The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway.

BACKGROUND AND PURPOSE: Inborn errors of metabolism (IEMs) may be an unrecognized cause of intellectual disability (ID) in adults. Knowledge and techniques for investigating IEMs have evolved rapidly; therefore adult patients with idiopathic ID may benefit from an up-to-date aetiological work-up. This review aims at establishing recommendations for investigating IEMs as a cause of ID in adults. METHODS: PubMed was searched for articles published between 2000 and 2015 regarding clinical work-up, IEMs, ID and adults. Information compiled from 61 articles is used to give practical suggestions from a clinical point of view. RESULTS: Many IEMs that cause ID are characterized by increased risk of specific somatic, neurological and psychiatric signs. Neurometabolic investigations of ID should start with a thorough medical history, clinical examination and general screening in blood. Brain imaging with magnetic resonance imaging and if possible magnetic resonance spectroscopy should also be part of the initial work-up. The aim is to detect abnormalities that give clues to a specific IEM. After the initial screening, a first tier of neurometabolic screening tests in blood and urine should be performed. If this fails to give diagnostic clues, a second tier of neurometabolic tests should be considered in order to secure that the treatable IEMs are detected. Whole exome sequencing techniques, when they become available in clinical settings, will offer new opportunities for detection of IEMs. CONCLUSION: Based on a broad review of the current literature a systematic diagnostic work-up to detect IEMs as a cause of ID in adults is suggested.

[Central nervous system stimulants and their potential risk of abuse in hyperkinetic disorders]. / Sentralstimulerende legemidler og misbrukspotensial ved hyperkinetisk forstyrrelse.

The literature on the medical use of methylphenidate for hyperkinetic disorder/AD/HD does not support that its use implies a substantial risk for substance abuse, serious complications or drug dependence. Recent pharmacokinetic studies with PET throw light on the empirical findings of low rate of abuse, as the euforigenic potential of methylphenidate taken orally appears to be very modest. Methylphenidate should be the drug of choice in the treatment of adults with hyperkinetic disorder/AD/HD. However, current substance abuse precludes use of the drug and former abuse liability and social adjustment problems are relative contraindications. There is a lack of scientific data on the use of dextroamphetamine in adults with hyperkinetic disorder/AD/HD. The drug has a higher potential for abuse than methylphenidate and should be considered as a second choice only after an individual consideration of compliance and if methylphenidate proves ineffective. Rigid control of the prescription is necessary, and a medical history of substance abuse should in our opinion preclude its use.

[Tapeworms in the brain--a current problem in Norway?]. / Bendelorm i hjernen--aktuelt problem i Norge?

Cestode infections of the human central nervous system are reviewed. These conditions represent a major health problem in many countries, and neurocysticercosis is one of the major causes of epilepsy worldwide. Neither cysticercosis nor echinococcosis are endemic to Norway. Therefore, little attention has been paid to these conditions. However, owing to increased travelling and immigration, occasional cases are found. Five cases of neurocysticercosis and one case of presumable brain echinococcosis have recently been diagnosed in our department.

Cerebral cysticercosis in Norway.

Neurocysticercosis has been rare in Scandinavia. Due to immigration from and travels to endemic areas, we expect the number of such patients to increase. We here report the first four patients from Norway with diagnosed neurocysticercosis. Three are immigrants; one is of Norwegian heritage and was probably infested during short trips to other European countries.

[Autoimmune optic neuritis]. / Autoimmun opticusneuritt.

We describe two patients with autoimmune optic neuritis. The initial symptom was severe loss of vision without clinical signs or symptoms of systemic autoimmune disease. The patients had recurrent attacks of optic neuritis in both eyes, causing permanent visual impairment despite conventional doses of corticosteroid. The only laboratory sign of autoimmune disease was a positive antinuclear antibody (ANA). These patients must be differentiated from cases with idiopathic optic neuritis or multiple sclerosis. Early diagnosis and high-dose corticosteroid therapy may be necessary, and may be successful in restoring visual function. Continued therapy with cytotoxic agents may be required.

[Spontaneous dissection of the internal carotid artery]. / Spontan disseksjon av arteria carotis interna.

Spontaneous dissection of the internal carotid artery is supposed to be a rare condition, but seems to be increasingly diagnosed. The symptoms are protean from unilateral headache, Horners syndrome, tinnitus, to cerebral ischemia and hemipareses. The condition is of unknown incidence and usually affects previously healthy persons. It is nearly always unilateral. The diagnosis is ascertained by characteristic angiographical findings. The prognosis depends on the exhibited symptoms. Three patients seen during the last year at the Department of Neurology at the National Hospital (Rikshospitalet) are presented, together with a brief survey of symptomatology, diagnosis, prognosis and treatment.

Iopentol compared with iohexol in carotid angiography. A double blind crossover test of a new non-ionic contrast medium.

A randomized double blind crossover test with iohexol and the new non-ionic contrast medium iopentol in 12 patients undergoing carotid angiography showed no difference in tolerability, EEG, ECG, neurologic status or image quality. Iopentol seems to be well suited for cerebral angiography.

[Systemic meningococcal disease in the Norwegian Army]. / Systemisk meningokokksykdom i Det norske forsvar.

An outline of aspects of meningococcal disease relevant to The Norwegian armed forces during the last years is given. Epidemiological observations are described as well as ongoing trials with the Norwegian serogroup B outer membrane complex vaccine. These trials are parallel to civilian trials in teenagers. In accordance with the new Norwegian civil guidelines for diagnosis and treatment of meningococcal disease stress is laid on early symptoms of the disease and early treatment (drawing of a blood culture and subsequent prompt parenteral penicillin therapy in the camp when probable meningococcal disease is the case and the estimated transportation time to hospital exceeds about 30 min).