Archivos argentinos de pediatria最新文献

Inborn errors of immunity (IEI) are a heterogeneous group of hereditary disorders that affect in number and/or function different components of the immune system, resulting in an increased risk and severity of infections, autoimmune diseases, allergic manifestations, autoinflammation and malignancy. Inactivated vaccines are generally safe in these patients, but may be ineffective in some cases, due to difference in immunogenicity. However, live viral and bacterial vaccines may lead to disease, with high morbidity and mortality, so it is essential a previous immunological work-out. In this document, the Pediatric Immunology Work Group of the Sociedad Argentina de Pediatría summarizes recommendations about immunizations in patients with IEI, their household contacts, as well as in patients under immunosuppressive treatment and hematopoietic stem cell transplant recipients.

Kabuki syndrome is a rare genetic disorder characterized by distinctive facial features, intellectual disability, skeletal abnormalities, short stature, and dermatological disorders, among other clinical manifestations. There is an increased risk of associated autoimmune diseases (such as thrombocytopenic purpura, hemolytic anemia, vitiligo, and type 1 diabetes). Type 1 diabetes is caused by autoimmune destruction of the beta cells of the pancreas and is the most common form of diabetes in children and adolescents. We present three pediatric patients with a diagnosis of Kabuki syndrome and type 1 diabetes, two of whom have an associated second autoimmune disease.

Introduction. Sleep-disordered breathing (RBD), from habitual snoring to obstructive sleep apnea syndrome (OSAS), can influence brain functioning by affecting executive functions such as attention and inhibitory control. Objective. To analyze the association between snoring and executive functions, specifically attention, impulsivity/inhibitory control in Argentine adolescents. Population and methods. In 2018, a cross-sectional study was conducted on 831 adolescents attending public and private schools in La Pampa. Sleep duration, snoring, and the risk of OSAS were assessed using the pediatric sleep questionnaire (PSQ) and executive functions (attention and inhibitory control) using the Go/No-Go test. The association between SRT and executive functions was performed using a robust regression model adjusted for body mass index, hours of sleep, and physical activity. Results. About 10% of the participants were habitual snorers, and about 7% were at risk of OSA (positive PSQ), with no significant differences between sexes. Errors of commission (No-Go errors) (β= 2.06; -3.20, -0.92) and errors of omission (Go errors) (β= -0.66; -1.31, -0.01) were significantly higher in snorers vs.non-snorers. In addition, individuals at risk for OSAS showed significantly more commission errors (NoGo errors) than those without OSAS risk (β= -1.98; -3.31, -0.66). Conclusions. The associations between snoring and inattention and impulsivity, and between the risk of sleep apnea and lower inhibitory control found in the present study suggest alterations in executive functions due to sleep disorders.

Advances in molecular biology achieved during the last years have allowed us to know the genes involved in biliary secretion and the mutations capable of generating cholestasis. The mechanisms involved in forming bile and its circulation have been clarified. According to the biology of biliary secretion, we classify the genetic causes of cholestasis as follows: 1) transport abnormalities in canalicular or basolateral membranes, 2) alterations in intracellular vesicle transit, 3) increased paracellular permeability, 4) mutations in nuclear receptors, 5) cholangiopathies, and 6) hepatocellular diseases, due to disturbance of the function of intracellular organelles or errors of metabolism. This physiopathological classification of chronic cholestasis in childhood will facilitate pediatricians' diagnostic guidance and timely specialized referrals, as patients should receive early and appropriate treatment for its complications.

