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1.
J Fungi (Basel) ; 10(4)2024 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-38667947

RESUMO

BACKGROUND: Pneumocytis jirovecii pneumonia (PJP) has high mortality rates in immunocompromised children, even though routine prophylaxis has decreased in incidence. The aim of this case series is to present the radiological and clinical pathway of PJP in a pediatric population. DESCRIPTION OF CASES: All PJP cases in non-HIV/AIDS patients diagnosed at Istituto Giannina Gaslini Pediatric Hospital in Genoa (Italy) from January 2012 until October 2022 were retrospectively evaluated. Nine cases were identified (median age: 8.3 years), and of these, 6/9 underwent prophylaxis with trimethoprim/sulfamethoxazole (TMP/SMX; five once-a-week schedules and one three times-a-week schedule), while 3/9 did not receive this. PJP was diagnosed by real-time PCR for P. jirovecii-DNA in respiratory specimens in 7/9 cases and two consecutive positive detections of ß-d-glucan (BDG) in the serum in 2/9 cases. Most patients (6/8) had a CT scan with features suggestive of PJP, while one patient did not undergo a scan. All patients were treated with TMP/SMX after a median time from symptoms onset of 3 days. In 7/9 cases, empirical TMP/SMX treatment was initiated after clinical suspicion and radiological evidence and later confirmed by microbiological data. Clinical improvement with the resolution of respiratory failure and 30-day survival included 100% of the study population. DISCUSSION: Due to the difficulty in obtaining biopsy specimens, PJP diagnosis is usually considered probable in most cases. Moreover, the severity of the clinical presentation often leads physicians to start TMP/SMX treatment empirically. BDG proved to be a useful tool for diagnosis, and CT showed good accuracy in identifying typical patterns. In our center, single-day/week prophylaxis was ineffective in high-risk patients; the three-day/week schedule would, therefore, seem preferable and, in any case, should be started promptly in all patients who have an indication of pneumonia.

2.
J Neurol ; 270(10): 5034-5047, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37400659

RESUMO

BACKGROUND: Encephalitis is an uncommon but severe disorder due to an inflammation of the brain parenchyma, usually diagnosed on clinical, laboratory, electroencephalographic, and neuroradiological features. New causes of encephalitis have been reported in recent years, so diagnostic criteria have changed over time. We report on a single-center experience of a pediatric Hospital, the hub of its region, over 12 years (2008-2021), with the evaluation of all children managed for acute encephalitis. METHODS: We retrospectively reviewed clinical, laboratory, neuroradiological, and EEG data from the acute phase and outcome of all immunocompetent patients diagnosed with acute encephalitis. According to the newly proposed criteria for pediatric autoimmune encephalitis, we divided patients into infectious, definite autoimmune, probable autoimmune, and possible autoimmune, and performed a comparison between the different groups. RESULTS: 48 patients (26 females, mean age 4.4 years), 19 with infections, and 29 with autoimmune encephalitis, were included. Herpes simplex virus 1 encephalitis was the most frequently identified etiology followed by anti-NMDA receptor encephalitis. Movement disorders at onset and a longer hospital stay were observed more frequently in autoimmune compared to infectious encephalitis (p p < 0.001 and p = 0.001, respectively). Among the autoimmune group, children who started immunomodulatory treatment earlier (within 7 days from onset) had more frequent complete functional recovery (p = 0.002). CONCLUSIONS: Herpes virus and anti-NMDAR encephalitis are the most frequent etiologies within our cohort. Clinical onset and course are extremely variable. Since early immunomodulatory treatment was associated with a better functional outcome, our data confirm that a timely diagnostic classification in definite, probable, or possible autoimmune encephalitis can help the clinician in a successful therapeutic approach.


