keyword
https://read.qxmd.com/read/32173091/coexistence-of-guanidinoacetate-methyltransferase-gamt-deficiency-and-neuroleptic-malignant-syndrome-without-creatine-kinase-elevation
#1
Müge Ayanoğlu, Elif Korgali, Taner Sezer, Halil Ibrahim Aydin, Fatma Müjgan Sönmez
We describe the first child with guanidinoacetate methyltransferase (GAMT) deficiency who developed neuroleptic malignant syndrome (NMS) after the treatment of risperidone without elevated creatine kinase (CK) levels. The patient presented with lethargy, hyperthermia, generalized tremor and rigidity with normal serum CK levels. After cessation of risperidone and adding clonezepam to the supportive treatment, symptoms of NMS were ameliorated. We conclude that although serum CK elevation is a useful indicator for the early detection of NMS, normal serum CK levels may be seen during the NMS course in the presence of GAMT deficiency...
May 2020: Brain & Development
https://read.qxmd.com/read/19863257/sporadic-creutzfeldt-jakob-disease-a-review
#2
REVIEW
Stuti Sharma, Madhurima Mukherjee, Vivekananda Kedage, Manjunatha S Muttigi, Anjali Rao, Suryanarayana Rao
The objective is to study a patient with sporadic Creutzfeldt-Jakob disease (CJD). The patient, a 70-year-old woman with a history spanning over 1 month, with acute onset, progressive abnormal behavior, and cognitive decline with generalized asymmetrical myoclonic jerking, startle phenomenon, and cortical blindness, was referred to the hospital. On observation of clinical symptoms, metabolic and hematological investigations, MRI (magnetic resonance imaging), and EEG (electroencephalogram) were done. The clinical symptoms, MRI, and diagnostic EEG were suggestive of sporadic CJD...
2009: International Journal of Neuroscience
https://read.qxmd.com/read/19540407/-abuse-of-alcohol-and-benzodiazepine-during-substitution-therapy-in-heroin-addicts-a-review-of-the-literature
#3
REVIEW
X Laqueille, C Launay, A Dervaux, M Kanit
INTRODUCTION: In spite of its seriousness, dependence on alcohol and benzodiazepines during substitution treatment are poorly documented. Its frequency is nonetheless significant. According to studies, between one and two thirds of patients are affected. This consumption is under verbalized by patients and underestimated by carers. In one study, where the average diazepam doses were from 40 to 45 mg per day, 30% of the patients were taking 70 to 300 mg per day, two thirds having experimented with a fixed dose of 100mg...
June 2009: L'Encéphale
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