Cases Of Severe Encephalopathy Research Articles

Norovirus Causes Pediatric Encephalopathy and Status Epilepticus: A Case Report and Review of the Literature

AbstractNorovirus is a common cause of acute gastroenteritis outbreaks worldwide. The disease can present with varying degrees of neurologic impairment from benign convulsions to rare cases of severe encephalopathy. In this article, we described a case report of a North American infant who presented with norovirus gastroenteritis, status epilepticus, severe encephalopathy, and abnormal but reversible diffusion restriction changes on magnetic resonance imaging of brain.

P.44 - A case of severe encephalopathy and movement disorder due to mutations in the TRAPPC11 gene

TRAPPC11 is a component of the transport protein particle complex (TRAPPC) which mediates trafficking of vesicles from the endoplasmic reticulum to the Golgi system. Recently mutations in TRAPPC11 have been described in patients with neurological and neuromuscular diseases ranging from congenital muscular dystrophy to limb-girdle-muscular dystrophy and myopathy with ataxia and intellectual disability. Here we report the case of a 7 years old child with a severe myopathy, central nervous system involvement cause by mutations in TRAPPC11 gene. The patient presented with hypotonia, spasticity and abnormal involuntary movements (hyperkinesia and stereotypia movements ). He was born with microcephaly and showed cortical atrophy on brain MRI. He was never able to stand or walk. He has a severe cognitive delay. Serum CK levels were elevated ( 350 - 2817 UI/L nr < 190). Muscle biopsy performed at the age of 4 showed myopathic changes, reduction of cytochrome c activity in some fibres and normal expression of sarcolemmal proteins except for a mild reduction of α-dystroglycan in some fibres.The patient was included in the MYO-SEQ project and his DNA studied by Whole-exome-sequencing. Two compound heterozygous mutations were identified in the TRAPPC1 gene. One of them has been previously described (c.1287 +5G>A) and results in the skipping of exons 11 and 12 and an in frame deletion of 58 aa. The second mutation (c.3379_3380insT) has not been reported before and is predicted to cause a frameshift in the open reading frame and premature termination of the protein near the C-terminus. Each mutation has been inherited from one of the non-affected parents.TRAPPC11 protein was significantly reduced in the patient's fibroblasts which supports that the identified mutations in the TRAPPC11 gene is the disease cause. Discussion: This case expands the phentotypic and genetic spectrum of TRAPPC11 associated myopathies. TRAPPC11 should be considered in the differential diagnosis of patients with myopathy/movement disorder, elevated CK and central nervous system involvement.

Cost-effectiveness of N-butyl-2-cyanoacrylate (histoacryl) glue injections versus transjugular intrahepatic portosystemic shunt in the management of acute gastric variceal bleeding

The management of bleeding gastric varices has not been standardized. Although transjugular intrahepatic portosystemic shunt (TIPS) is used in most centers, endoscopic treatment with N-butyl-2-cyanoacrylate (cyanoacrylate) glue has recently been shown to be effective. Cost-effectiveness analyses of these methods are lacking. Methods We performed a retrospective review of patients with bleeding gastric varices treated either by TIPS or cyanoacrylate glue injection. Economic analysis was based on direct costs for a fixed financial year. The two groups were compared for a period of 6 months follow-up, to liver transplantation, or death for each patient. Results Between January, 1995 and December, 1999, 20 patients with bleeding gastric varices had TIPS; 23 patients had cyanoacrylate glue injection from January, 2000 to October, 2001. There were no significant differences between the two groups in patient characteristics, transfusion requirement, and gastric variceal anatomy. In the TIPS group, 15/20 patients had the procedure performed within 24 h of hemorrhage, and 90% of stent insertions were successful. Complications consisted of two cases of pulmonary edema, two cases of severe encephalopathy, and a 15% stenosis rate at 6 months. In the glue group, there were 3 ± 1.5 endoscopies and 2 ± 1 injections per patient, with a 96% initial hemostasis. There was one case of (glue) pulmonary embolism and one blocked front endoscope lens, which required repair. The initial rebleed rate was significantly lower in patients who had TIPS (15% vs 30%, p = 0.005). The inpatient stay was shorter in the glue group (13 ± 1 vs 18 ± 2 days, p = 0.05), but there was no difference in the overall mortality rate. The median cost within 6 months of initial gastric variceal bleeding was $4,138 ($3,009–$8,290) for glue versus $11,906 ($8,200–$16,770) for TIPS ( p < 0.0001). Conclusion In this comparable group of patients, cyanoacrylate glue injection was more cost effective than TIPS in the management of acute gastric variceal bleeding. A prospective, randomized trial would be required to confirm our analysis.

Comparison of portacaval shunts in patients with alcoholic and nonalcoholic liver disease

A series of 46 patients with alcoholic and nonalcoholic cirrhosis and who underwent portasystemic decompressive procedures were analyzed and compared. The two groups were similar in age and degree of dysfunction according to liver function tests and functional classification. For both emergency and elective procedures operative mortality was significantly less in the nonalcoholic group: For emergency procedures it was 20% in the nonalcoholic group, 57% in the alcoholic; for elective procedures it was 5.3% in the nonalcoholic, 20% in the alcoholic. Long-term survival and frequency of severe encephalopathy were nearly the same for both groups although 60-year-old or older nonalcoholics did better, with no operative deaths and only 1 case of severe encephalopathy. The older patients with alcoholic cirrhosis faired poorly—4 of 5 died of hepatic failure, 2 during the operative period. Three patients had active chronic hepatitis and cirrhosis. One died during the operative period; the other 2 have suffered from chronic encephalopathy requiring continuous medical therapy for control.