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Severe Neonatal-Onset Encephalopathy with Microcephaly

Severe Neonatal Encephalopathy Due to MECP2 Mutation


  • At the same time,however,much has changed. published or unpublished,making it possible for us to There has been immense progress in the technical present illustrations of nearly all known white matter possibilities of magnetic resonance and in the know[books.google.com]
  • Vitamin B6 (pyridoxine) dependent seizures also present as difficult to manage neonatal seizures.[clinicaladvisor.com]
  • To aid the diagnostic process in such patients we present an overview of causes, including the rapidly expanding list of genes involved.[childnervoussystem.blogspot.com]
  • Jaundice presenting in the first 24 hours of life Jaundice presenting in the first 24 hours of life is more likely to have a serious underlying cause such as infection, haemolytic disease or metabolic disorder.[patient.info]
  • JS may present during the neonatal period [ 10 ]. Hypotonia of variable severity is present in almost all patients.[cerebellumandataxias.biomedcentral.com]
Poor Feeding
  • These babies experience poor feeding, leading to a failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MECP2-related severe neonatal encephalopathy have severe to profound intellectual disability.[ncbi.nlm.nih.gov]
  • The diagnosis of neonatal HSV can be difficult, but it should be suspected in any newborn with irritability, lethargy, fever or poor feeding at one week of age.[aafp.org]
  • .  h/o  high-pitched cry  poor feeding  seizures  increased movement of the arms and legs (spasticity) 32.[slideshare.net]
  • feeding, vomit, diarrhea) § Sneezing, tachypnea, excessive sweating § Fever and seizures uncommon (must R/O sepsis or other disorder) o Duration of symptoms § Weeks – long-acting barbiturates, hydroxyzine § Months – heroin o Supportive management, unless[emilytam.com]
  • Pontocerebellar Hypoplasia Type 6 (PCH type 6): PCH type 6 manifests as early as the first day of life or within the first month of life as infantile encephalopathy, with generalized hypotonia, lethargic, poor sucking and poor feeding.[rarediseases.org]
Sparse Hair
  • X-linked - psychosis - macroorchidism Rett syndrome Trisomy Xq28 X-linked non-syndromic intellectual deficit Coffin-Siris syndrome Familial multiple meningioma Atypical teratoid tumor Familial rhabdoid tumor Neurofibromatosis type 3 Intellectual deficit - sparse[csbg.cnb.csic.es]
  • Hyperreflexia MedGen UID: 57738 • Concept ID: C0151889 • Finding Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and above.[ncbi.nlm.nih.gov]
  • Spasticity and hyperreflexia are often present but some newborn infants are hypotonic. MRI imaging reveals cortical atrophy with hippocampal hypoplasia and a hypoplastic corpus callosum. Progressive microcephaly has been described.[disorders.eyes.arizona.edu]
  • Over the first year of life she was noted to have progressive global developmental delay, visual impairment, microcephaly, hypertonia, hyperreflexia, and seizures. No epileptiform discharges were seen on electroencephalogram.[childnervoussystem.blogspot.com]
  • Common - Between 50% and 80% cases Accelerate your rare disease diagnosis with us Learn more Other less frequent symptoms Patients with Microcephaly and Rigidity. may also develop some of the following symptoms: Common Symptoms - More than 50% cases Hyperreflexia[mendelian.co]
  • Follow-up at 4 months showed microcephaly and severe neurodevelopmental delay with generalized hypotonia, head lag, and hyperreflexia. She failed to make visual contact, and her pattern of movements was stereotyped. F ig 1.[ajnr.org]


  • Repeat septic workup done again was negative. Other tests which included inborn errors of metabolism done by tandem mass spectrophotometry for amino acids, fatty acids, and organic acids along with biotinidase levels was normal.[jcnonweb.com]
  • Complete laboratory workup for diagnosis for MCD therefore includes plasma amino acids, serum uric acid, urine amino acids and total homocysteine (urine and plasma).[clinicaladvisor.com]


  • Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground.[globalgenes.org]
  • In 99% of cases, adequate treatment during pregnancy cures both mother and fetus. However, in some cases, syphilis treatment late in pregnancy eliminates the infection but not some signs of syphilis that appear at birth.[merckmanuals.com]
  • Treatment Treatment Options: No treatment is known for this condition.[disorders.eyes.arizona.edu]
  • These conditions can cause a severe lack of oxygen in the baby’s brain, which is why quick delivery and treatment must occur when a baby experiences them.[abclawcenters.com]
  • Measure serum bilirubin level within two hours and manage according to threshold table and treatment threshold graphs.[patient.info]


