Severe Acute Subdural Hemorrhages in a Patient with Glutaric Acidemia Type 1 under Recommended Treatment.

Glutaric acidemia type 1 is a rare autosomal recessive disease caused by a deficiency of glutaryl-CoA dehydrogenase. Previous studies have reported subdural hemorrhage in untreated patients with glutaric acidemia type 1. However, there is only one report of severe acute subdural hemorrhage after minor head trauma in a patient with glutaric acidemia type 1 under guideline-recommended treatment. We report a second case of life-threatening severe acute subdural hemorrhage after a minor head trauma in a patient with glutaric acidemia type 1. This patient was previously diagnosed by newborn screening, and treatment began at 25 days of age. Early diagnosis and guideline-recommended treatment produce better outcomes for patients with glutaric acidemia type 1, although the risk of subdural hemorrhage remains.

[Parathyroid gland carcinoma with postoperative encephalopathy]. / Nebenschilddrüsencarcinom in Zusammenhang mit einem postoperativen Durchgangssyndrom.

We present a 78-year-old patient who suffered from symptomatic transitory psychotic syndrome after laparotomy. Persisting somnolence appeared with cardiopulmonary decompensation and gastrointestinal atony. Due to prolonged hypercalcemia primary hyperparathyreoidism was diagnosed. Resection of a large carcinoma of the parathyroids led to continuous clinical improvement.

Cellular and molecular neurosurgery: pathways from concept to reality--part I: target disorders and concept approaches to gene therapy of the central nervous system.

Recent advances in cellular and molecular biology and better understanding of genetic and biochemical bases of different central nervous system (CNS) disorders have made gene therapy of the CNS a realistic goal. Concept approaches for gene therapy of CNS disorders are reviewed and include the following: 1) gene replacement with a single normal allele to correct the inherited global neurodegenerative disorders, such as enzyme deficiencies; 2) brain repair to restore the function of a particular subset of cells that were lost because of a neurodegenerative process; 3) gene therapy of brain tumors; and 4) gene therapy of stroke. Techniques of viral vector-mediated CNS transfer of a therapeutic gene, transplantation of genetically modified cells, fetal embryonic implantation and/or implantation of genetically engineered neural progenitor cells, and production of a specific enzyme, neurotransmitter, and/or growth factor are discussed with respect to the therapeutic potential for global and localized CNS neurodegenerative disorders and stroke. Transfection of the CNS tumor cells with the drug susceptibility ("suicide") gene and/or "toxic" gene and antisense strategies and a concept of adoptive immunotherapy of brain tumors are also discussed. Other approaches, such as transfer of drug-resistant genes and monoclonal antibody gene transfer, are briefly discussed. In addition to summarizing current principles of gene therapy for several groups of CNS disorders, the issues that remain to be resolved in clinical reality, such as delivery of the genetic material and regulation of the cellular expression of the transgene, and the negatives associated with the concepts of gene therapy, such as transient gene expression, toxicity of viral proteins, drawbacks of antisense therapy, and the problem of immune response to the transfected protein, have been also identified.

Cervical cord compression and severe hydrocephalus in a child with Saudi variant of multiple sulfatase deficiency. Report of case.

We report a 2.5-year-old boy with Saudi variant of multiple sulfatase deficiency (MSD or Austin's disease). He presented with the features of cervical cord compression and a severe form of hydrocephalus. The former was due to a thickened posterior arch of the atlas and the latter from a narrow foramen magnum and meningeal thickening. Decompression of the cord was achieved by removal of the posterior margin of the foramen magnum and posterior arch of the atlas, and followed by a duroplasty. At a later date, ventricular decompression was achieved by insertion of a ventricular-peritoneal shunt. NMR did not demonstrate white matter changes in the brain. In this regard the reported case differs from the earlier description of the Saudi Variant of MSD.