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BACKGROUND: Secondary pseudohypoaldosteronism (S-PHA) is a rare condition resulting from renal tubular resistance to aldosterone in children with urinary tract infection (UTI) and/or nephrourological malformations. It is characterized by nonspecific symptoms but with the potential for life-threatening complications. We aim to evaluate the clinical manifestations, diagnostic approach, and therapeutic interventions in children with S-PHA, along with a review of recent publications. METHODS: A retrospective observational descriptive study was conducted on S-PHA cases diagnosed over the last 15 years at a tertiary pediatric nephrology unit. The literature for the last 10 years was reviewed. RESULTS: Twelve patients (10 males, 6 days to 6 months) were identified. Weight loss was the main reason for consultation (50%). Ninety-two percent of patients had an underlying nephrourological pathology and 62% concomitant confirmed UTI. Seven out of 12 children were admitted to the PICU. A subsequent extrapontine myelinolysis was observed in one patient as neurological sequelae. Twenty-one articles related to S-PHA have been identified on PubMed and Embase. CONCLUSIONS: S-PHA should be considered in infants under 6 months of age with UTI and/or CAKUT. Obstructive anomalies and vesicoureteral reflux can be found, affecting both unilateral and bilateral systems. Early medical and surgical interventions are crucial and require close monitoring to avoid iatrogenic complications.
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Intracranial hypotension syndrome (IHS) is attributed to reduced cerebrospinal fluid (CSF) pressure. It may be spontaneous or secondary to a history of trauma or systemic disease. We present the case of an 11-year-old boy, with medical history of Marfan syndrome, with orthostatic headache and persistent vomiting (12 hours) following a fall on the sacrococcygeal region. Magnetic resonance showed extradural fluid collections at dorsal and lumbosacral levels, compatible with CSF leak. The condition was resolved with treatment, but the patient had two new episodes during the follow-up period. Thus, an epidural blood patch was performed two years after the first episode. Although HIS is uncommon in children, it should be suspected in patients with orthostatic headache, particularly if the patient presents a connectivopathy. Few studies have assessed the management of HIS in paediatric age. The case presented here and the reviewed available literature provides further data for these type of cases.
Assuntos
Hipotensão Intracraniana , Síndrome de Marfan , Masculino , Humanos , Criança , Hipotensão Intracraniana/complicações , Hipotensão Intracraniana/terapia , Síndrome de Marfan/complicações , Vazamento de Líquido Cefalorraquidiano/complicações , Vazamento de Líquido Cefalorraquidiano/terapia , Imageamento por Ressonância Magnética , Cefaleia/terapiaRESUMO
BACKGROUND: Takayasu arteritis is a large-vessel vasculitis which affects large-caliber elastic arteries, primarily the aorta and its main branches. It mainly affects women between 20-30 years, so it is rare in children. CASE REPORT: We describe the case of a 15-year-old female who was followed up since she was 9 years old due to celiac disease. At the age of 13, anaemia of chronic disorders associated to elevated C-reactive protein and erythrocyte sedimentation were detected. The patient remained asymptomatic. After excluding other diseases, we requested a positron emission computed tomography (PET-CT); lesions compatible with large-vessel vasculitis were detected. Cardiology evaluation showed an aneurysm in the right coronary artery. Angio-CT suggested Takayasu type III arteritis. CONCLUSIONS: The delay in the diagnosis of Takayasu arteritis in pediatric patients is quite common. In this case, we have found phase II lesions, with no previous phase I symptoms. However, PET-CT allowed the diagnosis of vasculitis, key to the diagnosis of the patient.