Assuntos
Encefalite Antirreceptor de N-Metil-D-Aspartato , Doença de Hashimoto , Feminino , Humanos , Criança , Pré-Escolar , Estudos Retrospectivos , Encefalite Antirreceptor de N-Metil-D-Aspartato/diagnóstico , Encéfalo/diagnóstico por imagem
3.
Neuropediatrics ; 53(1): 61-64, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34327697

RESUMO

INTRODUCTION: In the last few months, some pediatric cases with neurological and neuroradiological pictures related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections have been reported, often associated with multisystem inflammatory syndrome (MIS-C). The most frequently encountered pediatric neurological complications seem to be postinfectious immune-mediated acute disseminated encephalomyelitis (ADEM)-like changes of the brain, myelitis, neural enhancement, and splenial lesions. Concomitant neurological and cardiac involvement has been reported only in MIS-C, although specific clinical details are often not fully available. METHODS: In this case report, a very young child infected with SARs-CoV-2 and diagnosed as longitudinal extensive transverse myelitis with concomitant myo-pericarditis is presented. RESULTS: A previously healthy 7-month-old girl presented with abrupt onset of generalized weakness with inability to sit up. She had had mild respiratory symptoms 1 week earlier. Spinal magnetic resonance imaging (MRI) showed a T2-hyperintense intramedullary lesion extending from C4 to T2, compatible with acute longitudinally extensive transverse myelitis (LETM). Cerebrospinal fluid analysis was negative.Echocardiography and blood tests were suggestive for myo-pericarditis. Real time polymerase chain reaction for SARS-CoV-2 on nasopharyngeal swab sample tested positive. She was promptly treated with high dose of steroids and immunoglobulin with satisfactory clinical response. CONCLUSION: To the evolving literature of neurological complications of SARs-CoV-2 infection, we add the youngest patient described to date with isolated LETM and concomitant cardiac involvement. Our case suggests that clinicians should be aware of this association, although difficult to recognize in infants. Practitioners are encouraged to consider aggressive first-line immunotherapies with the final aim to prevent permanent disability.


Assuntos
COVID-19 , Mielite Transversa , Miocardite , Pericardite , COVID-19/complicações , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Mielite Transversa/diagnóstico por imagem , Mielite Transversa/virologia , Miocardite/diagnóstico por imagem , Miocardite/virologia , Pericardite/diagnóstico por imagem , Pericardite/virologia
4.
Ital J Pediatr ; 47(1): 137, 2021 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-34118959

RESUMO

Eating epilepsy (EE) is a form of reflex epilepsy in which seizures are triggered by eating. It is a rare condition but a high prevalence has been reported in Sri Lanka. In EE, the ictal semiology includes focal seizures with or without secondary generalization or generalized seizures. Some cases are idiopathic while focal structural changes on imaging, if present, are often confined to the temporal lobe or perisylvian region. On the other hand, some cases support the hypothesis of a genetic aetiology. The prognosis of EE is extremely variable due to the different nature of the underlying disorder. We describe two patients with symptomatic eating epilepsy, a 13-year-old boy with a bilateral perisylvian polymicrogyria and a 2-year-old boy with a genetic cause. The presence of structural lesions or the dysfunction of specific cortical regions in the context of a germline genetic alteration might lead to a hyperexcitation fostering the epileptogenesis. We review the available literature to clarify the aetiopathogenesis and the mechanisms underlying EE to improve the diagnosis and the management of these rare conditions.


Assuntos
Ingestão de Alimentos , Epilepsia Reflexa/etiologia , Anormalidades Múltiplas , Adolescente , Anticonvulsivantes/uso terapêutico , Pré-Escolar , Eletroencefalografia , Epilepsia Reflexa/tratamento farmacológico , Epilepsia Reflexa/genética , Humanos , Deficiência Intelectual/complicações , Imageamento por Ressonância Magnética , Masculino , Malformações do Desenvolvimento Cortical/complicações
5.
Arch Dis Child ; 104(8): 768-774, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30948362

