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1.
researchsquare; 2024.
Preprint em Inglês | PREPRINT-RESEARCHSQUARE | ID: ppzbmed-10.21203.rs.3.rs-3912087.v1

RESUMO

Bacground Methylmalonic acidemia (MMA) secondary to mutase deficiency, mut0, is an inborn error of metabolism causing complete enzyme deficiency. Multisystem Inflammatory Syndrome in Children (MIS-C) is a hyperinflammatory syndrome characterized by fever, inflammation, multiorgan impairment that manifests 14–60 days after the SARS-CoV-2 infection in patients aged < 21 years. Case presentation We describe the clinical case of a 2-year-old child with MMA secondary to mutase deficiency, with the documented homozygous mutation c.2179 C > T of MMUT gene, associated to mut0 phenotype. One month after SARS-CoV-2 infection, he presented fever, rash, significant increase of C-reactive protein (CRP), ferritin, triglycerides, (interleukin) IL-6, PRO-BNP, compatible with the diagnosis of MIS-C. He was treated with intravenous immunoglobulins (2gr/Kg), methylprednisolone (2 mg/Kg/day), with rapid clinical improvement. Ten days later, he showed the worsening of clinical conditions, with the recurrence of fever, vasculitic rash with palmoplantar extension, further increase of ferritin (1033 ug/l), IL-6 (146 pg/ml), PRO-BNP (5117 pg/ml), triglycerides, anemia, thrombocytopenia, metabolic acidosis with hyperlactatemia (180 mg/dl), increased urinary methylmalonic acid (200 mmol/mCreat), multiorgan failure. He was treated with sodium bicarbonate, thiamine, coenzyme Q, vitamin C, methylprednisolone and anakinra (2 mg/Kg/day). Three days after the start of anakinra, he showed a significant improvement of clinical and biochemical parameters and defervescence. 20 days later, a sepsis from Staphylococcus Aureus and Candida Albicans required the interruption of anakinra, with the worsening of the clinical and haematological parameters and the exitus. Conclusions Only a few cases of patients with inherited metabolic diseases (IMD) and MIS-C are described. However, to our knowledge, this is the first case of MIS-C in MMA described. The description of these clinical cases is a precious lesson for pediatricians to manage IMD therapeutic emergencies. Anakinra must be considered as a safe treatment of choice in IMD patients with MIS-C. The use of anakinra in patients with a severe form of MMA is safe and can be employed to treat MIS-C, gaining a substantial clinical and biochemical improvement.


Assuntos
Trombocitopenia , Febre , Síndromes Neoplásicas Hereditárias , Doenças Genéticas Inatas , Ceratodermia Palmar e Plantar , Acidose , COVID-19 , Doenças Metabólicas , Anemia , Erros Inatos do Metabolismo , Sepse , Síndromes Periódicas Associadas à Criopirina , Exantema , Síndrome de Lesch-Nyhan , Inflamação , Hiperlactatemia
2.
researchsquare; 2022.
Preprint em Inglês | PREPRINT-RESEARCHSQUARE | ID: ppzbmed-10.21203.rs.3.rs-2062280.v1

RESUMO

Background: In Sicily, the first wave of COVID-19 showed a low epidemic impact in paediatric population, while the second and the third waves had a higher impact on clinical presentation of COVID-19 in children and a significantly higher severe outcome in patients with multisystem inflammatory syndrome in children (MIS-C), with a frequent life-threatening progression. Methods: We describe a cohort of 22 Sicilian children (11 M; 11 F; age: 1.4-14 years), presenting with clinical features compatible with MIS-C. Patients with negative swab had a history of recent personal or parental infection. Results: The following diagnostic criteria were detected: fever (100%); cheilitis and/or pharyngeal hyperaemia (86%); latero-cervical lymphadenitis (82%); rash (73%); abdominal pain and/or vomiting and/or diarrhoea (64%); conjunctivitis (64%); hands and feet oedema (18%). 59% showed cardiac involvement (6 pericardial effusion; 8 mitral valve insufficiency; 4 insufficiency of two valves; 3 coronary artery lesions CAL)). In all the patients, treatment was started within 72 hours after the admission, with IVIG (2 g/Kg/dose), methylprednisolone (2mg/Kg/day in 73% of patients; 30 mg/Kg/day for 3 days, followed by 2 mg/Kg/day in 27% of patients). 2 patients were treated with enoxaparin. TSS was described in 2 patients, who received additionally vasoactive drugs, albumin, diuretics. Cardiac involvement evolved into the complete resolution of lesions in most of the patients. All the patients were included in a follow-up, to investigate on clinical outcome and resolution of organ involvement. Cardiac valve insufficiency persisted only in 18% of children, CAL persisted only in 33% of children with coronary involvement, however without the evolution into aneurisms. Conclusions: The preferred treatment strategy was more aggressive at the diagnosis of MIS-C, to block the cytokine cascade. Most of our patients, in fact, received a first-line treatment with IVIG and steroids. This approach could explain the favourable prognosis, the rapid restoring of cardiac function also in patients with MAS or shock, and the good outcome during the 10 months follow-up in all the patients.


