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 NotesMeSH KeywordsChild, PreschoolDiagnosis, DifferentialDonohue SyndromeHumansMaleMunchausen Syndrome by ProxyConceptsC-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
2013
Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?
Grasso V, Colombo C, Favalli V, Galderisi A, Rabbone I, Gombos S, Bonora E, Massa O, Meschi F, Cerutti F, Iafusco D, Bonfanti R, Monciotti C, Barbetti F. Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR? Acta Diabetologica 2013, 50: 951-957. PMID: 23824322, DOI: 10.1007/s00592-013-0490-x.Peer-Reviewed Case Reports and Technical NotesConceptsSevere insulin resistanceRabson-Mendenhall syndromeDonohue syndromePatient 3Insulin resistanceAbsence of hypertensionGene mutationsINSR mutationsInsulin receptor gene mutationsBartter-like syndromeBartter syndrome type IIReceptor gene mutationsYear of birthSevere hirsutismClinical featuresFifth patientPotassium supplementationAcanthosis nigricansHyperreninemic hyperaldosteronismRenal abnormalitiesCongenital syndromePatientsPubertal femalesSyndromeINSR gene