title: Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.
abstract: BACKGROUND
  MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome) syndrome is a mitochondrial disorder associated with recessive mutations in SERAC1.
  
  
  OBJECTIVE
  To report transient neonatal renal findings in MEGDEL syndrome.
  
  
  RESULTS
  This 7 year-old girl was the first child of consanguineous Turkish parents. She exhibited an acute neonatal deterioration with severe lactic acidosis and liver failure. Initial evaluation revealed massive polyuria and renal failure with 3-methylglutaconic aciduria. Symptoms and biological findings progressively improved with symptomatic treatment but lactic acidosis and high lactate to pyruvate ratio along with 3-methylglutaconic aciduria persisted. 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. At 3 years of age, sensorineural deafness was documented. MEGDEL syndrome was further confirmed by the identification of an already reported homozygous mutation in SERAC1.
  
  
  CONCLUSIONS
  Transient neonatal polyuria and renal failure have not been reported to date in SERAC1 defective patients. Such neonatal kidney findings expand the clinical spectrum of MEGDEL syndrome.
authors.affiliation: Child Neurology, Hôpital Robert Debré, APHP, Paris, France.
authors.forename: Carole
authors.initials: C
authors.lastname: Harbulot
authors.affiliation: Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Paquay
authors.affiliation: Inserm U1141 and Université Paris-Diderot, Sorbonne Paris Cité, site Robert Debré, Paris, France.
authors.forename: Imen
authors.initials: I
authors.lastname: Dorboz
authors.affiliation: Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.
authors.forename: Samia
authors.initials: S
authors.lastname: Pichard
authors.affiliation: Biochemistry, Hôpital Robert Debré, APHP, Paris, France.
authors.forename: Agnès
authors.initials: A
authors.lastname: Bourillon
authors.affiliation: Biochemistry, Hôpital Robert Debré, APHP, Paris, France.
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Benoist
authors.affiliation: Biochemistry, Hôpital de la Salpêtrière, APHP, Paris, France.
authors.forename: Claude
authors.initials: C
authors.lastname: Jardel
authors.affiliation: Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Ogier de Baulny
authors.affiliation: Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Inserm U1141 and Université Paris-Diderot, Sorbonne Paris Cité, site Robert Debré, Paris, France.
authors.forename: Odile
authors.initials: O
authors.lastname: Boespflug-Tanguy
authors.affiliation: Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France; Inserm U1141 and Université Paris-Diderot, Sorbonne Paris Cité, site Robert Debré, Paris, France.
authors.forename: Manuel
authors.initials: M
authors.lastname: Schiff
keywords: Kidney; MEGDEL; Mitochondrial disease; SERAC1