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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.
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Hipotensión Intracraneal , Síndrome de Marfan , Masculino , Humanos , Niño , Hipotensión Intracraneal/complicaciones , Hipotensión Intracraneal/terapia , Síndrome de Marfan/complicaciones , Pérdida de Líquido Cefalorraquídeo/complicaciones , Pérdida de Líquido Cefalorraquídeo/terapia , Imagen por Resonancia Magnética , Cefalea/terapiaRESUMEN
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.
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Enfermedad Celíaca , Arteritis de Takayasu , Humanos , Femenino , Niño , Adolescente , Arteritis de Takayasu/diagnóstico , Arteritis de Takayasu/diagnóstico por imagen , Tomografía Computarizada por Tomografía de Emisión de Positrones , Enfermedad Celíaca/complicaciones , Enfermedad Celíaca/diagnóstico , Electrones , Hallazgos IncidentalesRESUMEN
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.
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Faringitis , Escarlatina , Infecciones Estreptocócicas , Tonsilitis , Humanos , Niño , Escarlatina/diagnóstico , Escarlatina/tratamiento farmacológico , Escarlatina/epidemiología , Antibacterianos/efectos adversos , Streptococcus pyogenes , Estudios Retrospectivos , Tonsilitis/tratamiento farmacológico , Faringitis/diagnóstico , Infecciones Estreptocócicas/tratamiento farmacológicoRESUMEN
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.
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Hipotonía Muscular , Simportadores , Humanos , Lactante , Masculino , Discapacidad Intelectual Ligada al Cromosoma X , Transportadores de Ácidos Monocarboxílicos/genética , Hipotonía Muscular/etiología , Hipotonía Muscular/genética , Atrofia Muscular , Simportadores/genética , Hormonas Tiroideas , TirotropinaRESUMEN
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.