INTRODUCCIÓN: La arteritis de Takayasu es una vasculitis de grandes vasos que afecta a las arterias elásticas de gran calibre, fundamentalmente la aorta y sus ramas principales. Ocurre frecuentemente en mujeres entre los 20-30 años, por lo que es muy infrecuente en la edad pediátrica. CASO CLÍNICO: Se presenta el caso de una paciente de 15 años en seguimiento desde los 9 años por enfermedad celiaca. A los 13 años se detectó anemia de trastornos crónicos, elevación de proteína C reactiva y velocidad de sedimentación globular. La paciente permaneció en todo momento asintomática. Tras descartar otros procesos, se solicitó tomografía computarizada por emisión de positrones (PET-TC), donde se detectaron lesiones compatibles con vasculitis de grandes vasos. La valoración por Cardiología evidenció un aneurisma en coronaria derecha. Se realizó angio-TC, que sugirió arteritis de Takayasu tipo III. CONCLUSIONES: Es frecuente un retraso en el diagnóstico de la arteritis de Takayasu en los pacientes pediátricos. En este caso se encontraron lesiones de la fase II sin la presencia de síntomas correspondientes a la fase I. El PET-TC permitió el diagnóstico de vasculitis, clave para el diagnóstico de la paciente.
Assuntos
Doença Celíaca , Arterite de Takayasu , Humanos , Feminino , Criança , Adolescente , Arterite de Takayasu/diagnóstico , Arterite de Takayasu/diagnóstico por imagem , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Doença Celíaca/complicações , Doença Celíaca/diagnóstico , Elétrons , Achados IncidentaisRESUMO
INTRODUCTION: Antibiotherapy regimens for management of acute streptococcal pharyngitis traditionally last 10 days, but the development of resistance to different antimicrobials has motivated the exploration of shorter courses. MATERIAL AND METHODS: We selected patients given a diagnosis of streptococcal pharyngitis in 2 paediatric caseloads of 1 primary care centre between June 2016 and April 2020. We compared outcomes in patients treated with 8- to 10-day courses versus 5- to 7-day courses. RESULTS: The analysis included 350 care episodes (252 patients). Sixty-four percent were managed with 8- to 10-day courses of antibiotherapy (group 1) and 36% with 5- to 7-day courses (group 2). There were no significant differences in the incidence of streptococcal pharyngitis or scarlet fever in the 3 months that followed (OR, 0.98; 95% confidence interval [CI], 0.46-2.03), with similar percentages in both groups (9.8% vs 9.5%). Overall, without differentiating based on the type of infection (streptococcal pharyngitis, scarlet fever or other streptococcal infections), we found similar outcomes (OR, 0.81; 95% CI, 0.41-1.59): 13.4% in group 1 and 11.1% in group 2. We also found no differences in the frequency of adverse events documented in the health records (OR, 0.29; 95% CI, 0.04-2.44): 2.7% in group 1 and 0.8% in group 2. CONCLUSIONS: In our experience, a shorter antibiotic course (5-7 days) is not less effective or more unsafe for management of acute streptococcal pharyngitis than the traditional 10-day course.
Assuntos
Faringite , Escarlatina , Infecções Estreptocócicas , Tonsilite , Humanos , Criança , Escarlatina/diagnóstico , Escarlatina/tratamento farmacológico , Escarlatina/epidemiologia , Antibacterianos/efeitos adversos , Streptococcus pyogenes , Estudos Retrospectivos , Tonsilite/tratamento farmacológico , Faringite/diagnóstico , Infecções Estreptocócicas/tratamento farmacológicoRESUMO
Allan-Herndon-Dudley syndrome is a rare X-linked genetic disorder, caused by a deficiency of the monocarboxylate transporter 8 (MCT8), a specific transporter of thyroid hormones, with functions mainly at the brain level. The syndrome produces an early onset of severe neurological disorder, in which hypotonia predominates. OBJECTIVE: To present a rare case with an unexpected diagnosis, highlighting the usefulness of requesting a complete thyroid profile in every hypotonic male infant without a specific cause. CLINICAL CASE: A 10-month-old male infant with severe axial and peripheral hypotonia, global weakness with little spontaneous mobility, without head support or stable sitting. Complete metabolic and peripheral neurophysiological studies were performed. Genetic studies for spinal muscular atrophy, Prader Willi syndrome, and myotonic dystrophy were also performed. The trio exome analysis detected a probably pathogenic variant c.359C>T;p.(Ser120Phe), hemizygous in exon 1 of the SLC16A2 gene, inherited from the mother. Thyroid abnormalities as increased free triiodothyronine (T3) and thyroid-stimulating hormone (TSH), and delayed myelination were ob served. CONCLUSIONS: MCT8 deficiency should be considered in the case of the male infant with unex plained hypotonia and weakness without a determined cause. The diagnosis is guided by a thyroid profile including free T3 hormone, because it presents a characteristic thyroid profile with decreased free thyroxine (T4), increased free T3, and normal or slightly elevated TSH levels. In this case, the implementation of the trio exome analysis allows establishing an early certain diagnosis.
