1/120. Long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency neuropathy: response to cod liver oil.Docosahexaenoic acid (DHA) deficiency has recently been documented in several children with long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency (LCHADD). We studied a 13-year-old boy with LCHADD who had limb girdle myopathy, recurrent myoglobinuria, and progressive sensorimotor axonopathy with demyelination. At 11 years of age, he was started on cod liver oil extract, high in DHA content. Over 12 months, he demonstrated a marked clinical recovery. Nerve conduction studies (NCS) demonstrated reappearance of previously absent posterior tibial and peroneal nerve responses and the amplitudes on motor ulnar and median NCS markedly increased from 7- to 14-fold, respectively.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/120. 3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease.3-Methylglutaconic (3-MGC) aciduria with 3-methylglutaconyl-CoA hydratase deficiency (3-MGC aciduria type I) is a rare inherited metabolic disease of L-leucine catabolism. We describe a 9-month-old Japanese boy with this disorder who showed progressive neurological impairments presented as quadriplegia, athetoid movements and severe psychomotor retardation from 4 months of age. This finding indicates the existence of clinical heterogeneity in 3-MGC aciduria type I, suggesting it may present as a neurometabolic disease.- - - - - - - - - - ranking = 0.16666666666667keywords = deficiency (Clic here for more details about this article) |
3/120. Prolonged severe 5-fluorouracil-associated neurotoxicity in a patient with dihydropyrimidine dehydrogenase deficiency.5-fluorouracil (5-FU) is an analogue of pyrimidine nucleosides that is widely used in the treatment of head and neck, breast, ovarian, and colon cancer. stomatitis, diarrhea, dermatitis, and myelosuppression are the main toxicities of 5-FU. A less frequent side effect that is becoming more recognized is neurologic toxicity. Dihydropyrimidine dehydrogenase (DPD) is the rate-limiting enzyme in the catabolism of 5-FU. DPD deficiency follows an autosomal recessive pattern of inheritance, and its prevalence is estimated to be 3%. Cancer patients who are receiving 5-FU treatment and are DPD deficient can develop severe side effects. The neurologic toxicity can vary from being mild to severe and prolonged. We describe the side effects of 5-FU in a colon cancer patient who suffered severe mucositis, desquamating dermatitis, prolonged myelosuppression, and neurologic toxicity that required admission to the intensive care unit. The patient remained hospitalized for 3 months. Recovery from the side effects was complete 4 months after the last 5-FU treatment. Subsequent testing revealed that this patient has an extremely low level of DPD activity (0.015 nmol/min/mg protein; mean, 0.189 nmol/min/mg protein). Because neurologic toxicity is becoming more recognized and DPD affects the catabolism of 5-FU, we discuss management issues and the use of new DPD inhibitors. We also discuss whether screening for DPD deficiency is warranted to identify patients at risk for severe toxicities from 5-FU treatment.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
4/120. Successful bone marrow transplantation in a case of Griscelli disease which presented in accelerated phase with neurological involvement.Griscelli disease (GD) is a rare disorder characterized by pigment dilution, immunodeficiency and occurrence of accelerated phase consisting of hemophagocytosis, pancytopenia and neurological manifestations. Allogeneic BMT in the early period is an important modality of treatment for GD. We carried out an alloBMT from an HLA-identical sibling donor on a 4-year-old girl who presented in accelerated phase with neurological manifestations including convulsions, strabismus, severe dysarthria, ataxia and clonus. She was treated with etoposide, methylprednisolone and intrathecal methotrexate for 8 weeks and underwent alloBMT after receiving a conditioning regimen including ATG (rabbit, 10 mg/kg x 5 days), Bu/Cy. 8 x 108/kg nucleated bone marrow cells were given. Engraftment occurred early and the post-BMT period was uneventful. Currently, she is at 18 months post BMT with sustained engraftment and with a normal neurological examination except for minimal clonus. Long-term follow-up will determine the prognosis regarding the neurological findings.- - - - - - - - - - ranking = 0.16666666666667keywords = deficiency (Clic here for more details about this article) |
