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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive and fatal multisystem metabolic disorder. It presents with wide-ranging gastrointestinal and neurologic symptoms. It is caused by a mutation in the TYMP gene which impairs thymidine phosphorylase (TP) activity, therefore leading to the accumulation of thymidine and deoxyuridine in plasma and tissues. Thus, MNGIE can be diagnosed by findings of high levels of thymidine and deoxyuridine. Herein, we present the case of a 40-year-old male who presented with diarrhea, vomiting, and abdominal pain, severe weight loss, neurologic deficits, and distal motor weakness progressing over a period of 13 years. The combination of this broad clinical picture along with results of magnetic resonance imaging, electromyography, colonic biopsies, genetic testing, and elevated plasma and tissue thymidine and deoxyuridine levels confirmed Case Tawk et al.: Clinicopathology and Diagnosis Delay in a 40-Year-Old with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)125 the diagnosis of MNGIE. TYMP gene mutation impairs TP function. TP mutations in the nuclear DNA lead to mitochondrial DNA deletions causing mitochondrial failure and ultimately cell death. Treatment modalities are targeting the restoration of TP activity or aiming to decrease the high levels of thymidine and pyrimide. However, diagnosing this disease is still a challenge and often overdue. This patient's 13-year delay in diagnosis shows the importance of a complete neurological exam and muscle strength testing in patients with gastrointestinal symptoms. The diagnosis of MNGIE requires interdepartmental collaborative work for diagnosis delay prevention and for optimal patient care.

Introduction The hallux valgus deformity is a complex deformity of the first ray of the foot, with more than 100 procedures developed for its treatment. The aim of this retrospective study was to assess the clinical and radiographic outcomes of a modified Mitchell's technique. Methods Between 2007 and 2018, 75 patients underwent the procedure. Clinical results were assessed by the AOFAS score. Radiological studies were evaluated by measuring pre-operative and post-operative HVA and IMA angles as well as the relative shortening of the first metatarsal. Results Of the initial 75 patients, 42 patients remained eligible with a total of 67 feet. The mean age and follow-up were 47.8 and 5.2 years respectively. Global AOFAS score improved from 45.3 to 88.8 (p < 0.01). Mean HVA and IMA improved from 37.0 to 10.2 (p < 0,01) and 12.1 to 5.6 (p < 0.01), respectively. The mean metatarsal shortening was 3.0 mm (p < 0.01). The statistical analysis showed no significant correlation between preoperative HVA and IMA angles with postoperative shortening, metatarsalgia, AOFAS scores nor the difference between the preoperative and postoperative AOFAS scores. Conclusion Short- and long-term outcomes of this modified Mitchell's osteotomy have been reported. Compared to other studies, these modifications proved to result in very good clinical and radiological outcomes even in severe cases with HVA>40. It has shown to be reliable, reproducible, and cost-efficient with low complication rates. We would like to highlight the importance of proper patient selection, limited soft tissue stripping, and adherence to the proposed surgical steps to avoid unwanted complications.

Omphalitis is an inflammation of the umbilicus and is seldom diagnosed in adults. It is even rarer when it results from an infection of the urachus, an embryological remnant that connects the umbilicus to the dome of the bladder. Patients with omphalitis present with erythema, edema, tenderness, and purulent discharge form the umbilical stump. Workup includes ultrasonography and CT scan of the abdomen and pelvis. Management consists of antibiotics and incision and drainage of the umbilical abscess, followed by surgical resection of the urachal remnant. In this article, we report a case of omphalitis complicated by umbilical abscess in a 20-year-old female with a urachal remnant.

HighlightsRare case of traumatic bipolar clavicular over an ipsilateral reverse shoulder prosthesis.Open reduction and internal fixation showed satisfactory bony alignement with intact reverse shoulder prosthesis.Post operative rehabilitation is of great importance, taking into consideration the deltoid musculature wish should be addressed for shoulder strengthening over prosthesis.

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