroid treatment but fluctuated over 1 year. The neuroimaging studies revealed irregular mass lesions in the basal ganglia bilaterally mainly involving the globus pallidus. They gradually decreased in size and almost disappeared after 1 year. A stereotactic brain biopsy revealed a slight proliferation of astrocytes. Chorioretinitis was also observed during the clinical course. A chronic inflammatory process involving cerebral vessels was suspected, although angiography did not demonstrate cerebral vasculitis. The possibility of central nervous system lymphoma could not be eliminated. The type of aphasia and the relation to the lesion sites are discussed.
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PMID:Basal ganglia mass lesions in juvenile rheumatoid arthritis. 205 56

Hemispherectomy is required in most cases of hemimegalencephaly in order to control epilepsy refractory to medical treatment. Although there is a general agreement on the effectiveness of the procedure in controlling the seizure disorder, the choice of the surgical technique is still a subject of debate. In particular, anatomical hemispherectomy is blamed to be associated with a higher incidence of surgical complications, namely hydrocephalus and hemosiderosis, than other less ablative operations such as functional hemispherectomies. A series of 15 children with hemimegalencephaly, who had undergone anatomical hemispherectomy (11 cases), functional hemispherectomy (2 cases), and hemidecortication (2 cases) at the Pediatric Neurosurgery Section, Catholic University Medical School, Rome, is reported. Twelve of these patients presented with one or more complications in their postoperative course. Temporary complications, which resolved spontaneously or following medical therapy, included fever, wound breakdown, worsening of preoperative motor deficit, unilateral third cranial nerve deficit, dystonia, and anemia. In 8 patients, postoperative complications led to a second surgical procedure. A CSF shunt was necessary in 5 children, to control a secondary hydrocephalus. Two subjects underwent a toilette of the residual cavity because of persisting chemical abnormalities in CSF parameters. In a child a cranioplasty procedure was necessary as a consequence of an infection of the hemicranial bone flap. There was no apparent correlation between the rate and the type of complications with a specific surgical procedure. On the other hand, the age factor appeared to play an important role in the occurrence of secondary hydrocephalus, as all 5 children with this complication were less than 9 months old at the time of the hemispherectomy. Surgical mortality was nil in this series.
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PMID:Hemimegalencephaly and intractable epilepsy: complications of hemispherectomy and their correlations with the surgical technique. A report on 15 cases. 1112 37

Although still controversial, iron deficiency has been indicated as one of the risk factors for developing neuroleptic-induced extrapyramidal symptoms (EPSs), including akathisia, dystonia, and neuroleptic malignant syndrome. Here we report our experience of iron supplementation and alternating neuroleptics for treating Parkinsonism in a schizophrenic female patient having severe iron deficient anemia.
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PMID:Parkinsonism induced by atypical neuroleptics in a patient with severe iron deficiency. 1502 28

Fixed dystonic posturing of the hands and feet may complicate advanced Parkinson's disease (PD) and add considerably to the functional disability of patients. We report 3 PD patients who developed lower limb fixed dystonic posturing after a brief period of immobilization (<2 months). Two patients had been immobilized after hip and back injuries and one for transfusion therapy for anemia. This fixed dystonic posturing resulted in severe functional disability. Oral medications failed to control symptoms. Of two patients who received botulinum toxin injections only one experienced benefit. Orthopedic surgery resulted in clinical improvement with increased mobility and independence in one patient. Post-immobilization dystonia of lower limbs in PD is resistant to medical treatment and leads to significant functional disability. Botulinum toxin may provide partial relief in some cases and orthopedic surgery can also be considered.
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PMID:Lower limb post-immobilization dystonia in Parkinson's disease. 1619 57

Leigh syndrome (also termed subacute, necrotizing encephalopathy) is a devastating neurodegenerative disorder, characterized by almost identical brain changes, e.g., focal, bilaterally symmetric lesions, particularly in the basal ganglia, thalamus, and brainstem, but with considerable clinical and genetic heterogeneity. Clinically, Leigh syndrome is characterized by a wide variety of abnormalities, from severe neurologic problems to a near absence of abnormalities. Most frequently the central nervous system is affected, with psychomotor retardation, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. Some patients also present with peripheral nervous system involvement, including polyneuropathy or myopathy, or non-neurologic abnormalities, e.g., diabetes, short stature, hypertrichosis, cardiomyopathy, anemia, renal failure, vomiting, or diarrhea (Leigh-like syndrome). In the majority of cases, onset is in early childhood, but in a small number of cases, adults are affected. In the majority of cases, dysfunction of the respiratory chain (particularly complexes I, II, IV, or V), of coenzyme Q, or of the pyruvate dehydrogenase complex are responsible for the disease. Associated mutations affect genes of the mitochondrial or nuclear genome. Leigh syndrome and Leigh-like syndrome are the mitochondrial disorders with the largest genetic heterogeneity.
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PMID:Leigh and Leigh-like syndrome in children and adults. 1880 59