5/120. Isolated sulfite oxidase deficiency: review of two cases in one family.OBJECTIVE: The authors describe two cases of isolated sulfite oxidase deficiency found in one family. This is a rare autosomal-recessive disorder presenting at birth with seizures, severe neurologic disease, and ectopia lentis. It can be easily missed with metabolic screening; however, the finding of lens subluxation stresses the importance of ophthalmic assessment in making the diagnosis. DESIGN: Two observational case reports. INTERVENTION/methods: Ophthalmic assessment, biochemical assay for specific urinary and plasma metabolites, magnetic resonance imaging, and gene sequencing were used to make the diagnosis of the disease in the proband. The diagnosis was subsequently recognized in a previously affected sibling after the postmortem neuropathology was reviewed. mutation analysis was performed on cultured fibroblasts from the proband to identify and categorize the specific mutation responsible for the disease in the family. From this, future prenatal detection of sulfite oxidase deficiency is possible. MAIN OUTCOME MEASURES: The diagnosis of sulfite oxidase deficiency was established in this family, enabling appropriate genetic counseling and recurrence risk estimation. RESULTS: Point mutations were found in both alleles of the sulfite oxidase gene in the proband. The first is a 623C-->A mutation, which predicts an A208D substitution, and the second is a 1109C-->A, which predicts an S370Y substitution. Both residues A208D and S370Y are critical for sulfite oxidase activity. CONCLUSIONS: Isolated sulfite oxidase deficiency is a rare heritable disease for which mutation analysis can allow accurate prenatal screening. It often is difficult to diagnose by clinical presentation alone, but the critical finding of lens subluxation accompanying seizures and diffuse neurologic disease in an infant should alert the physician to the diagnosis.- - - - - - - - - - ranking = 1.3333333333333keywords = deficiency (Clic here for more details about this article) |
6/120. biotinidase deficiency--a treatable entity.biotinidase deficiency is a well recognised treatable cause of a wide spectrum of progressive neurological symptoms. Recent reports have stressed the need to screen children with early onset of seizures, encephalopathy, neurodevelopmental delay, skin rash and alopecia. Enzyme estimation remains the conclusive test. We present a patient with biotinidase deficiency suspected on the above clinical grounds and diagnosed on the basis of metabolic acidosis, raised blood lactate, ketonuria and positive dinitrophenylhydrazine (DNPH) test and confirmed on urinary organic acid profile. Supplementation with biotin resulted in marked clinical improvement and normalisation of metabolic parameters. Thus the clinician should be alert to simple clinical pointers which aid in early diagnosis of these disorders.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
7/120. Neurological complications and pleural lavage with a fibrinolytic agent. A two-case report.We report on an unusual, albeit potentially severe, complication of the performance of a pleural lavage with streptokinase in two patients demonstrating parapneumonic pleural effusion. During the time they underwent repeated pleural lavages with saline and streptokinase, they suddenly demonstrated focal neurological signs. As a result of early diagnosis and emergency hyperbaric oxygenation, both patients recovered without delayed sequelae. air embolism is a potentially severe complication which can occur during pleural lavage. Whether streptokinase increases the risk of opening a latent vascular breach cannot be definitely established, but clinicians should be aware of this risk. In this context, the onset of acute focal neurological signs should suggest the possibility of air embolism and lead to the transfer of the patient close to a hyperbaric facility within a few hours.- - - - - - - - - - ranking = 0.0048642808483572keywords = oxygen (Clic here for more details about this article) |
