2013
Glucose Phosphate Isomerase Deficiency In 2 Patients With Novel Mutations Presenting As Severe Neurologic Abnormalities and Transfusion Dependent Hemolytic Anemia
Puliyel M, Gallagher P, Berdoukas V, Glader B, Coates T. Glucose Phosphate Isomerase Deficiency In 2 Patients With Novel Mutations Presenting As Severe Neurologic Abnormalities and Transfusion Dependent Hemolytic Anemia. Blood 2013, 122: 947. DOI: 10.1182/blood.v122.21.947.947.Peer-Reviewed Original ResearchEvidence of kernicterusSevere neurologic abnormalitiesHemolytic anemiaTransfusion-dependent hemolytic anemiaNeurologic symptomsNeurologic abnormalitiesGlucose phosphate isomerase deficiencyHematopoietic stem cell transplantationCentral nervous system abnormalitiesDevelopmental delayStem cell transplantationTransfusion-dependent anemiaMotor neuron diseaseNervous system abnormalitiesSurvival of neuronsNeurotrophic growth factorsMonths of ageGlobal developmental delayAcute hemolytic crisisIsomerase deficiencyAnticonvulsant therapyCerebral atrophyNeurologic deficitsNeurologic presentationNeurological deficits
2011
Perinatal Onset Mevalonate Kinase Deficiency
Steiner LA, Ehrenkranz RA, Peterec SM, Steiner RD, Reyes-Múgica M, Gallagher PG. Perinatal Onset Mevalonate Kinase Deficiency. Pediatric And Developmental Pathology 2011, 14: 301-306. PMID: 21425920, DOI: 10.2350/11-02-0985-oa.1.Peer-Reviewed Original ResearchConceptsMevalonate kinase deficiencyPeriodic fever syndromeNeonatal periodKinase deficiencyFever syndromeDysmorphic featuresCentral nervous system abnormalitiesIntrauterine viral infectionCholestatic liver diseaseIntrauterine growth restrictionImmediate neonatal periodNervous system abnormalitiesSevere multisystem disorderSepsis syndromeRenal failureCerebral ventriculomegalyLiver diseasePersistent diarrheaClinical findingsPoor prognosisAutopsy findingsGrowth restrictionRare conditionExtramedullary erythropoiesisPerinatal period