RESUMO

OBJECTIVES: To evaluate the causes and management of acute ataxia (AA) in the paediatric emergency setting and to identify clinical features predictive of an underlying clinically urgent neurological pathology (CUNP). STUDY DESIGN: This is a retrospective medical chart analysis of children (1-18 years) attending to 11 paediatric emergency departments (EDs) for AA in an 8-year period. A logistic regression model was applied to identify clinical risk factors for CUNP. RESULTS: 509 patients (mean age 5.8 years) were included (0.021% of all ED attendances). The most common cause of AA was acute postinfectious cerebellar ataxia (APCA, 33.6%). Brain tumours were the second most common cause (11.2%), followed by migraine-related disorders (9%). Nine out of the 14 variables tested showed an OR >1. Among them, meningeal and focal neurological signs, hyporeflexia and ophthalmoplegia were significantly associated with a higher risk of CUNP (OR=3-7.7, p<0.05). Similarly, the odds of an underlying CUNP were increased by 51% by each day from onset of ataxia (OR=1.5, CI 1.1 to 1.2). Conversely, a history of varicella-zoster virus infection and vertigo resulted in a significantly lower risk of CUNP (OR=0.1 and OR=0.5, respectively; p<0.05). CONCLUSIONS: The most frequent cause of AA is APCA, but CUNPs account for over a third of cases. Focal and meningeal signs, hyporeflexia and ophthalmoplegia, as well as longer duration of symptoms, are the most consistent 'red flags' of a severe underlying pathology. Other features with less robust association with CUNP, such as seizures or consciousness impairment, should be seriously taken into account during AA evaluation.


Assuntos
Ataxia/epidemiologia , Serviço Hospitalar de Emergência/estatística & dados numéricos , Adolescente , Ataxia/etiologia , Criança , Serviços de Saúde da Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Itália/epidemiologia , Modelos Logísticos , Masculino , Prontuários Médicos , Estudos Retrospectivos
6.
JIMD Rep ; 38: 23-31, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-28456886

RESUMO

Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene encoding a key enzyme of the glycosylation pathway have been described in families with congenital (CMD) and limb girdle (LGMD) muscular dystrophy with reduced alpha-dystroglycan (α-DG) at muscle biopsy.Patients typically display a combined phenotype of muscular dystrophy, brain malformations, and generalized epilepsy. However, a wide spectrum of clinical severity has been described ranging from classical CMD presentation to children with mild, yet progressive LGMD with or without intellectual disability. Cardiac involvement, including a long QT interval and left ventricular dilatation, has also been described in four cases.Two missense mutations in GMPPB gene, one novel and one already reported, have been identified in a 21-year-old man presenting with elevated CK (38,650 UI/L; normal values <150 UI/L) without overt muscle weakness. Major complaints included limb myalgia, exercise intolerance, and several episodes of myoglobinuria consistent with a form of metabolic myopathy. Muscle biopsy showed only minimal alterations, whereas a marked reduction of glycosylated α-DG was evident.This case further expands the phenotypic spectrum of GMPPB mutations and highlights the importance of exhaustive molecular characterization of patients with reduced glycosylation of α-DG at muscle biopsy.

7.
Biochem Biophys Res Commun ; 430(1): 241-4, 2013 Jan 04.
Artigo em Inglês | MEDLINE | ID: mdl-23146629

RESUMO

We report a 14-year-old-boy with markedly elevated serum creatine kinase (CK) levels, in whom massive triglyceride storage was found in peripheral blood leukocytes and in muscle biopsy. Sequencing PNPLA2, the gene encoding the adipose triglyceride lipase (ATGL) and responsible for the neutral lipid storage disease with myopathy (NLSDM), we identified two heterozygous mutations, including a previously reported nonsense and a novel missense mutation in the patatin domain of the gene. Lipid storage myopathy can be clinically silent in childhood and presenting only with hyperCKemia.


