ABSTRACT
RESUMO Objetivo: A síndrome de Leigh é uma doença neurodegenerativa com incidência de 1:40.000 nados-vivos. Apresenta ampla heterogeneidade clínica, bioquímica e genética, mas com alterações neuropatorradiológicas homogêneas. Não existe tratamento específico, e o prognóstico é reservado. O objetivo deste estudo foi familiarizar os profissionais de saúde com a doença. Descrição do caso: Menina de 16 meses, com hipotonia axial e atraso do desenvolvimento psicomotor. Dos exames realizados: cariótipo, potenciais auditivos evocados e avaliação oftalmológica normais; presença de hiperlactacidemia e hipocitrulinemia. Após a realização de ressonância magnética cerebral sob anestesia, observou-se agravamento da hipotonia com necessidade de internação por episódios de cianose/apneia. O eletroencefalograma não mostrou atividade epileptiforme. A neuroimagem revelou hipersinal lenticular bilateral com lesão do putâmen e do globo pálido esquerdo. Encontrou-se a mutação 8993T>G (MT-ATP6) no DNA mitocondrial. Comentários: De 10 a 30% dos doentes com síndrome de Leigh apresentam mutações do DNA mitocondrial. A descompensação com agravamento neurológico após intervenção anestésica está descrita e, nesse caso, apoiou o diagnóstico. Importante alertar para casos semelhantes, com diminuição de exames invasivos para diagnóstico.
ABSTRACT Objective: Leigh syndrome is a neurodegenerative disorder with an incidence of 1:40,000 live births. It presents wide clinical, biochemical, and genetic heterogeneity, but with homogenous neuropatoradiological alterations. There is no specific treatment, and the prognosis is reserved. This case report aimed familiarize health professionals with the disease. Case Description: A 16-month-hold girl who was followed in outpatient clinic due to axial hypotonia and delayed psychomotor development. Karyotype, auditory evoked potentials and ophthalmologic evaluation were normal. Evidence of hyperlactacidemia and hypocitrullinemia was detected in the patient. After performing brain magnetic resonance under anesthesia, hypotonia got worse, and the patient was hospitalized after an episode of cyanosis and apnea. The electroencephalogram showed no epileptiform activity. Neuroimaging revealed bilateral lenticular hyperintensity, especially in the putamen and in the left globus pallidus regions. Molecular analysis revealed an 8993T>G (MT-ATP6) mutation in the mitochondrial DNA. Comments: Between 10 and 30% of individuals with Leigh syndrome have mitochondrial DNA mutations. The decompensation after anesthetic intercurrences is typically associated with neurological deterioration and, in this case, increased the diagnosis suspicion. It is important to alert for similar cases and to reduce invasive diagnostic tests if the diagnosis is suspected.
Subject(s)
Humans , Female , Infant , DNA, Mitochondrial/genetics , Leigh Disease/genetics , MutationABSTRACT
Objective To evaluate the value of microcirculation and oxygen metabolism evaluation (MicrOME)in acute kidney injury(AKI) evaluation in patients with septic shock after resuscitation. Methods Consecutive patients with septic shock after resuscitation and mechanical ventilation were enrolled from October 2016 to February 2017 in ICU at Peking Union Medical College Hospital.Patients were divided into 3 groups based on 10 min transcutaneous oxygen challenge test transcutaneous partial pressure of oxygen(PtcO2)and venoarterial pressure of carbon dioxide difference(Pv-aCO2)/arteriovenous O2 content difference(Ca-vO2)by blood gas analysis, i.e. group A [ΔPtcO2>66 mmHg(1 mmHg=0.133 kPa) and Pv-aCO2/Ca-vO2≤1.23], group B (ΔPtcO2≤66 mmHg), group C (ΔPtcO2>66 mmHg and Pv-aCO2/Ca-vO2>1.23). Heart rate,mean arterial pressure,central venous pressure,noradrenaline dose,lactate,Pv-aCO2,Ca-vO2, lactate clearance, central venous oxygen saturation(ScvO2) and liquid equilibrium were assessed after resuscitation.AKI staging based on Kidney Disease Global Improving Outcomes (KDIGO) clinical practice guideline was analyzed. The predictive value of lactate,ScvO2,Pv-aCO2/Ca-vO2 to progression of AKI after resuscitation was determined using receiver operating characteristic(ROC)curve analysis.Results A total of 49 septic shock patients were enrolled including 30 males and 19 females with mean age of (61.10±17.10) years old.There were 19 patients in group A,21 patients in group B, and 9 patients in group C. Acute physiology and chronic health evaluation Ⅱ score was 20.92±7.19 and sequential organ failure assessment score 12.02±3.28. There were 4 patients with AKI and 1 progressed in group A,11 patients with AKI and 2 progressed in group B, 6 patients with AKI and 4 progressed in group C. The cutoff value of Pv-aCO2/Ca-vO2 was equal or more than 2.20 for predicting progression of AKI,resulting in a sensitivity of 85.7％ and a specificity of 73.8％.Conclusion MicrOME is a significant parameter to predict the progression of AKI in patients with septic shock after resuscitation. Pv-aCO2/Ca-vO2 is also a good predictive factor.
ABSTRACT
Mitochondrial cytopathies represent a heterogeneous group of multisystem disorder that preferentially affects the muscle and nervous systems. Mitochondrial respiratory chain enzyme complexes (MRC) defect can be the cause of many unexplained neurological disorders including epilepsy, cerebral palsy, delayed development and hypotonia. We retrospectively reviewed clinical and laboratory features of 16 patients who showed defects in MRC activity, confirmed by biochemical assay from spectrophotometry in muscles to characterize clinical and laboratory features for MRC defects and provide more precise diagnosis and effective treatments. In the patients with uncontrolled seizure activity, developmental regression, characteristic features of bilateral symmetric high signal intensity at deep nucleus and/or white matter in T2WI, the mitochondrial cytopathies should be added to the list of differential diagnoses. And lactate elevation in magnetic resonance spectroscopy (MRS) can be useful in the diagnosis of mitochondrial cytopathies.