Adams-Oliver syndrome (AOS) is a rare condition defined by combination of cutis aplasia and transverse limb abnormalities. Some authors have described a possible association between this syndrome and portal hypertension (PH) due to hepatoportal sclerosis (HPS). We present a boy with AOS who developed a progressive splenomegaly and hypersplenism at the age of 2 months, and was admitted for acute gastrointestinal bleeding (GI) at the age of 9 months. Subsequently, we documented an extrahepatic portal vein obstruction and esophageal varices. After several episodes of cataclysmic upper GI bleeding a mesentero-portal shunt (MPS) was performed at 10 months. The shunt thrombosed, and after three failed attempts of thrombectomy, it was removed. One month later a splenorenal shunt was performed, and this closed spontaneously by 3 years. The patient suffered from ischemic stroke after placing the first shunt, and has spastic diplegia, left frontal lobe epilepsy, hyperactivity and attention deficit disorder, and severe psychomotor delay. At 11 years and he presented with chronic liver failure and hyperammonemia and coagulopathy. We hypothesize that there may be an early embryonic vascular abnormality (vascular disruption) that may explain these vascular phenomena.
Objectives: Autoimmune gastritis (AIG) is a chronic inflammatory condition of the gastric mucosa, mainly described in adults presenting with pernicious anemia. It results from antibody-mediated destruction of parietal cells, but the precise initiating event is unknown. The pathogenicity of Helicobacter pylori (H pylori) has been suggested but not established. This study aimed to better characterize AIG in pediatric patients and to address the possible role of H pylori infection. Methods: Descriptive single-center study, retrospectively describing 20 patients with a diagnosis of AIG based on positivity for anti-parietal cell autoantibodies, in addition to analytical and/or histological findings of oxyntic mucosa atrophy. Results: In the majority (18/20), AIG diagnosis was suggested during investigation of refractory iron-deficient anemia. One patient had dyspepsia and none of the others had gastrointestinal symptoms. Fifty-five percent (11/20) were H pylori positive, but there were no significant differences regarding mean hemoglobin values at presentation (10.6 ± 2.5 vs 9.5 ± 1.0 g/dL, P > 0.05), analytical indicators of gastric atrophy (gastrin, 564.4 ± 184 vs 721.2 ± 220.6 pg/mL, P > 0.05), or in the presence or the grade of oxyntic mucosa atrophy. Conclusions: Our findings highlight that AIG may have an age-dependent presentation; thus, we can consider a pediatric phenotype that in contrast to adults, is manifested by refractory iron-deficient anemia and associated with parietal cell autoantibody positivity, but not intrinsic factor autoantibodies. A correlation between H pylori and AIG was not evident in the current study and it is still unclear whether H pylori is a trigger for AIG.
We have carefully read the article "Superior mesenteric artery syndrome: an uncommon cause of intestinal obstruction" by José Barquín-Yagüez et al. and we would like to report one case with the same diagnosis but with another etiology.
Infantile pyknocytosis (IP) is an under-recognized hematological entity of newborns that can cause a severe neonatal hemolytic anemia. A careful, prompt, and accurate peripheral blood smear examination is essential to establish the diagnosis. Here we describe the clinical features and histological parameters of 1 case of IP. Spontaneous resolution usually occurs by 4 to 6 months, but red blood cell transfusion may be needed if the anemia is severe.
Dysphagia lusoria (lusus naturae, latin for "freak of nature") describes dysphagia because of vascular compression of the esophagus. Symptoms, when present, occur at the two extremes of life. Owing to the more flexible and compressible nature of the trachea, children usually present with respiratory symptoms, in contrast to adults, who more often present with dysphagia. Here, we report the case of a six-year-old child presenting with a history of progressive dysphagia without respiratory symptoms. A barium esophagogram showed a diagonal impression in the proximal esophagus, while at esophagogastroduodenoscopy there was an extrinsic pulsatile bulging area suggesting an extrinsic compression by an aberrant vessel. Angio-CT (computed tomography) scan confirmed the presence of an aberrant right subclavian artery.
Background - Premature complexes are common electrocardiographic findings in daily clinical practice that require further evaluation. Investigation may sometimes be complex and expensive. The aim of our study was to analyze variables associated with premature beats identified in outpatients referred from a primary care facility. Methods – We performed a cross-sectional study of 407 outpatients (aged 55.8±11years; 56% women) who were followed by general practitioners and were referred for resting 12-lead electrocardiograms for a routine clinical follow-up. After signing informed consent, patients answered a questionnaire and underwent physical examinations, laboratory diagnostics, transthoracic echocardiograms and 24-hour Holter monitoring to evaluate for the presence of premature complexes. After the univariate analyses, logistic regression analyses were performed with adjustment for age, sex, and cardiovascular diseases. Results – Premature complexes distribution revealed that they were frequent but with low density. Premature atrial complexes (≥ 4/hours) were associated with age (Odds Ratio (OD)=1.030, Confidence Interval (CI) 95%=1.002 ─ 1.059, p=0.029), brain natriuretic peptide (BNP) levels > 20mg/dL (OR=4.489, 95%CI=1.918 ─ 10.507, p=0.0005), intraventricular blocks (OR=4.184, 95%CI=1.816 ─ 9.406, p=0.0005) and left atrial diameter (OR=1.065, 95%CI=1.001 ─ 1.134, p=0.046). Premature ventricular complexes (≥ 5/hour) were related to age (OR=1.032, 95%CI=1.010 ─ 1.054, p=0.004), the use of calcium channel blockers (OR=2.248, 95%CI=1.019 ─ 4.954, p=0.045), HDL-cholesterol levels (OR=0.971, 95%CI=0.951 ─ 0.992, p=0.007), BNP levels > 20mg/dL (OR=2.079, 95%CI=0.991 ─ 0.998, p=0.033), heart rate (OR=1.019, 95%CI=1.001 ─ 1.038, p=0.041), left ventricular hypertrophy (OR=2.292, 95%CI=1.402 ─ 3.746, p=0.001) and left ventricular ejection fraction (OR=0.938, 95%CI=0.900 ─ 0.978, p=0.002). Conclusions – Premature complexes had low density and were associated with BNP levels > 20mg/dL, lower levels of HDL-cholesterol, left atrial enlargement and ventricular hypertrophy. The identification of premature complexes on 24-hour Holter monitor recordings of outpatients in a primary public healthcare setting was associated with uncontrolled cardiovascular risk factors that may be addressed with medical advice and therapy in a primary care setting.
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