2016
The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin
Del Rizzo M, Galderisi A, Celato A, Furlan F, Giordano L, Cazzorla C, Fasan I, Moretti C, Zschocke J, Burlina A. The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin. European Journal Of Pediatrics 2016, 175: 1123-1128. PMID: 26847429, DOI: 10.1007/s00431-016-2699-5.Peer-Reviewed Case Reports and Technical NotesConceptsType 1 diabetes mellitusGlutaric aciduria type 1Diabetes mellitusType 1Metabolic disordersInsulin daily doseIrreversible neuronal damageLong-term treatmentSimilar pathogenic mechanismsDifferent metabolic disordersBilateral striatal necrosisMonths of ageEffect of insulinAcute hypotoniaClassical T1DMLimb dystoniaNeurological outcomeInfective episodesNeuronal injuryDaily doseNeuronal damageDystonic movementsHypoglycemic episodesCarnitine supplementationGlycemic profile
2015
Case Report: When an Induced Illness Looks Like a Rare Disease
Rabbone I, Galderisi A, Tinti D, Ignaccolo M, Barbetti F, Cerutti F. Case Report: When an Induced Illness Looks Like a Rare Disease. Pediatrics 2015, 136: e1361-e1365. PMID: 26438710, DOI: 10.1542/peds.2014-4165.Peer-Reviewed Case Reports and Technical NotesConceptsC-peptide valuesRabson-Mendenhall syndromeHypoglycemic episodesC-peptideInsulin secretagoguesConsecutive diagnostic testsPrevious hospital admissionsPlasma insulin levelsSevere insulin resistanceInsulin receptorChildren 4 yearsFactitious hypoglycemiaHospital admissionInsulin levelsInsulin resistancePlasma insulinClinical historyDiagnostic challengeInsulin injectionsDiagnostic pathwayAdditional drugsNeurodevelopmental delayCommon causeRare disorderRare disease