- Severe acrocyanosis precipitated by cold agglutinin secondary to infection with Mycoplasma pneumoniae in a pediatric patient. [Journal Article]
- CMCroat Med J 2017 Dec 31; 58(6):424-430
- This is the first report describing a severe form of cold agglutinin-induced acrocyanosis with cutaneous necrosis after Mycoplasma infection in a 9-year-old patient without any other severe symptoms ...
This is the first report describing a severe form of cold agglutinin-induced acrocyanosis with cutaneous necrosis after Mycoplasma infection in a 9-year-old patient without any other severe symptoms and laboratory alterations. We also present the results of two non-invasive methods used to determine the viability of tissues, degree of tissue perfusion impairment, and the responsiveness of the microvasculature. Laser Doppler flowmetry and laser speckle contrast imaging, both suitable to measure tissue blood perfusion non-invasively, have been used in the diagnosis and follow-up of various peripheral vascular diseases. In our patient, we demonstrated remarkably reduced microcirculation before the treatment and a significant perfusion increase in the acral regions after pentoxifylline therapy. The investigational techniques were useful tools to assess and quantify the severity of peripheral perfusion disturbances and to monitor the efficacy of the treatment in our patient.
- Erythromelalgia. [Journal Article]
- VASAVasa 2018; 47(2):91-97
- Erythromelalgia is a rare syndrome characterized by the intermittent or, less commonly, by the permanent occurrence of extremely painful hyperperfused skin areas mainly located in the distal extremit...
Erythromelalgia is a rare syndrome characterized by the intermittent or, less commonly, by the permanent occurrence of extremely painful hyperperfused skin areas mainly located in the distal extremities. Primary erythromelalgia is nowadays considered to be a genetically determined neuropathic disorder affecting SCN9A, SCN10A, and SCN11A coding for NaV1.7, NaV1.8, and NaV1.9 neuronal sodium channels. Secondary forms might be associated with myeloproliferative disorders, connective tissue disease, cancer, infections, and poisoning. Between the pain episodes, the affected skin areas are usually asymptomatic, but there are patients with typical features of acrocyanosis and/or Raynaud's phenomenon preceding or occurring in between the episodes of erythromelalgia. Diagnosis is made by ascertaining the typical clinical features. Thereafter, the differentiation between primary and secondary forms should be made. Genetic testing is recommended, especially in premature cases and in cases of family clustering in specialized genetic institutions after genetic counselling. Multimodal therapeutic intervention aims toward attenuation of pain and improvement of the patient's quality of life. For this purpose, a wide variety of nonpharmacological approaches and pharmacological substances for topical and systemic use have been proposed, which are usually applied individually in a step-by-step approach. Prognosis mainly depends on the underlying condition and the ability of the patients and their relatives to cope with the disease.
- Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency. [Journal Article]
- MBMetab Brain Dis 2017 Nov 20
- Ethylmalonic encephalopathy is a very rare autosomal recessively inherited inborn error of metabolism; characterized by encephalopathy, recurrent petechiae without bleeding diathesis, chronic diarrhe...
Ethylmalonic encephalopathy is a very rare autosomal recessively inherited inborn error of metabolism; characterized by encephalopathy, recurrent petechiae without bleeding diathesis, chronic diarrhea, and orthostatic acrocyanosis. Here, we describe a case of ethylmalonic encephalopathy with late onset neurologic symptoms and a confusing family history of two deceased brothers with the wrong suspicion of short chain acyl-CoA dehydrogenase deficiency.
- When acrocyanosis in intensive care unit is not due to vasopressor support. [Journal Article]
- ICIntensive Care Med 2018; 44(2):244-245
- Cold Agglutinin Disease in a Patient of Pulmonary Tuberculosis. [Journal Article]
- JCJ Coll Physicians Surg Pak 2017; 27(9):S92-S94
- We report a case of secondary cold agglutinin disease (CAD) due to pulmonary tuberculosis in a 68-year male patient who presented with acrocyanosis involving both upper limbs and greater portion of l...
We report a case of secondary cold agglutinin disease (CAD) due to pulmonary tuberculosis in a 68-year male patient who presented with acrocyanosis involving both upper limbs and greater portion of lower limbs. Direct Coombs' test was positive with mild anemia and the cold agglutinin titer was high. Sputum showed numerous acid fast bacilli per high power field. The patient was given standard anti-tuberculous treatment (ATT) and his symptoms gradually improved. After nine months of ATT, his haemoglobin improved, acrocyanosis resolved completely and cold agglutinin titer decreased in level.
