[Cornelia de Lange syndrome and the woman behind the syndrome]. / Cornelia de Langes syndrom og kvinnen bak syndromet.

The phrase syndrome indicates that certain symptoms and signs run together as a clinical entity. Collectively they characterize a particular disease or abnormal condition. Some syndromes are rare, but it is important to recognize them. Correct and early diagnosis is important for the individuals concerned, and for their families. Cornelia de Lange syndrome in its classical form is a syndrome of several congenital abnormalities and mental retardation. When not fully developed the syndrome may cause diagnostic problems. The authors discuss some biographical data about Cornelia de Lange and some matters concerning the syndrome.

[Rett syndrome and the adult patient]. / Retts syndrom og den voksne pasient.

A 29 year-old woman was diagnosed as suffering from Rett's syndrome on the bases of clinical examination and a good description of the patient's early development in childhood and adolescence. The woman showed all the typical clinical symptoms and signs of Rett's syndrome. In particular, she had an aggressive and difficult epilepsy. Some of the typical symptoms and signs in childhood Rett's syndrome are less prominent when the patients become adults. It is important that doctors consider Rett's syndrome as a possible cause of mental retardation and multifunctional disability in women.

[Down's syndrome. Medical care and rehabilitation]. / Downs syndrom. Medisinsk oppfølging og habilitering.

The Norwegian Government has decided to reform the care of the mentally retarded by placing the responsibility for medical and social care with the local authorities. From 1 January 1991 the mentally retarded are to be integrated into the community. Persons with Down syndrome constitute 20-30% of the mentally retarded in institutions. The syndrome is the most common single cause of mental retardation. It represent both a medical challenge and a challenge in regard to home support, work, leisure activities and habilitation. Habilitation means identifying the fundamental deficiencies, incorporating this knowledge into plans for treatment and evaluating progress in social functioning and individual capacity. This presentation emphasizes clinically important information about the syndrome and medical complications both in the early stage of life, and among youths and adults in particular. Owing to difficulties in communication, there are often diagnostic problems. However, when recognized, many of the complications can be treated effectively.

[Prosopagnosia. A rare disorder of visual perception]. / Prosopagnosi. En sjelden visuell persepsjonssvikt.

Prosopagnosia is a rare neurological sign, characterized by disturbance of recognition of faces. It is important to remember that prosopagnosia can appear as a result of a brain injury, and as such may be a major disability to the patient. We report a case of a nine year old boy with prosopagnosia due to brain injury at the age of 18 months. The main injury was localized to the boy's left hemisphere, but his right hemisphere was probably also affected. Most post mortem examinations of patients suffering from prosopagnosia show bilateral or right-sided parietal, temporal and occipetal pathological changes.

[The pill and cerebrovascular disease]. / P-pillen og cerebrovaskulaer sykdom.

PIP: During 1982, 7 female patients were admitted to the Department of Neurology, The National Hospital, Oslo, with cerebral infarction (6 patients) or transitory ischemic attacks (1 patient). These patients were remarkable in that they had similar risk factors for cerebrovascular disease--use of estrogen preparations (7 patients) and smoking (6 patients). These case reports suggest that the combination of estrogen preparations and smoking may have a possible potentiating effect in increasing the risk of cerebrovascular disease. (author's modified)^ieng