FLAVIA BALBO PIAZZON

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LIM/03 - Laboratório de Medicina Laboratorial, Hospital das Clínicas, Faculdade de Medicina

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  • article 1 Citação(ões) na Scopus
    Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi-Goutieres Syndrome Phenotype
    (2023) BARCELOS, Isabella Peixoto de; BUENO, Clarissa; GODOY, Luis Filipe S.; PESSOA, Andre; COSTA, Larissa A.; MONTI, Fernanda C.; SOUZA-CABRAL, Katiane; LISTIK, Clarice; CASTRO, Diego; DELLA-RIPA, Bruno; FREUA, Fernando; PIRES, Lais C.; KRUGER, Lia T.; GHERPELLI, Jose Luiz D.; PIAZZON, Flavia B.; MONTEIRO, Fabiola P.; LUCATO, Leandro T.; KOK, Fernando
    Objective: To report a series of atypical presentations of Aicardi-Goutieres syndrome. Methods: Clinical, neuroimaging, and genetic data. Results: We report a series of six unrelated patients (five males) with a subacute loss of developmental milestones, pyramidal signs, and regression of communication abilities, with onset at ages ranging from 7 to 20 months, reaching a nadir after 4 to 24 weeks. A remarkable improvement of lost abilities occurred in the follow-up, and they remained with residual spasticity and dysarthria but preserved cognitive function. Immunization or febrile illness occurred before disease onset in all patients. CSF was normal in two patients, and in four, borderline or mild lymphocytosis was present. A brain CT scan disclosed a subtle basal ganglia calcification in one of six patients. Brain MRI showed asymmetric signal abnormalities of white matter with centrum semi-ovale involvement in five patients and a diffuse white matter abnormality with contrast enhancement in one. Four patients were diagnosed and treated for acute demyelinating encephalomyelitis (ADEM). Brain imaging was markedly improved with one year or more of follow-up (average of 7 years), but patients remained with residual spasticity and dysarthria without cognitive impairment. Demyelination relapse occurred in a single patient four years after the first event. Whole-exome sequencing (WES) was performed in all patients: four of them disclosed biallelic pathogenic variants in RNASEH2B (three homozygous p.Ala177Thr and one compound heterozygous p.Ala177Thr/p.Gln58*) and in two of them the same homozygous deleterious variants in RNASEH2A (p.Ala249Val). Conclusions: This report expands the phenotype of AGS to include subacute developmental regression with partial clinical and neuroimaging improvement. Those clinical features might be misdiagnosed as ADEM.
  • article 0 Citação(ões) na Scopus
    Influenceofbloodphenylalaninelevelvariationsonthedevelopmentofexecutivefunctionsandsocialcognitioninchildrenwithphenylketonuria
    (2023) DUARTE, Cristiane Mendes de Almeida; PIAZZON, Flavia Balbo; ROCCO, Isadora Salvador; MELLO, Claudia Berlim de
    Toinvestigatetheperformanceof27childrenwithphenylketonuria(PKU) intestsofExecutiveFunctions( EF) andSocialCognition(SC), andtheirassociationswithmetaboliccontrolinferredbyphenylalanine( Phe) levels. Methods: ThePKUgroupwasdichotomizedaccordingtobaselinePhe-levelsinto;""classicalPKU""( n= 14), withPhe-levelsabove1200mmol/L(> 20mg/dL); and""mildPKU""(n= 13) withPhebetween360and1200mmol/L(6-20mg/dL). TheneuropsychologicalassessmentfocusedontheEFandSCsubtestsoftheNEPSYIIbatteryandintellectualperformance. Childrenwerecomparedtoagematchedhealthyparticipants. Results: ParticipantswithPKUpresentedsignificantlylowerIntellectualQuotient(IQ) comparedtocontrols( p= 0.001). RegardingEFanalysisadjustedbyageandIQ, significantdifferencesbetweengroupswereobservedonlyintheexecutiveattentionsubtests( p= 0.029). TheSCsetofvariableswassignificantlydifferentbetweengroups( p= 0.003), asintheaffectiverecognitiontask(p< 0.001). InthePKUgroup, therelativevariationofPhe-achieved32.1 +/- 21.0%. RelativePhe-variationwascorrelatedonlywithmeasuresofWorkingMemory(p< 0.001), VerbalFluency( p= 0.004), InhibitoryControl(p= 0.035) andTheoryofMind(p= 0.003). Conclusions: PhonologicalVerbalFluency, WorkingMemory, InhibitoryControl, andTheoryofMindwereshowntobemostvulnerablewhenthereisnonidealmetaboliccontrol. VariationsinthelevelofPhemayhaveaselectivenegativeeffectonExecutiveFunctionsandSocialCogni- tion, butnotonintellectualperformance.
  • bookPart
    Triagem neonatal metabólica
    (2023) PIAZZON, Flavia; OLIVATI, Caroline; MELONI, Vera Ayres; ZACHARIAS, Romy Schmidt Brock