Assuntos
Hipotonia Muscular , Simportadores , Humanos , Lactente , Masculino , Deficiência Intelectual Ligada ao Cromossomo X , Transportadores de Ácidos Monocarboxílicos/genética , Hipotonia Muscular/etiologia , Hipotonia Muscular/genética , Atrofia Muscular , Simportadores/genética , Hormônios Tireóideos , TireotropinaRESUMO
El síndrome de hipotensión intracraneal (SHI) es consecuencia del descenso de la presión de líquido cefalorraquídeo (LCR), espontáneo o secundario a antecedente traumático o enfermedad sistémica.Presentamos el caso de un niño de 11 años con cefalea ortostática y vómitos de 12 horas de evolución tras una caída sobre región sacrocoxígea; antecedente de síndrome de Marfan. La resonancia craneomedular mostró colecciones líquidas extradurales a nivel dorsal y lumbosacro compatibles con fístula de LCR. El cuadro se resolvió tras tratamiento, pero hubo dos nuevos episodios durante el seguimiento, por lo que se aplicó un parche hemático epidural a los dos años del inicio.Aunque el SHI es infrecuente en niños, debe sospecharse ante pacientes con cefalea ortostática, especialmente si existe patología favorecedora como enfermedades del tejido conectivo. Existe poca evidencia sobre el manejo en edad pediátrica, por lo que se presenta este caso y se realiza una revisión de la literatura.(AU)
Intracranial hypotension syndrome (IHS) is attributed to reduced cerebrospinal fluid (CSF) pressure. It may be spontaneous or secondary to a history of trauma or systemic disease. We present the case of an 11-year-old boy, with medical history of Marfan syndrome, with orthostatic headache and persistent vomiting (12 hours) following a fall on the sacrococcygeal region. Magnetic resonance showed extradural fluid collections at dorsal and lumbosacral levels, compatible with CSF leak. The condition was resolved with treatment, but the patient had two new episodes during the follow-up period. Thus, an epidural blood patch was performed two years after the first episode.Although HIS is uncommon in children, it should be suspected in patients with orthostatic headache, particularly if the patient presents a connectivopathy. Few studies have assessed the management of HIS in paediatric age. The case presented here and the reviewed available literature provides further data for these type of cases.(AU)
Assuntos
Humanos , Masculino , Criança , Hipotensão Intracraniana/diagnóstico , Hipotensão Intracraniana/tratamento farmacológico , Síndrome de Marfan , Cefaleia , Fístula , Líquido Cefalorraquidiano , Hipotensão Ortostática , Resultado do Tratamento , Pacientes Internados , Exame Físico , Avaliação de Sintomas , Doenças do Sistema NervosoRESUMO
Resumen Introducción: La arteritis de Takayasu es una vasculitis de grandes vasos que afecta a las arterias elásticas de gran calibre, fundamentalmente la aorta y sus ramas principales. Ocurre frecuentemente en mujeres entre los 20-30 años, por lo que es muy infrecuente en la edad pediátrica. Caso clínico: Se presenta el caso de una paciente de 15 años en seguimiento desde los 9 años por enfermedad celiaca. A los 13 años se detectó anemia de trastornos crónicos, elevación de proteína C reactiva y velocidad de sedimentación globular. La paciente permaneció en todo momento asintomática. Tras descartar otros procesos, se solicitó tomografía computarizada por emisión de positrones (PET-TC), donde se detectaron lesiones compatibles con vasculitis de grandes vasos. La valoración por Cardiología evidenció un aneurisma en coronaria derecha. Se realizó angio-TC, que sugirió arteritis de Takayasu tipo III. Conclusiones: Es frecuente un retraso en el diagnóstico de la arteritis de Takayasu en los pacientes pediátricos. En este caso se encontraron lesiones de la fase II sin la presencia de síntomas correspondientes a la fase I. El PET-TC permitió el diagnóstico de vasculitis, clave para el diagnóstico de la paciente.
