Myoclonus-dystonia syndrome due to GNAO1 mutation: a case report

Introduction: Myoclonus-dystonia syndrome (MDS) is an autosomal-dominant movement disorder characterized by childhood-onset myoclonic jerks and dystonic symptoms. The estimated prevalence for MDS is 1/500.000 and usually it is associated with mutations in the epsilon-sarcoglycan (SGCE) gene. One rarer genetic cause for MDS is the GNAO1 mutation. Cytogenetically located on 16q13, this gene encodes a specific subclass of G protein, a signal-transducing molecule important to the central and peripheral nervous system. This heterotrimeric guanine nucleotide-binding protein is composed of alpha, beta, and gamma subunits. The GNAO1 gene usually encodes for G-alpha-o, one of the four subclasses of the G-alpha subunit. GNAO1 variants can cause a wide clinical spectrum and the two major characteristic features caused by them are early-onset epileptic encephalopathies (EOEEs) and involuntary movements without seizures. Genetic testing for GNAO1 should be considered in patients with EOEE or involuntary movement with severe developmental delay. Objective: Our report is about a 2 years old female patient with MDS due to GNAO1 mutation, a rare genetic condition. The aim of the present case report is to highlight the relevance of genetic testing for GNAO1 in cases of MDS. Case Report: A 2-years-old female patient diagnosed with the Myoclonus-dystonia syndrome due to GNAO1 mutation presented multifocal dystonia and severe myoclonic jerks. GNAO1 is located on chromosome 16 (not X-linked) and the mutation was found by whole exome sequencing. The alteration in the position chr16.56.385.308 resulted from a G to A substitution. The glutamine at codon 246 was replaced with lysine. In addition, the electroencephalogram detected myoclonia with no loss of consciousness. In spite of the absence of epileptic encephalopathy, this neurodevelopmental disorder interferes with her daily tasks, particularly breastfeeding. Low doses of rivotril had been attempted for small periods of time. It is expected that, at the age of six years, she undergoes a neurosurgery to insert DBS (deep brain stimulation) in the internal globus pallidus (GPi). DBS is an effective treatment for even the severe MDS and surgery at an early stage may predict a better outcome

The impact of properly diagnosed sarcopenia on postoperative outcomes after gastrointestinal surgery: A systematic review and meta-analysis.

BackgroundSarcopenia is defined as the loss of muscle mass combined with loss of muscle strength, with or without loss of muscle performance. The use of this parameter as a risk factor for complications after surgery is not currently used. This meta-analysis aims to assess the impact of sarcopenia defined by radiologically and clinically criteria and its relationship with complications after gastrointestinal surgeries.Materials and methodsA review of the literature was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines (PROSPERO registration number: CRD42019132221). Articles were selected from the PUBMED and EMBASE databases that adequately assessed sarcopenia and its impact on postoperative complications in gastrointestinal surgery patients. Pooled estimates of pre-operative outcome data were calculated using the odds ratio (OR) and 95% confidence interval (CI). Subgroup analysis were performed to assess each type of surgery.ResultsThe search strategy returned 1323, with 11 studies meeting the inclusion criteria. A total of 4265 patients were analysed. The prevalence of sarcopenia between studies ranged from 6.8% to 35.9%. The meta-analysis showed an OR for complications after surgery of 3.01 (95% CI 2.55-3.55) and an OR of 2.2 (95% CI 1.44-3.36) for hospital readmission (30 days).ConclusionSarcopenia, when properly diagnosed, is associated with an increase in late postoperative complications, as well as an increase in the number of postoperative hospital readmissions for various types of gastrointestinal surgery. We believe that any preoperative evaluation should include, in a patient at risk, tests for the diagnosis of sarcopenia and appropriate procedures to reduce its impact on the patient's health