Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027121 (myositis)
 4,538 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

BACKGROUND Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder that is part of a group of acute porphyria disorders usually found in females of reproductive age. Although clinically there is low penetrance, with 90% of genetically diagnosed individuals never experiencing an acute flair, consequences of acute flairs may lead to devastating results. Debilitating paresis, seizures, respiratory failure, and even death may result from AIP. Early detection is key in preventing these devastating manifestations. CASE REPORT A 67-year-old Hispanic man with a past medical history of pulmonary Coccidioides on fluconazole presented with bilateral thigh pain for 2 days. At baseline, the patient had no limitations, but now was limited to minimal walking due to his thigh pain subsequently progressing to diffuse weakness after the administration of IV Solumedrol. Over the next few months, EMG was notable for acute-on-chronic sensorimotor axonal denervation in upper and lower extremities, without evidence of myositis. Urine porphobilinogen was 58 mmol/L, which is 29 times the upper limit of normal. Treatment was started with hemin 4 mg/kg/day for 4 days. CONCLUSIONS Over our patient's clinical course, he was affected by a severe manifestation of repeated acute porphyria attacks, which started as anterior thigh pain and progressed to diffused weakness disproportionally affecting the muscles of the upper extremities. Although the patient was in his late 60's at the initial onset of AIP, his diffuse Coccidioides infection, use of azoles, and steroids likely contributed to his first AIP attack.
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PMID:Axonal Polyneuropathy in a Man Treated for Pulmonary Cocci: A Case of Acute Intermittent Porphyria. 3153 Jul 95

Diabetic myonecrosis or diabetic muscle infarction (DMI), is a very rare and under-recognised complication of poorly controlled long-standing diabetes mellitus. We report a case of a 59-year-old male, who had diabetes for ten years. He presented with bilateral thigh pain of insidious onset for three months and difficulty in walking, with a similar episode in his right thigh in 2015. Creatine phosphokinase (CPK) was one and half times the normal upper limit. Magnetic resonance imaging (MRI) of his thighs showed symmetrical bulky muscles with hyperintensities on T2-weighted and short tau inversion recovery (STIR) images, supporting a clinical diagnosis of idiopathic inflammatory myositis (IIM). However, a review of histopathology slides of a muscle biopsy from the right vastus lateralis performed in 2015 showed muscle fibre ischaemic necrosis suggestive of muscle infarction. Thus a diagnosis of recurrent diabetic myonecrosis was made and the patient was treated with bed rest, opioids and aspirin with gradual recovery.
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PMID:Diabetic myonecrosis: an unusual mimicker of idiopathic inflammatory myositis. 3256 86


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