Acute mesenteric ischaemia (AMI) is an uncommon cause of acute hospital admission with high mortality rates (50–90%) that requires early diagnosis and treatment. With the increase in average life expectancy, AMI represents one of the most threatening abdominal conditions in elderly patients. Untreated, AMI will cause mesenteric infarction, intestinal necrosis, an overwhelming inflammatory response and death. Early intervention can reverse this process leading to a full recovery, but the diagnosis of AMI is difficult. The failure to recognise AMI before intestinal necrosis has developed is responsible for the high mortality of the disease. Unfortunately, common CT findings in bowel ischaemia are not specific. Therefore, it is often a combination of nonspecific clinical, laboratory and radiological findings that helps most in the correct interpretation of CT findings. The purpose of this article is to provide an overview of the anatomy, physiology of mesenteric perfusion and discussions of causes, pathogenesis and CT findings in various types of acute bowel ischaemia. Familiarity with various imaging features of mesenteric injury is essential to make a timely diagnosis that will lead to improved patient outcomes.Teaching Points• AMI is a potentially life-threatening disorder whose prognosis depends on early recognition, accurate diagnosis and timely intervention.• Arterial inflow occlusion due to thrombosis or embolisation is the most common cause of AMI.• Four aetiological types of AMI have been associated with different characteristics and risk factors (EAMI, TAMI, VAMI and NOMI).• Physical examination and laboratory findings are not sensitive or specific for diagnosing AMI; therefore, MDCT is still the first-line imaging method in suspected AMI.• Although a number of scoring systems for prognosis have been proposed, these have not been validated in large-scale studies.
Key Clinical MessageAplasia cutis congenita is a disease in which skin, bone, and dura mater can be absent. In majority of the cases it affects the scalp. We report a baby girl born at term with a large scalp and skull defect measuring 9 × 10 cm. Conservative treatment led to complete epithelization.
Mitochondrial biology is one of the fastest growing areas in genetics and medicine. Disturbances in mitochondrial metabolism are now known to play a role not only in rare childhood diseases, but also in many common diseases of aging. In mitochondrial disorders, short stature is a common symptom, but its underlying lesion, growth hormone deficiency, is rarely investigated.
Citrobacter koseri is a rare cause of neonatal meningitis with predisposal for brain abscesses, and therefore responsible for high mortality and serious neurologic sequelae in this age group. We present the evolution and outcome of four cases of C. koseri meningitis. One of them developed brain abscesses and another one died. The cases show the bacteria's propensity for serious brain damage, despite early and adequate treatment, and the high risk of long-term neurologic complications in survivors, which imposes a close follow-up.
Background. Neurofibromatosis type 1 is a multisystemic, progressive disease, with an estimated incidence of 1/3500-2500. Mitochondrial diseases are generally multisystemic and may be present at any age, and the global prevalence is 1/8500. The diagnosis of these disorders is complex because of its clinical and genetic heterogeneity. Case Report. We present a rare case of the association of these two different genetic diseases, in which a heterozygous missense mutation in the NF1 gene was identified which had not yet been described (p.M1149 V). Additionally, the patient is suspected of carrying an unspecified mutation causing respiratory chain complex I deficiency. Clinical presentation included hypotonia, global development delay, reduced growth rate, progressive microcephaly, and numerous café-au-lait spots. Discussion. To the best of our knowledge this is the first report of complex I deficiency in a patient with neurofibromatosis type 1. It is very important to maintain a high index of suspicion for the diagnosis of mitochondrial disorders. In this patient, both the laboratory screening and muscle histology were normal and only the biochemical study of muscle allowed us to confirm the diagnosis.
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