title: Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure.
abstract: Males with methyl-CpG-binding protein 2 (MECP2) mutations may present with neonatal encephalopathy. We report on an infant with a MECP2 mutation who exhibited complex constellation of symptoms, including severe hypotonia, respiratory failure, and apneic episodes. In the neonatal period these symptoms are common to other disorders, including Ondine syndrome. Our observation confirms that the triad of severe hypotonia, apneic episodes, and respiratory failure may be caused by MECP2 mutations. Neonatologist and neuropediatricians must be alert to the presence of these symptoms to exclude this rare but severe disorder. Clinical suspicion and molecular confirmation of MECP2 mutation is of great importance for defining the diagnosis of this rare affection.
authors.affiliation: Hospital Unit of Pediatrics, University Hospital OVE-Policlinico, Catania, Italy.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Falsaperla
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Pavone
authors.forename: Marco
authors.initials: M
authors.lastname: Fichera
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Piero
authors.initials: P
authors.lastname: Pavone
mesh_terms: D001049:Apnea / Q000209:etiology / Q000235:genetics*; D004569:Electroencephalography; D005764:Gastroesophageal Reflux / Q000209:etiology; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009123:Muscle Hypotonia / Q000209:etiology / Q000235:genetics*; D009460:Neurologic Examination; D011014:Pneumonia / Q000209:etiology; D012131:Respiratory Insufficiency / Q000209:etiology / Q000235:genetics*; D015518:Rett Syndrome / Q000235:genetics; D020182:Sleep Apnea, Central / Q000150:complications / Q000235:genetics
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2