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Biomedical subjects

Magnhild Rasmussen

Publications and source records attributed to Magnhild Rasmussen.

4 recordsLinked to original sources

An extensive long term follow-up of a cohort of patients with hypoplasia of the left heart.

We report the results of follow-up of the complete cohort of Norwegian children born in the period from 1987 through 1998 in whom there was the intention to treat surgically hypoplasia of the left heart using the Norwood sequence of operations. Of the 54 children, 21 are alive. Of these, 15 have been extensively studied, while the medical state of all the remaining survivors is known from reports from other hospitals. Of the survivors, the majority have reasonably acceptable cardiac and haemodynamic function, but significant neurological and neuropsychological morbidity is identified within the group as a whole, which requires special attention from qualified personnel of various kinds.

Child↗

[Infantile spasms].

BACKGROUND: Infantile spasms are an epileptic manifestation typical of infancy. The spasms may be associated with a wide spectrum of brain abnormalities and diseases, but coexisting pathology is not always found. Prognosis depends to a substantial extent on the underlying condition. Most of the traditional antiepileptics are not effective. Adrenocorticotropic hormone (ACTH) and more recently vigabatrin are the most common first-line medications. MATERIAL AND METHODS: We have performed a literature search mainly in the PubMed database on the treatment of infantile spasms. The results are discussed in relation to Norwegian practice, for which the Norwegian Paediatric Society's recommendations are the main guidelines. RESULTS/INTERPRETATION: Vigabatrin has emerged as an accepted first-line medication for infantile spasms in Norway and many other countries, although it has not been shown that this therapy in general is as effective as ACTH/steroids. Well-designed treatment studies have been difficult to carry out. Until the final results of such ongoing studies should give different signals, it seems reasonable to continue to give vigabatrin before hormones. Oral steroids can probably be tried before ACTH, although a firm conclusion about this has yet to be drawn.

Adrenocorticotropic Hormone↗

[Pyridoxine-dependent seizures].

BACKGROUND: Pyridoxine-dependent seizures is an autosomal, recessively inherited inborn error of metabolism with recurrent long-lasting seizures with onset usually in infancy, but also up to three years of age. The seizures are resistant to conventional anticonvulsants. The condition ends fatally if diagnosis and administration of pyridoxine (vitamin B6 ) in pharmacological doses is delayed too long. MATERIAL AND METHODS: A ten-year-old girl who we believe is affected with this condition is presented. A review of the condition based on relevant literature is given. RESULTS AND INTERPRETATION: The disorder is rare, but may be underdiagnosed. This case report highlights the serious convulsive condition, the problems in diagnosis and treatment, the delayed development before diagnosis and a very positive development during pyridoxine treatment. The condition is variable in clinical expression, and a variety of clinical seizure types may be seen. Diagnosis is clinical and based on response to pyridoxine administration. The pyridoxine dose needed varies, and the aim of treatment is seizure control as well as optimal intellectual development. Prognosis is variable; many are retarded, especially in their speech development. A gene on chromosome 5 is linked to the disorder, but the gene and its product are unknown.

Child↗