8/120. Cerebral arterial gas embolism following diagnostic bronchoscopy: delayed treatment with hyperbaric oxygen.PURPOSE: To describe a clinical scenario consistent with the diagnosis of cerebral arterial gas embolism (CAGE) acquired during an outpatient bronchoscopy. Our discussion explores the mechanisms and diagnosis of CAGE and the role of hyperbaric oxygen therapy. CLINICAL FEATURES: A diagnostic bronchoscopy was performed on a 70-yr-old man who had had a lobectomy for bronchogenic carcinoma three months earlier. During the direct insufflation of oxygen into the right middle lobe bronchus, the patient became unresponsive and developed subcutaneous emphysema. Immediately, an endotracheal tube and bilateral chest tubes were placed with resultant improvement in his oxygen saturation. However, he remained unresponsive with extensor and flexor responses to pain. Later, in the intensive care unit, he exhibited seizure activity requiring anticonvulsant therapy. Sedation was utilized only briefly to facilitate controlled ventilation. Investigations revealed a negative computerized tomography (CT) scan of the head, a normal cerebral spinal fluid examination, a CT chest that showed evidence of barotrauma, and an abnormal electroencephalogram. Fifty-two hours after the event, he was treated for presumed CAGE with hyperbaric oxygen using a modified united states Navy Table 6. Twelve hours later he had regained consciousness and was extubated. He underwent two more hyperbaric treatments and was discharged from hospital one week after the event, fully recovered. CONCLUSION: A patient with presumed CAGE made a complete recovery following treatment with hyperbaric oxygen therapy even though it was initiated after a significant time delay.- - - - - - - - - - ranking = 0.043778527635215keywords = oxygen (Clic here for more details about this article) |
9/120. Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency.We report the first case of isolated biotin resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency in argentina. The diagnosis was established at 14 months of age by urinary organic-acid analysis and confirmed by enzyme assay in fibroblasts. The patient suffered from severe psychomotor retardation, hypotonia, areflexia, and failure to thrive, and died unexpectedly at 3 years 4 months of life. brain MRI at 14 months showed signals of the white matter on cerebral T2-weighted, which were indicative of confluent and multiple foci of leukodystrophy, a pattern not previously described in this entity. In addition, high levels of oxypurines were detected in cerebrospinal fluid. This might be related to energetic consequences of the enzyme deficiency in the brain. This case extends the phenotype of isolated MCC deficiency in infancy and suggests this entity should be considered to be one of the possible causes of "metabolic leukodystrophies."- - - - - - - - - - ranking = 1.1666666666667keywords = deficiency (Clic here for more details about this article) |
10/120. Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency.Children with a deficiency of laminin alpha 2 chain generally show an involvement of skeletal muscles, cerebral white matter and peripheral nerves. Among these patients, however, there is increasing evidence of molecular and phenotype heterogeneity. We report a 19-year-old girl with distal weakness, mental retardation and refractory epilepsy in whom elevated serum CK suggested a myopathy. Electrophysiological and neuroimaging examinations as well as studies of nerve and muscle biopsies were performed. Nerve conduction velocities were definitely reduced and brain MRI demonstrated a diffuse white matter involvement. The muscle biopsy showed both myopathic and neurogenic features. By immunohistochemistry laminin alpha 2 chain was mildly reduced in muscle and virtually absent in peripheral nerve. Teasing of sural nerve fibers showed a 'globular' hypermyelination characteristically located at the paranodal regions. A mild loss of myelinated fibers without any demyelination-remyelination changes was found. Haplotype analysis suggested linkage to the LAMA2 locus. Our case is peculiar as the putative mutation probably affects the expression of laminin alpha 2 chain is affected in a tissue specific manner: the protein is virtually absent in peripheral nerves but only mildly reduced in skeletal muscle. As to the disorder of nerve myelination, an absence or abnormal functioning of laminin alpha 2 chain can alter the feed-back control during myelinogenesis, leading to an over-ensheathment of axon. Alternatively, a compensatory up-regulation of other laminins can induce the hyperproduction of myelin sheaths. This case provides new evidence of the phenotypical heterogeneity of the LAMA2 gene and sheds light in understanding the role of laminin alpha 2 chain in myelination of peripheral nerve.- - - - - - - - - - ranking = 0.83333333333333keywords = deficiency (Clic here for more details about this article) |
| | Next -> |