Polysplenia syndrome is an uncommon condition associating several splenic nodules (sometimes polylobed spleen and cases of normal spleen have been described) with a number of malformations that appear between the fourth and sixth week of embryonic development. Although it has been suggested that genetic, teratogenic, and embryogenic factors may be at fault, the exact etiology remains unclear. Clinically, it is generally asymptomatic or mildly symptomatic. The authors report the case of an 11-months-old infant from a poorly monitored pregnancy. He was admitted to the emergency room for respiratory discomfort in a context of apyrexia. A thoraco-abdominal CT scanner revealed a polysplenia syndrome.
Small bowel volvulus is a real surgical emergency. Early diagnosis and prompt operation are essential to prevent gangrene in the small intestine, which is associated with high morbidity and mortality. This is a life-threatening complication of intestinal malrotations, which is defined by abnormal twisting of a loop of small bowel around the axis of its own mesentery during embryologic development [1]. Clinical signs are represented by the high neonatal obstruction syndrome. Imaging has an essential role in diagnosis. Abdominal X-Ray shows marked distension of the intestines concerning for acute obstruction, however it can further lead to missed or delayed diagnoses. The associated abdominal Doppler ultrasound confirm the diagnosis of volvulus by showing “whirlpool sign”. This sign corresponds to a clockwise wrapping of the superior mesenteric vein and the mesentery around the superior mesenteric artery.
Introduction: Treacher Collins syndrome (TCS) is a congenital craniofacial morphogenesis disorder of autosomal dominant inheritance, which symptoms vary greatly ranging from almost unnoticeable to severe. The most common clinical features include hypoplasia of the malar bones and the lower jaw, antimongoloid slanting of palpebral fissures, and ear abnormalities. Imaging, especially computed tomography (CT), enables both a quantitative and qualitative analysis of the malformations, allowing the diagnosis and the planning of surgical interventions.Case Report: We report a case of a fully expressed Treacher Collins syndrome in a 3-month-old male child brought by his mother for dental malocclusion causing difficulties in breastfeeding. The examination revealed hypertelorism with antimongoloid slanting of palpebral fissures, hypoplasia of the malar and zygomatic bones, the mandible, and a microtia with no external auditory canal identified. The CT of the facial area revealed bilateral and symmetrical hypoplasia of the zygomatic bones, the mandible, the maxillary bones, and the temporal bone with agenesis of the bony external auditory canals. Conclusion:Treacher Collins syndrome is a malformative craniofacial congenital disorder that can be well managed if the diagnosis is done early.
We report a case of 6-month-old infant presented with abdominal distension in whom an abdominal ultrasound and hepatic magnetic resonance imaging (MRI) revealed a large hepatic mass of malignant appearance.
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