Abstract Background: Takayasu arteritis is a large-vessel vasculitis which affects large-caliber elastic arteries, primarily the aorta and its main branches. It mainly affects women between 20-30 years, so it is rare in children. Case report: We describe the case of a 15-year-old female who was followed up since she was 9 years old due to celiac disease. At the age of 13, anaemia of chronic disorders associated to elevated C-reactive protein and erythrocyte sedimentation were detected. The patient remained asymptomatic. After excluding other diseases, we requested a positron emission computed tomography (PET-CT); lesions compatible with large-vessel vasculitis were detected. Cardiology evaluation showed an aneurysm in the right coronary artery. Angio-CT suggested Takayasu type III arteritis. Conclusions: The delay in the diagnosis of Takayasu arteritis in pediatric patients is quite common. In this case, we have found phase II lesions, with no previous phase I symptoms. However, PET-CT allowed the diagnosis of vasculitis, key to the diagnosis of the patient.
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Introducción: El tratamiento antibiótico clásico de la faringoamigdalitis aguda estreptocócica es una pauta de 10 días; sin embargo, la aparición de resistencias antibióticas induce a explorar pautas más cortas. Material y métodos: Seleccionamos a aquellos pacientes diagnosticados de faringoamigdalitis aguda estreptocócica en 2 cupos de pediatría de un centro de salud entre junio de 2016 y abril de 2020. Se compararon los resultados de aquellos que recibieron tratamiento 8-10 días con el de aquellos que lo recibieron 5-7 días. Resultados: Se analizaron 350 episodios (252 pacientes). El 64% recibieron tratamiento durante 8-10 días (grupo 1) y el 36% durante 5-7 días (grupo 2). No se observaron diferencias significativas en la aparición de faringoamigdalitis aguda estreptocócica o escarlatina los 3 meses posteriores (OR 0,97; IC 95%: 0,46-2,03), con una proporción similar en ambos grupos (9,8 vs. 9,5%). Sin diferenciar el tipo de infección (faringoamigdalitis aguda estreptocócica, escarlatina u otro tipo de infección streptocócica), se observaron resultados similares (OR 0,81; IC 95%: 0,41-1,59) con el 13,4% en el grupo 1 y el 11,1% en el 2. Respecto a la aparición de reacciones adversas medicamentosas recogidas en la historia clínica, fue de 2,7% en el grupo 1 y 0,8% en el 2 (OR 0,29; IC 95%: 0,04-2,44). Conclusiones: Según nuestra experiencia, la pauta antibiótica corta (5-7 días) en faringoamigdalitis aguda estreptocócica no es menos efectiva ni más insegura que la clásica pauta de 10 días. (AU)
Introduction: Antibiotherapy regimens for management of acute streptococcal pharyngitis traditionally last 10 days, but the development of resistance to different antimicrobials has motivated the exploration of shorter courses. Material and methods: We selected patients given a diagnosis of streptococcal pharyngitis in 2 paediatric caseloads of one primary care centre between June 2016 and April 2020. We compared outcomes in patients treated with 8- to 10-day courses versus 5- to 7-day courses. Results: The analysis included 350 care episodes (252 patients). Sixty-four percent were managed with 8- to 10-day courses of antibiotherapy (group 1) and 36% with 5- to 7-day courses (group 2). There were no significant differences in the incidence of streptococcal pharyngitis or scarlet fever in the 3 months that followed (OR, 0.98; 95% CI: 0.46-2.03), with similar percentages in both groups (9.8 vs. 9.5%). Overall, without differentiating based on the type of infection (streptococcal pharyngitis, scarlet fever or other streptococcal infections), we found similar outcomes (OR, 0.81; 95% CI: 0.41-1.59): 13.4% in group 1 and 11.1% in group 2. We also found no differences in the frequency of adverse events documented in the health records (OR, 0.29; 95% CI: 0.04-2.44): 2.7% in group 1 and 0.8% in group 2. Conclusions: In our experience, a shorter antibiotic course (5-7 days) is not less effective or more unsafe for management of acute streptococcal pharyngitis than the traditional 10-day course. (AU)