Assuntos
Eritrodermia Ictiosiforme Congênita/genética , Eritrodermia Ictiosiforme Congênita/patologia , Lipase/genética , Erros Inatos do Metabolismo Lipídico/genética , Erros Inatos do Metabolismo Lipídico/patologia , Músculo Esquelético/patologia , Doenças Musculares/genética , Doenças Musculares/patologia , Adolescente , Sequência de Aminoácidos , Humanos , Imageamento por Ressonância Magnética , Masculino , Dados de Sequência Molecular , Mutação
8.
Biochem Biophys Res Commun ; 412(4): 518-21, 2011 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-21741368

RESUMO

We report an 11-year-old boy with exercise-related myopathy, and a novel mutation m.5669G>A in the mitochondrial tRNA Asparagine gene (mt-tRNA(Asn), MTTN). Muscle biopsy studies showed COX-negative, SDH-positive fibers at histochemistry and biochemical defects of oxidative metabolism. The m.5669G>A mutation was present only in patient's muscle resulting in the first muscle-specific MTTN mutation. Mt-tRNA(Asn) steady-state levels and in silico predictions supported the pathogenicity of this mutation. A mitochondrial myopathy should be considered in the differential diagnosis of exercise intolerance in children.


Assuntos
DNA Mitocondrial/genética , Mitocôndrias Musculares/genética , Miopatias Mitocondriais/genética , Músculo Esquelético/metabolismo , RNA de Transferência de Asparagina/genética , RNA/genética , Sequência de Bases , Criança , Tolerância ao Exercício/genética , Humanos , Masculino , Miopatias Mitocondriais/patologia , Miopatias Mitocondriais/fisiopatologia , Dados de Sequência Molecular , Debilidade Muscular/genética , Debilidade Muscular/patologia , Músculo Esquelético/patologia , Conformação de Ácido Nucleico , RNA/química , RNA Mitocondrial , RNA de Transferência de Asparagina/química
9.
J Clin Immunol ; 28 Suppl 1: S73-83, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18368292

RESUMO

INTRODUCTION: Autoinflammatory diseases are a group monogenic inflammatory conditions characterized by an early onset during childhood. DISCUSSION: Under the term "periodic fevers" are gathered some monogenic diseases (familial Mediterranean fever, mevalonate kinase deficiency, and tumor necrosis factor receptor-associated syndrome) characterized by periodic or recurrent episodes of systemic inflammation causing fever often associated with rash, serositis (peritonitis, pleuritis), lymphadenopathy, arthritis, and other clinical manifestations. Systemic reactive (AA) amyloidosis may be a severe long-term complication. Cryopyrinopathies are a group of conditions associated to mutations of the gene Cryopyrin that are responsible for a spectrum of diseases (familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurological cutaneous and articular syndrome) characterized by a chronic or recurrent systemic inflammation variably associated with a number of clinical features, such as urticarial-like rash, arthritis, sensorineural deafness, and central nervous system and bone involvement. Other disorders are dominated by the presence of sterile pyogen abscesses prevalently affecting the skin, joints, and bones (pyogenic disorders). These include pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome, and Majeed syndrome. Finally, some diseases, such as Blau's syndrome, are characterized by the appearance of typical noncaseating granulomatous inflammation affecting the joints, skin, and uveal tract (granulomatous disorders). In the present review, we will focus on the clinical presentation of these disorders in childhood and report on the available therapeutic strategies.


Assuntos
Doenças Autoimunes/diagnóstico , Doenças Autoimunes/terapia , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/terapia , Deficiência de Mevalonato Quinase/diagnóstico , Deficiência de Mevalonato Quinase/fisiopatologia , Proteínas Adaptadoras de Transdução de Sinal/genética , Adulto , Idade de Início , Amiloidose/etiologia , Doenças Autoimunes/complicações , Doenças Autoimunes/genética , Doenças Autoimunes/fisiopatologia , Proteínas Adaptadoras de Sinalização CARD/genética , Proteínas Adaptadoras de Sinalização CARD/imunologia , Criança , Pré-Escolar , Proteínas do Citoesqueleto/genética , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/genética , Febre Familiar do Mediterrâneo/fisiopatologia , Genótipo , Humanos , Lactente , Inflamação , Deficiência de Mevalonato Quinase/complicações , Deficiência de Mevalonato Quinase/genética , Deficiência de Mevalonato Quinase/terapia , Mutação , Pirina , Esteroides/uso terapêutico
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