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.
We describe the case of a previously healthy 8-year-old girl presenting with a 1-year history of iron deficiency anemia. There was no report of hematemesis, abdominal pain or melena. Laboratory work-up excluded iron malabsorption as the underlying cause. Therefore, endoscopic evaluation was performed to exclude gastrointestinal blood loss, which revealed the presence of a 7 mm reddish lesion located within the ampulla of Vater. Capsule endoscopy excluded alternative diagnoses and concomitant lesions. Histopathological examination confirmed the diagnosis of pyogenic granuloma. The young age of the child and the benign nature of this lesion along with the absence of complications favored conservative management. Pyogenic granuloma is a benign vascular lesion that presents as a polypoid red mass. In the gastrointestinal tract, it is a rare condition and occurs more commonly in the elderly. The most common sites are the small intestine, esophagus, and colon, but they can occur throughout the entire gastrointestinal tract with a propensity to bleed that may cause iron deficiency anemia. In pediatric age patients, there are few reports of gastrointestinal pyogenic granulomas, most of which occur in the colon and rectum. Its identification and location in the ampulla of Vater is an exceptional finding.
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