Assuntos
Humanos , Masculino , Feminino , Criança , Streptococcus pyogenes , Resistência Microbiana a Medicamentos , Faringite/tratamento farmacológico , Estudos Retrospectivos , Epidemiologia Descritiva , EscarlatinaRESUMO
Se describe el caso de una paciente de 9 años que presenta, durante el seguimiento por infección por SARS-CoV-2, incapacidad para la deambulación por dolor de extremidades inferiores. Ante una clínica y exploración compatible con miositis, se realiza analítica sanguínea en la que se observa una elevación de creatinfosfoquinasa (CPK). La paciente presenta buena evolución con tratamiento sintomático. A propósito del caso se realiza una revisión bibliográfica de los casos pediátricos de miositis asociados a la infección por SARS-CoV-2 (AU)
We describe the case of a 9-year-old patient who presented with inability to walk due to lower extremity pain in the follow-up of infection by SARS-CoV-2. Since the manifestations and findings of the examination were compatible with myositis, a blood test was performed that evinced elevation of creatine phosphokinase. The patient had a favourable outcome with symptomatic treatment. In the context of this case, we conducted a literature review of paediatric cases of myositis associated with SARS-CoV-2 infection. (AU)
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Humanos , Feminino , Criança , Infecções por Coronavirus/complicações , Pneumonia Viral/complicações , Pandemias , Miosite/virologia , Miosite/diagnósticoRESUMO
El afta de Bednar o afta pterigoide es una úlcera oral de forma redondeada u ovalada, originada por presión mecánica. Suele ser bilateral y se localiza en el tercio posterior del paladar. Clínicamente puede pasar desapercibida o producir dolor e irritabilidad; en ocasiones también puede dificultar la alimentación de recién nacidos y lactantes. No precisa realizar pruebas complementarias. El tratamiento consiste en retirar el estímulo que las produce. Se presenta el caso de un lactante con afta de Bednar. Su diagnóstico se prolongó en el tiempo y fue estudiado por varios especialistas. Inicialmente consultó por irritabilidad y rechazo de la ingesta, con posterior apreciación de dos aftas orales. Se trata de una entidad que el pediatra debe conocer, para evitar errores de diagnóstico y la solicitud de pruebas no indicadas o derivaciones innecesarias (AU)
Bednars aphthae, or pterygoid aphthae, is a round or oval shaped oral ulcer caused by mechanical pressure. It is usually bilateral and it is located in the posterior third of the palate. Clinically it can be unnoticed or cause pain and irritability. Sometimes it can also make it difficult for newborns and infants to be feed. No additional tests are required. Treatment consists on removing the traumatic agent that produces them. We report a case of Bednars ulcer in an infant. The diagnosis lasted over time and the patient was studied by several doctors. Initially due to irritability and difficult to feed, after due to the appearance of two oral ulcers. It is an entity that paediatricians should be aware of, in order to avoid diagnostic errors and the ordering of tests that are not indicated or unnecessary referrals (AU)
Assuntos
Humanos , Masculino , Lactente , Estomatite Aftosa/diagnóstico , Estomatite Aftosa/etiologiaRESUMO
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