  • Prognosis Prognosis is poor; the majority of patients will only live into infancy. Patients with EXOSC3 mutation have a less severe prognosis. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Depending on the severity, types of seizures, and prognosis, EEs can be classified into several major subtypes: Early Infantile EE (EIEE) or Ohtahara Syndrome is one of the most severe forms of EE and is characterized by the following: Presentation within[centogene.com]
  • […] longterm sequelae o Moderate HIE § Lethargy, hypotonia, decr reflexes, seizures § 20-40% risk abnormal outcome o Severe HIE § Coma, flaccid tone, brainstem/autonomic dysfunction, seizures, incr ICP § Morbidity or severe morbidity · EEG is important for prognosis[emilytam.com]
  • Prognosis This is dependent on the underlying cause but otherwise excellent with prompt diagnosis and treatment. Biliary atresia requires surgery within the first two months of life for a better prognosis [ 5 ] .[patient.info]
  • . severe mental retardation.Note: HC alone should never be used to establish a prognosis for intellectual development. 17.[slideshare.net]


  • Causes: There is overlap in the etiologies that cause Ohtahara syndrome and early myoclonic encephalopathy.[epilepsydiagnosis.org]
  • Etiology Etiology of PCH1 is for the most part unknown.[orpha.net]
  • Etiology The etiology of microcephaly can be broadly divided into two categories: premature fusion of cranial sutures (i.e., craniosynostosis) or poor brain growth.[emedicine.medscape.com]
  • Their etiology remains elusive but they are occasionally caused by metabolic diseases or malformations.[ingentaconnect.com]
  • Rarely it is an etiology of psychomotor retardation of childhood. Lens dislocation outside of the neonatal period is a common finding but of variable onset.[clinicaladvisor.com]


  • […] syndrome Acatalasemia Xeroderma pigmentosum complementation group C Synonym(s): - Severe congenital encephalopathy due to MECP2 mutation Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): (no data available) Epidemiological[csbg.cnb.csic.es]
  • Summary Epidemiology Incidence is unknown. About 40 patients with PCH1 have been reported. Clinical description The clinical course is severe. PCH1 is characterized prenatally often by polyhydramnios with arthrogryposis mutiplex congenital.[orpha.net]
  • Congenital cytomegalovirus infection: review of the epidemiology and outcome. Obstet Gynecol Surv. 2002; 57 :245–256. [ PubMed ] [ Google Scholar ] 8. Fowler KB, Stagno S, Pass RF.[ncbi.nlm.nih.gov]
  • Epidemiology Microcephaly is not a common condition.[emedicine.medscape.com]
  • Epidemiology Approximately 60% of term and 80% of preterm babies develop jaundice in the first week of life; about 10% of breast-fed babies are still jaundiced at 1 month of age [ 3 ].[patient.info]
Sex distribution
Age distribution


  • Moreover, the knowledge of abnormalities present in the central nervous system may give hints about the pathophysiology of the disease." A fetal MRI -- Sagittal T2 (37 weeks).[medicalxpress.com]
  • Clinicians can easily tell the difference because charts from WHO data tend to stop at 24 months of age, whereas the charts from CDC data extend to 36 months of age. [6, 7] Pathophysiology If the sutures fuse prematurely, the skull may take on an abnormal[emedicine.medscape.com]
  • (Includes an excellent review of the molecular basis and pathophysiology causing the clinical disease.) Copyright 2017, 2013 Decision Support in Medicine, LLC. All rights reserved.[clinicaladvisor.com]
  • Microcephaly is the only proven malformation, or congenital abnormality, found in the children of Hiroshima and Nagasaki. [26] Other relations [ edit ] Intracranial volume also affects this pathology, as it is related with the size of the brain. [27] Pathophysiology[en.wikipedia.org]


  • – monitoring, C/S if fetal distress o Prevent further injury – manage ventilation, perfusion, glucose, seizures, organs o Ventilation – prevent hypoxemia, but not overcorrection causing lung injury o Cerebral blood flow is pressure-passive to systemic[emilytam.com]
  • Centers for Disease Control and Prevention. Available at . Accessed: May 5, 2016. National Center for Health Statistics. WHO Growth Charts. Centers for Disease Control and Prevention. Available at WHO Growth Charts. Accessed: May 5, 2016.[emedicine.medscape.com]
  • Acyclovir suppression to prevent cesarean delivery after first-episode genital herpes. Obstet Gynecol. 1996;87:69–73. 17. Stray-Pedersen B. Acyclovir in late pregnancy to prevent neonatal herpes simplex [Letter]. Lancet. 1990;336:756. 18.[aafp.org]
  • Glycoprotein-D-adjuvant vaccine to prevent genital herpes. N Engl J Med. 2002; 347 :1652–1661. [ PubMed ] [ Google Scholar ] 36.[ncbi.nlm.nih.gov]
  • It has been observed in all ethnic groups but its rarity so far prevents clear delineation of epidemiologic patterns.[clinicaladvisor.com]

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