Other clinical presentations include failure to thrive, epilepsy, and optic nerve atrophy. [karger.com]

We present the anesthetic management of a neonate who was diagnosed with MEGD(H)EL syndrome and underwent diagnostic magnetic resonance imaging of the brain at 14 days of postnatal age. [experts.umn.edu]

In the present study, the characteristics of the disease were detected in both siblings, including the proband. [spandidos-publications.com]

Even though the MS/MS presented an increased level of 3-methylglutaconic aciduria, we still cannot present a diagnosis because of the various phenotypes present in the neonatal period. [frontiersin.org]

• Epilepsy

  SHOWING 1-10 OF 26 REFERENCES The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations. H. LumishYaping YangF. XiaAshley L. WilsonW. [semanticscholar.org]

  Other clinical presentations include failure to thrive, epilepsy, and optic nerve atrophy. [karger.com]

  View the complete list with 572 more genes Specificity 1 % Genes 100 % Epilepsy and Mitochondrial Encephalopathy. By MGZ Medical Genetics Center (Germany). [mendelian.co]

  The expanding MEGDEL phenotype: optic nerve atrophy, microcephaly, and myoclonic epilepsy in a child with SERAC1 mutations. JIMD Rep 2014; 16: 75-79 8 Rodríguez-García ME, Martín-Hernández E, de Aragón AM., et al. [thieme-connect.com]

• Anemia

  Case Description A female infant was born at 38+ 5/7 weeks gestational age to a 38-year-old mother who had gestational anemia, which was supplemented with oral iron, and gestational diabetes, which was controlled with diet. [frontiersin.org]

  Genet. 43:385–393. 2006.PubMed/NCBI View Article : Google Scholar 20 Ojala T, Polinati P, Manninen T, Hiippala A, Rajantie J, Karikoski R, Suomalainen A and Tyni T: New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia [spandidos-publications.com]

• Failure to Thrive

  Methods: 15 yo female is admitted in our clinic with: extrapyramidal syndrome, bilateral deafness – auricular prosthesis, emesis and failure to thrive (G=31 kg). [ejpn-journal.com]

  At 8 months of age, a subacute neurological degradation occurred with severe hypotonia, dystonia with extrapyramidal movements and failure to thrive. Brain MRI revealed basal ganglia lesions suggestive of Leigh syndrome. [agris.fao.org]

  […] to thrive Sensorineural hearing impairment And another 53 symptoms. [mendelian.co]

  In infancy, encephalopathy leads to difficulty feeding, an inability to grow and gain weight at the expected rate (failure to thrive), and weak muscle tone (hypotonia). [rarediseases.oscar.ncsu.edu]

• Jaundice

  He was in the well-baby nursery for 2 weeks because of jaundice. Following are his developmental milestones: he rolled over when he was 5 months old, sat at 8 months, and walked at 20 months of age. [karger.com]

• Muscle Hypotonia

  MEGDEL syndrome is an autosomal recessive disorder, clinically characterized by 3-methylglutaconic aciduria, psychomotor delay, muscle hypotonia, sensorineural deafness, and Leigh-like lesions on brain magnetic resonance imaging. [x-mol.com]

  Abstract MEGDEL syndrome is an autosomal recessive disorder, clinically characterized by 3-methylglutaconic aciduria, psychomotor delay, muscle hypotonia, sensorineural deafness, and Leigh-like lesions on brain magnetic resonance imaging. [pubmed.ncbi.nlm.nih.gov]

• Fracture

  On brain CT scan, a linear fracture was found on the right frontal bone. Incidentally, basal ganglia changes were observed on imaging (Fig. 1). Neurological examination was unremarkable, aside from speech and motor delays. [karger.com]

• Psychomotor Retardation

  Patients and methods Patients Two male siblings, born in 2013 and 2015, from consanguineous Turkish parents were admitted to Biruni Hospital (Istanbul, Turkey) with psychomotor retardation, spasticity, dystonia and deafness. [spandidos-publications.com]

• Self-Mutilation

  Pictures of both arms revealed frequent different ages ulcers secondary to self-biting (self-mutilation). Currently, he has occasional mild choreoathetotic movement with no history of seizure. [karger.com]

• Seizure

  Currently, he has occasional mild choreoathetotic movement with no history of seizure. EEG revealed symmetrical background of 9 Hz with no epileptiform discharges. [karger.com]

  Genes related to Megdel Syndrome SERAC1 View recommended genes panels Clinical Features Top most frequent phenotypes and symptoms related to Megdel Syndrome Intellectual disability Seizures Global developmental delay Generalized hypotonia Hearing impairment [mendelian.co]

• Psychomotor Regression

  This case had severe psychomotor regression, self-mutilation, and severe insomnia. More research at the genetic level is needed in the future to reach a clear hypothesis about the disease and its management. [karger.com]

• Behavior Problem

  It's an autosomal dominantly inherited disorder which characterized by developmental delay with absent or limited speech, behavioral problems, dysmorphic features, and craniofacial abnormalities, including palatal and dental abnormalities (3). [frontiersin.org]

• Convulsions

  A few hours later, she went into convulsions that involved rowing movements of the limbs. Her blood glucose was 0.7 mmol/L and blood gas analysis revealed anion gap metabolic acidosis (24.69 mmol/L). [frontiersin.org]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

But her parents thought there was not obvious effect after treatment and did not adhere to the standard treatment. Here, we try to explain its function through the metabolic pathways (Figure 3). [frontiersin.org]

Symptoms and biological findings progressively improved with symptomatic treatment but lactic acidosis and high lactate to pyruvate ratio along with 3-methylglutaconic aciduria persisted. [agris.fao.org]

The main treatment of MEGDEL syndrome is supportive and multidisciplinary, involving pediatric neurologists, metabolic pediatricians, dieticians, and physical therapists. [karger.com]

Treatment is supportive, and the outcome is usually poor with early death, except for the juvenile-onset type. Keywords: Glutaconic acid; Hypotonia; Leigh syndrome; MEGDEL; Mitochondrial; Ribosomal; Spasticity. Copyright © 2020 Elsevier Inc. [pubmed.ncbi.nlm.nih.gov]

The precise etiology of the increased 3-MG acid excretion in these subtypes has yet to be elucidated. MEGDEL syndrome is considered as a challenging condition because of its rarity [1]. The prevalence and incidence of MEGDEL syndrome remain unknown. [karger.com]

We describe the epidemiology and important features of this rare disease that are pertinent for the anesthesiologist. Case Reports APA Standard Harvard Vancouver Author BIBTEX RIS [experts.umn.edu]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]