- Right Ventricular Thrombosis Combined With Fetal Death and Acrocyanosis in Pregnancy. [Journal Article]
- AMActa Med Iran 2017; 55(7):464-469
- Prepartum or postpartum right ventricular thrombosis (RVT) is an exceedingly rare and potentially lethal phenomenon in pregnancy. We here report a case of a pregnant patient with near term pregnancy ...
Prepartum or postpartum right ventricular thrombosis (RVT) is an exceedingly rare and potentially lethal phenomenon in pregnancy. We here report a case of a pregnant patient with near term pregnancy admitted for dyspnea, amniotic fluids discharge and labor pain in a gynecology center that an eight-month dead fetus was diagnosed and delivered vaginally by induction. A post delivery period was complicated by aggravation of her dyspnea and pleuritic chest pain that she referred for further evaluation in our cardiac center. Physical exam revealed normal head and neck exam, and history taking revealed that her fetus had intra-uterine growth failure as reported by her gynecologist. Chest exam except to left lung crackle was normal. Lower and upper left extremities were normal. However, acrocyanosis was found in tips of 4 and 5th right-hand digits. Chest x-ray revealed some linear consolidation in left lower lung lobes, and the precordial exam was normal. ECG was normal. Post delivery transthoracic echocardiography (TEE) showed a 1.5×1.5 cm mobile right ventricular clot. C-T angiography revealed obstruction of left upper lung pulmonary artery branches. Complete thrombophilia assay showed the presence of high titer of antiphospholipid, anticardiolipin antibody, and β1 glycoprotein antibody. However, others test were normal. The patient was scheduled for cardiac surgery, and her hemodynamic was monitored by left radial artery line and central pressure venous line, and thrombus was removed from the right ventricle (RV), and subsequent anticoagulation therapy constituted. Six-month follow-up revealed no recurrence of thrombus and recovery of patient's symptoms.
- Work-related carpal tunnel syndrome treatment: a cross-sectional study among 106 patients. [Journal Article]
- RReumatismo 2017 Aug 03; 69(2):59-64
- The objective is to assess the influence of sociodemographic, professional and clinical variables on the choice of treatment of work-related carpal tunnel syndrome (CTS). An exhaustive and trans-sect...
The objective is to assess the influence of sociodemographic, professional and clinical variables on the choice of treatment of work-related carpal tunnel syndrome (CTS). An exhaustive and trans-sectional study was conducted over a period of eight years, from 1st January 2006 to 31 December 2013 in the Department of Occupational Medicine at University Hospital of Mahdia, Tunisia. The study population was represented by patients with work-related carpal tunnel syndrome. Data collection was based on a questionnaire sheet, describing social, occupational and medical characteristics of patients. The study population was characterized by a large female dominance, representing 95.3% with an average age of 42±7.8 years. Patients medically treated represented 38.7% and 61.3% had had surgical treatment. After binary logistic regression, surgical indication of CTS was significantly correlated to diabetes (p=0.017), other musculoskeletal disorders (p=0.02), functional signs of CTS (acrocyanosis p=0.05; muscle weakness p=0.015; radiating pain p=0.01; painful discomfort of the hand, the forearm or arm p=0.027) and to the atrophy of thenar muscles (p=0.018). According to this study, the choice of therapy for occupational CTS depends only on clinical data. More detailed studies will be needed to refine these results.
- Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy. [Journal Article]
- IJIran J Child Neurol 2017; 11(2):57-60
- Objective Ethylmalonic encephalopathy (EE) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs, and vascul...
Objective Ethylmalonic encephalopathy (EE) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs, and vascular lesions including petechial purpura, orthostatic acrocyanosis, and chronic hemorrhagic diarrhea. Biochemical hallmarks of the disease are persistently high level of lactate, and C4-C5-acylcarnitines in blood, markedly elevated urinary excretion of methylsuccinic and ethylmalonic (EMA) acids. Here we report two patients with EE as a 16-months-old male infant and a 2-yr-old boy referred to Pediatric Neurology Clinic in Children's Medical Center, Tehran-Iran that in one patient genetic analysis revealed a homozygous mutation of the ETHE1 gene in favor of ethylmalonic acidemia.
- Unexpected episodes of cyanosis in late preterm and term neonates prompted admission to a neonatal care unit. [Journal Article]
- IJItal J Pediatr 2017 Apr 14; 43(1):35
- CONCLUSIONS: Unexpected episodes of cyanosis caused admission of 1.8/1000 live births to the neonatal care unit without differences between late preterm and term infants. These episodes occurred mainly during the first day of life and infants were mostly discharged without a known diagnosis.
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- [Acrocyanosis: A common but poorly understood condition]. [Journal Article]
- RMRev Med Interne 2017; 38(4):225-227