Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1.

Recent developments in the diagnosis and management of neurofibromatosis.

The last decade has seen increasing awareness of the problems encountered in diagnosis and management of the different forms of neurofibromatosis.1 2 Modern techniques of clinical and laboratory investigation have been applied to the disease, culminating in 1987 with the mapping of the genes for type 1 4 and type 25 6 neurofibromatosis to chromosomes 17 and 22 respectively. In the short term th...

Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers.

The close genetic linkage between the loci for apolipoprotein CII (ApoCII) and myotonic dystrophy makes presymptomatic detection and prenatal diagnosis feasible. We report three years' service experience of providing presymptomatic detection and prenatal diagnosis for myotonic dystrophy in 99 families. Careful clinical study of older family members remains important. The introduction of new pro...

Use of MRI and audiological tests in presymptomatic diagnosis of type 2 neurofibromatosis (NF2).

At-risk persons' attitudes toward presymptomatic and prenatal testing of Huntington disease in Michigan.

One hundred fifty-five individuals at 50% risk of inheriting Huntington disease (HD) were given a questionnaire surveying their sociodemographic characteristics, experience with HD, and attitudes toward presymptomatic and prenatal testing in HD. About two-thirds (63.2%) of the persons indicated they would take a presymptomatic test even if no specific treatment was available. Although one-half ...

Bipolar mood disorder ( manic phase) in a patient with neurofibromatosis type 1 with cerebral involvement

Even though neurofibromatosis ( NF) is not a rare neurological disorder, but there is few studies regarding  the relationship between  NF and psychological disorders. A 14 year old girl with NF type 1 associated  with multiple cerebral lesions was admitted in psychiatric ward due to restlessness , hypertalktiveness aggressive behavior, and flight of idea. Psychiatric diagnosis, based on DSM IV ...