Neuroleptic malignant syndrome in an adolescent with CYP2D6 deficiency

Butwicka, Agnieszka; Sztefko, Krystyna; Retka, Włodzimierz; Wolańczyk, Tomasz

doi:10.1007/s00431-013-2208-z

Cited by 26 publications

(17 citation statements)

References 11 publications

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“…The rigidity and hyperpyrexia in NMS contribute to muscle damage (necrosis of skeletal myocytes) that explains the elevated levels of the following biochemical parameters: CK, liver function tests (aspartate aminotransferase and alanine aminotransferase), and lactate dehydrogenase. A CK level that exceeds 1,000 IU/L is a useful indicator for NMS,82–85 moreover, the degree of elevation reflects the severity of the condition, giving a clue regarding prognosis 51. The increase can be as high as 10,000 IU/L 4,44,86–88.…”

Section: How To Approach a Suspected Case Of Nmsmentioning

confidence: 99%

Neuroleptic malignant syndrome: an easily overlooked neurologic emergency

Oruch¹,

Pryme²,

Engelsen³

et al. 2017

NDT

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Neuroleptic malignant syndrome is an unpredictable iatrogenic neurologic emergency condition, mainly arising as an idiosyncratic reaction to antipsychotic agent use. It is characterized by distinctive clinical features including a change in mental status, generalized rigidity, hyperpyrexia, and dysautonomia. It can be lethal if not diagnosed and treated properly. Mortality and morbidity attributed to this syndrome have recently declined markedly due to greater awareness, earlier diagnosis, and intensive care intervention. In most cases, the syndrome occurs as a result of a rapid increase in a dose of neuroleptic, especially one of the long-acting ones. Pathophysiology behind this syndrome is attributed to a dopamine receptor blockade inside the neurons rendered by the offending drug and excessive calcium release from the sarcoplasmic reticulum of skeletal myocytes. Laboratory tests, although not diagnostic, may assist in assessing the severity of the syndrome and also the consequent complications. The syndrome has been described in all age groups and occurs more in males than in females. Genetics appears to be central regarding the etiology of the syndrome. Stopping the use of the offending agent, cold intravenous fluids, and removal of the causative agent and its possible active metabolites is the cornerstone of treatment. Periodic observation of psychotic patients recently started on antipsychotic medications, especially those being treated with depot preparations, may aid to an early diagnosis of the syndrome and lead to early treatment.

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Section: How To Approach a Suspected Case Of Nmsmentioning

confidence: 99%

Neuroleptic malignant syndrome: an easily overlooked neurologic emergency

Oruch¹,

Pryme²,

Engelsen³

et al. 2017

NDT

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“…Pharmacogenetic markers can support therapeutic decisions in psychiatry, thus decreasing the risk of treatment failure and severe side-effects. 12 Currently, new guidelines for the use of CYP450 testing are available ( www.pharmgkb.org ). 13 Excluding disorders mimicking psychiatric conditions or causing symptoms specific to mental diseases (that is, certain neurometabolic or neurodegenerative diseases, gangliosidoses and other storage disorders, porphyrias).…”

Section: Diagnostic Genetic Tests In Psychiatry—at Presentmentioning

confidence: 99%

Genetic tests in major psychiatric disorders—integrating molecular medicine with clinical psychiatry—why is it so difficult?

Demkow

Wolańczyk

2017

Transl Psychiatry

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With the advent of post-genomic era, new technologies create extraordinary possibilities for diagnostics and personalized therapy, transforming todays’ medicine. Rooted in both medical genetics and clinical psychiatry, the paper is designed as an integrated source of information of the current and potential future application of emerging genomic technologies as diagnostic tools in psychiatry, moving beyond the classical concept of patient approach. Selected approaches are presented, starting from currently used technologies (next-generation sequencing (NGS) and microarrays), followed by newer options (reverse phenotyping). Next, we describe an old concept in a new light (endophenotypes), subsequently coming up with a sophisticated and complex approach (gene networks) ending by a nascent field (computational psychiatry). The challenges and barriers that exist to translate genomic research to real-world patient assessment are further discussed. We emphasize the view that only a paradigm shift can bring a fundamental change in psychiatric practice, allowing to disentangle the intricacies of mental diseases. All the diagnostic methods, as described, are directed at uncovering the integrity of the system including many types of relations within a complex structure. The integrative system approach offers new opportunity to connect genetic background with specific diseases entities, or concurrently, with symptoms regardless of a diagnosis. To advance the field, we propose concerted cross-disciplinary effort to provide a diagnostic platform operating at the general level of genetic pathogenesis of complex-trait psychiatric disorders rather than at the individual level of a specific disease.

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“…Галоперидол -один из наиболее часто использу-емых «типичных» антипсихотических препаратов [2], обладает мощным антипсихотическим дей-ствием, посредством блокады постсинаптических дофаминергических рецепторов, расположенных в мезолимбической системе. Прием галоперидола может сопровождаться серьезными нежелательны-ми лекарственными реакциями со стороны большей части органов и систем.…”

Section: актуальностьunclassified

“…Связь активности CYP2D6 со скоростью биотранс-формации галоперидола, была показана в ряде исследований на больных шизофренией [1,2,7]. В тоже время некоторые работы опровергают на-личие данной связи [9].…”

Section: актуальностьunclassified