Thromboembolic events incidence is low in pediatrics; high suspicion and explicit management algorithms are essential. We present a 12-year-old female patient with two weeks of dyspnea, orthopnea, and ankle edema. Tests showed metabolic acidosis, hyperlactatemia, elevated D-dimer, and positive SARS-CoV-2 CRP. The echocardiogram showed severe right ventricular dysfunction and supra-systemic pulmonary hypertension. Chest CT angiography showed extensive bilateral pulmonary thromboembolism. Anticoagulant therapy was started. She presented with hemodynamic instability. Adrenaline, norepinephrine, milrinone, and nitric oxide were started. The clinical picture was extremely severe in the first 24 hours. It was decided to perform systemic thrombolysis with alteplase, which led to an improvement. Cardiorespiratory stabilization and anticoagulation are the mainstays of therapy in massive pulmonary thromboembolism. Fibrinolytic therapy is used in selected high-risk cases. In this patient, systemic reperfusion therapy with alteplase was performed with no significant complications.

Non-immune hydrops fetalis represents a diagnostic challenge in high-risk pregnant women. Vertical infection with human parvovirus B19 (B19V) is a possible cause. National guidelines propose maternal serologic screening (IgG/IgM), which may be insufficient in some situations. We report a case of vertical B19V infection with difficulties in prenatal diagnosis. Preterm newborn, normal weight (2950 g), born to a 30-year-old mother with anemia and hydrops fetalis (week 17). Cardiac, chromosomal, isoimmunization-Rh, and usual infectious causes (TORCH) were ruled out. Maternal serology for B19V showed IgG+ and IgM-, and the diagnosis was dismissed. The newborn presented abdominal distension (ascites), anemia, and jaundice. Postnatal results confirmed the diagnosis with DNA+ for B19V. Discharge at 17 days with good evolution. The protocol for B19V screening in vertical infection needs to be revised by incorporating early molecular studies (PCR) from the early stages of gestation to optimize the diagnosis and treatment of patients with this congenital infection.

Dyschezia and constipation in infants are functional digestive disorders that have defecatory difficulty in common and differ fundamentally in the age of presentation and the consistency of the stool. Both disorders generate concern in parents and frequent consultations with the health system. Dyschezia is a self-limited functional digestive disorder resulting from incoordination in the evacuation mechanism. On the other hand, functional constipation is fundamentally linked to retentive behavior related to pain and fear of evacuation and sometimes requires nutritional and/or pharmacological intervention. Studies that observed the natural history of children with dyschezia showed that there is no causal relationship between dyschezia and functional constipation, so they should be considered two different entities. Both require, for their better management, family support through educational, clear, and reassuring messages to be included in the medical consultation.

Nutcracker syndrome is a vascular anomaly consisting of external compression of the left renal vein by the superior mesenteric artery and the aorta artery. It may manifest with recurrent abdominal or pelvic pain, flank pain, macro- or microscopic hematuria, gonadal varices, or asymptomatic. We present a 10-year-old female patient with chronic progressive pain of more than two years of evolution in the left flank and radiating to the pelvic area. A diagnosis of nutcracker syndrome was made. The surgical resolutuion consisted in the transposition of the left ovarian vein to the left iliac vein. The patient remains asymptomatic at one year of follow-up. In selected patients, venous decongestion of the left renal vein to the inferior vena cava using the ovarian vein is a low-complexity therapeutic possibility with a low incidence of complications.

Van Wyk-Grumbach syndrome is a rare form of severe hypothyroidism. We present a 10.9-year-old girl who consulted for genital bleeding, Tanner stage 2, and clinical manifestations of hypothyroidism. Severe hypothyroidism was confirmed, secondary to chronic lymphocytic thyroiditis. A pelvic ultrasound showed bilateral evidence of cystic ovarian masses. The hormonal profile confirmed peripheral precocious puberty secondary to hypothyroidism. A pituitary MRI showed significant pituitary elongation due to thyrotropic hyperplasia. After initiating treatment with thyroid hormone, there was a notable clinical improvement and resolution of the adnexal masses and pituitary hyperplasia. The pediatrician must be able to identify signs and symptoms associated with thyroid dysfunction and prompt referral to a pediatric endocrinologist to avoid the appearance of severe conditions such as the one presented.