Assuntos
COVID-19
3.
researchsquare; 2020.
Preprint em Inglês | PREPRINT-RESEARCHSQUARE | ID: ppzbmed-10.21203.rs.3.rs-106975.v1

RESUMO

Background: There is mounting evidence on the existence of a Pediatric Multi-inflammatory Syndrome related to SARS-CoV-2 (PIMS-TS), sharing similarities with Kawasaki Disease (KD). The main outcome of the study were to better characterize the clinical features and the treatment response of PIMS-TS and to explore its relationship with KD determining whether KD and PIMS are two distinct entities. Methods: : The Rheumatology Study Group of the Italian Pediatric Society launched a survey to enroll patients diagnosed with KD (Kawasaki Disease Group – KDG) or KD-like (Kawacovid Group - KCG) disease. Demographic, clinical, laboratory data, treatment information, and patients’ outcome were collected in an online anonymized database (RedCAP). Relationship between clinical presentation and SARS-CoV-2 infection was also taken into account. Chi square test or exact Fisher test and non-parametric Wilcoxon Mann-Whitney test were used to study differences between two groups Results: : One-hundred-forty-nine cases were enrolled, (96 KDG and 53 KCG). KCG children were significantly older and presented more frequently from gastrointestinal and respiratory involvement. Cardiac involvement was more common in KCG, with 60,4% of patients with myocarditis and 37,8% with hypotension/non-cardiogenic shock. Coronary artery abnormalities (CAA) were more common in the KDG. The risk of ICU admission were higher in KCG. Lymphopenia, higher CRP levels, elevated Ferritin and Troponin-T characterized KCG. KDG received more frequently immunoglobulins (IVIG) and acetylsalicylic acid (ASA) (81,3% vs 66%; p=0.04 and 71,9% vs 43,4%; p=0.001 respectively) as KCG more often received glucocorticoids (56,6% vs 14,6%; p<0.0001). SARS-CoV-2 assay more often resulted positive in KCG than in KDG (75,5% vs 20%; p<0.0001). Short-term follow data showed minor complications. Comparing KDG with a KD-Historical Italian cohort (598 patients), no statistical difference was found in terms of clinical manifestations and laboratory data. Conclusion: Our study suggests that SARS-CoV-2 infection might determine two distinct inflammatory diseases in children: KD and PIMS-TS. Older age at onset and clinical peculiarities like the occurrence of myocarditis characterize this multi-inflammatory syndrome. Our patients had an optimal response to treatments and a good outcome, with few complications and no deaths.


Assuntos
Síndrome de Linfonodos Mucocutâneos , Parametrite , COVID-19 , Miocardite , Hipotensão , Doença da Artéria Coronariana , Hiperbilirrubinemia Neonatal , Cardiopatias
4.
researchsquare; 2020.
Preprint em Inglês | PREPRINT-RESEARCHSQUARE | ID: ppzbmed-10.21203.rs.3.rs-97880.v1

RESUMO

Background: The last months were signed by the pandemic diffusion of COVID-19, with the need to minimize the inflow of children and adolescents affected by chronic diseases into the hospitals. Otherwise, paediatricians had to limit visits and to consider a new setting for febrile children.Patients were assisted by telephonic consultations guaranteed by the paediatricians of free choice and by the paediatric specialists. However, patients frequently needed a direct specialistic evaluation in the case of flares, abnormal laboratory parameters and adverse reactions to drugs.Another frequent question was the differential diagnosis of febrile episodes, to distinguish a recurrent fever, linked to autoinflammation, from an infectious disease.We proposed to paediatricians of free choice in west-Sicily a questionnaire about difficulties met in the follow-up of children with rheumatologic diseases, autoinflammatory syndromes, congenital hypothyroidism.Results: 55 questionnaires were collected: the most frequent recorded conditions were periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA syndrome) and Familial Mediterranean Fever; Juvenile Idiopathic Arthritis, congenital hypothyroidism.All the paediatricians needed specialistic support to adequately control flares, adjustment of drugs dosage.Conclusions: Patients and paediatricians need a specialistic support for the follow-up and to reach a good compliance to treatment.This period characterized by smart working, telemedicine, strategies to monitor remotely the patients, can find the winning strategy in the approach of the “Co-working”, a new cooperation between hospital and paediatricians of free choice, in the global follow-up of paediatric chronic diseases.


Assuntos
Doenças Hereditárias Autoinflamatórias , Estomatite Aftosa , Artrite Juvenil , Doenças Reumáticas , Febre , Doença Crônica , COVID-19 , Hipotireoidismo Congênito , Febre Familiar do Mediterrâneo
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