The dystonias comprise a heterogeneous group of movement disorders. In contrast to the frequent sporadic forms, a variety of rare familial forms are caused by genetic mutations with mendelian inheritance. In recent years, significant progress has been made with regard to the identification of genes causing dystonia, and to the molecular pathophysiology underlying dystonic symptoms. Currently, 18 gene loci have been described causing primary dystonia, dystonia-plus syndromes or paroxysmal dystonia. The most frequent form of inherited dystonia, according to current knowledge, is early-onset generalized DYT1 dystonia, caused by a deletion of three basepairs, GAG, in the DYT1 (TOR1A) gene. It is thought that the protein encoded by this gene, torsinA, participates in association of the endoplasmatic reticulum and the nuclear envelope with the cytoskeleton and hereby might influence the reaction of cells to various stresses and/or the development of specific neuronal populations involved in movement control in the brain. Other genes which have only recently been identified include: THAP1, causing adolescent-onset primary dystonia of mixed type (DYT6); ATP1A3, responsible for Rapid-Onset Dystonia-Parkinsonism (RDP, DYT12); PRKRA, causing young-onset dystonia-parkinsonism (DYT16); and SLC2A1, causing paroxysmal exertion-induced dystonia with haemolytic anemia (DYT18). Further, five other loci for primary dystonia (DYT2, DYT4, DYT7, DYT13 and DYT17) have been identified, for which the causative genes remain to be discovered.
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PMID:[Genetics of dystonia]. 1968 89

Brain tissues available for examination in the present study were obtained from 30 subjects who died from the blood loss following injuries to blood vessels and internal organs inflicted by sharp objects. The study revealed variable character of tanatogenesis induced by acute blood loss and anemia. Tanatogenesis associated with injuries to the heart and major blood vessels is most likely due to the deficiency of blood in the microcirculatory system developing in the terminal period. The main tanatogenic factors in subjects with multiple injuries to peripheral vessels are vascular dystonia and abnormal rheological properties of blood.
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PMID:[Forensic medical assessment of vascular and neuronal lesions in the brain associated with acute blood loss and anemia]. 2039 88

A 26-year-old man developed a movement disorder characterised by bradyphrenia, bradykinesia, rigidity, tremor and dystonia, several years after having been shot by a gun in the hip. Laboratory investigations revealed anaemia and porphyria. The authors demonstrate that his neurological condition was a delayed manifestation of lead toxicity, caused by slow absorption of lead from persisting bullet fragments in the hip joint. Treatment with excision of the femoral head and debridement of the hip followed by a total hip, in combination with chelating therapy, led to a remarkable remission.
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PMID:A toxic shot from the hip. 2060 67

Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous for SUCLA2 mutations, c.985A>G (p.M329V) and c.920C>T (p.A307V), with parents confirmed as carriers of each mutation. We developed a new LC-MS/MS based enzyme assay to demonstrate the decreased SCS activity in the siblings with this unique genotype. Both siblings shared bilateral progressive hearing loss, encephalopathy, global developmental delay, generalized myopathy, and dystonia with choreoathetosis. Prior to diagnosis and because of lactic acidosis and low activity of muscle pyruvate dehydrogenase complex (PDC), sibling 1 (S1) was placed on dichloroacetate, while sibling 2 (S2) was on a ketogenic diet. S1 developed severe cyclic vomiting refractory to therapy, while S2 developed Leigh syndrome, severe GI dysmotility, intermittent anemia, hypogammaglobulinemia and eventually succumbed to his disorder. The mitochondrial DNA contents in skeletal muscle (SM) were normal in both siblings. Pyruvate dehydrogenase complex, ketoglutarate dehydrogenase complex, and several mitochondrial electron transport chain (ETC) activities were low or at the low end of the reference range in frozen SM from S1 and/or S2. In contrast, activities of PDC, other mitochondrial enzymes of pyruvate metabolism, ETC and, integrated oxidative phosphorylation, in skin fibroblasts were not significantly impaired. Although we show that propionyl-CoA inhibits PDC, it does not appear to account for decreased PDC activity in SM. A better understanding of the mechanisms of phenotypic variability and the etiology for tissue-specific secondary deficiencies of mitochondrial enzymes of oxidative metabolism, and independently mitochondrial DNA depletion (common in other cases of A-SCS deficiency), is needed given the implications for control of lactic acidosis and possible clinical management.
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PMID:Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. 2791 98

Bilateral basal ganglia lesions are a common non-specific finding seen in many diseases. One of the differential diagnoses for it, in a child, is kernicterus occurring due to hyperbilirubinemia. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common cause of severe hyperbilirubinemia. A 1-year old child presented to the hospital with history of generalized dystonia in the previous 3 days. MRI showed evidence of symmetrical lesions in bilateral globus pallidus, which were hyperintense on T2/FLAIR and isointense on T1. Patient's blood test revealed G6PD deficiency. Hence, a diagnosis of G6PD deficiency leading to kernicterus was made. In a child, the diseases that may affect the basal ganglia symmetrically and bilaterally include kernicterus, hypoxia, carbon monoxide poisoning, hypoglycemia, inherited metabolic and dysmyelinating disorders like Leigh disorder, Canavan and Krabbe, Neurofibromatosis, Herpes encephalitis, congenital HIV infection, manganese poisoning and extrapontine myelinolysis. Important causes of kernicterus are Rh incompatibility, ABO incompatibility, sepsis, hemolytic anaemia and G6PD deficiency. G6PD deficiency leading to kernicterus should be considered a differential diagnosis of bilateral basal ganglia lesions in children. Proper elicitation of history with appropriate blood biochemical tests will help in arriving at a proper diagnosis.
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PMID:B/L Basal Ganglia Lesions in a Child Leading to a Diagnosis of Glucose-6-Phosphate Dehydrogenase Deficiency. 2988 84


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