Carnitine palmitoyl transferase type 2 defi ciency -case report and review of the literature

ABSTRACT -Carnitine palmitoyl transferase (CPT) defi ciency is a relatively rare disease of fatty acid oxidation inherited autosomal recessively. CPT2 defi ciency presents frequently in adults with rhabdomyolysis and myoglobinuria triggered most oft en by prolonged exercise. Carnitine is required for the transfer of longchain fatty acids from the cytoplasm to the mitochondrial matrix for their oxidation. Strenuous exercise is known to increase serum creatine kinase (CK) in nearly all healthy people and can be elevated oft en over ten times the upper limit of normal. Rhabdomyolysis can be of inherited etiology (disorders of glycogenolysis, fatty acid oxidation, mitochondrial respiratory chain pathways) or acquired (trauma, compartment syndrome, drugs, caff eine, toxins, infections, infl ammatory muscle diseases, and exertion). Here we present a female patient with CPT2 defi ciency diagnosed aft er recurrent rhabdomyolysis upon physical exertion and carbohydrate-restrictive diet. With the implementation of dietary measures and lifestyle changes that included more frequent but shorter interval exercise and avoidance of inappropriate physical exertion, the patient had a normal neurological status with only slightly elevated CK levels. Th is example illustrates the importance of careful monitoring of patients with increased levels of CK, even when there are no evident clinical, histopathologic or electromyoneurography (EMNG) indicators of myopathy

Factors Contributing to the Reduction of Pain during Electromyography and Nerve Conduction Studies

BACKGROUND: Electromyography (EMG) and nerve conduction studies (NCS) are an unpleasant and sometimes painful examinations. Pain can reduce patient\u27s compliance and have a negative effect on the examination results. Different studies report that music affects pain perception by acting as a distractor, by inducing positive emotional valence or through the concept of convergence of different sensory modalities. The aim of this study was to explore the effect of music and different environmental and sociodemographic factors on pain perception during EMG and NCS. SUBJECTS AND METHODS: Sixty patients with suspected neuromuscular disease were randomized into music and control group. Specific questionnaire assessed sociodemographic characteristics, medical history, examination waiting time, examination extent and biometeorological forecast. The numerical rating scale was used for the evaluation of pain. The examiner evaluated patient\u27s compliance after the examination. RESULTS: NCS was less painful for patients in the music group (p=0.03), as well as for more cooperative patients (p=0.011). For patients who previously underwent EMG/NCS, present NCS was more painful (p=0.001), regardless of the music intervention (p=0.019). EMG was more painful for older patients (p=0.041). Patients with lower level of education reported lower pain during NCS (p=0.026). Gender, financial satisfaction, biometeorological forecast, diabetes, depression or malignant disease, use and dosing of analgesics or antidepressants, symptoms, examination waiting time and the examination extent had no effect on pain perception. CONCLUSIONS: Music significantly decreased the perception of pain associated with NCS, but not the EMG portion of the examination. During EMG pain level was not significantly reduced, but the median of pain was still lower. Generally, the pain level during NCS, unlike the one during EMG, was affected by patients\u27 compliance, level of education and painful predetermination. We propose using music during EMG/NCS because it can make the examination more comfortable for the patient and thus contribute to better quality of this examination

Acetabular dysplasia

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