Leigh syndrome by definition is (1) a neurodegenerative disease with variable symptoms, (2) caused by mitochondrial dysfunction from a hereditary genetic defect and (3) accompanied by bilateral central nervous system lesions. A genetic etiology is confirmed in approximately 50% of patients, with more than 60 identified mutations in the nuclear and mitochondrial genomes. Here we review the clinical features and imaging studies of Leigh syndrome and describe the neuroimaging findings in a cohort of 17 children with genetically confirmed Leigh syndrome. MR findings include lesions in the brainstem in 9 children (53%), basal ganglia in 13 (76%), thalami in 4 (24%) and dentate nuclei in 2 (12%), and global atrophy in 2 (12%). The brainstem lesions were most frequent in the midbrain and medulla oblongata. With follow-up an increased number of lesions from baseline was observed in 7 of 13 children, evolution of the initial lesion was seen in 6, and complete regression of the lesions was seen in 3. No cerebral white matter lesions were found in any of the 17 children. In concordance with the literature, we found that Leigh syndrome follows a similar pattern of bilateral, symmetrical basal ganglia or brainstem changes. Lesions in Leigh syndrome evolve over time and a lack of visible lesions does not exclude the diagnosis. Reversibility of lesions is seen in some patients, making the continued search for treatment and prevention a priority for clinicians and researchers.
We describe a patient who sustained a penetrating injury to the posterior right lower extremity just above the popliteal region with transection of the superficial femoral artery (SFA) despite minimal evidence of active bleeding. An on-table angiogram identified flow in the SFA followed by the popliteal artery and into the trifurcation of the right lower extremity. Eventually, a second operation revealed transection followed by end-to-end anastomosis of SFA and stabilization of the patient. The findings of this case highlight the need for a high index of suspicion and persistent clinical investigation to identify vascular injuries in the absence of hard signs of vascular trauma.
BackgroundIsolated right atrial rupture (IRAR) from blunt chest trauma is rare. There are no physical exam findings and non-invasive testing specific to the condition, which result in diagnostic delays and poor outcomes. We present a case of IRAR along with a systematic review of similar cases in the literature.Case reportA 23-year-old male presented following a motor vehicle accident (MVA). He was bradycardic and hypotensive during transportation; and required intubation. There were contusions along the right chest wall with clear breath sounds, and no jugular venous distension, muffled heart sounds. Hemodynamic status progressively worsened, ultimately leading to his death. However, no external sources of bleeding or evidence of cardiac tamponade was found.MethodsA search of PubMed, Ovid, and the Cochrane Library using: (Blunt OR Blunt trauma) AND (Laceration OR Rupture OR Tear) AND (Right Atrium OR Right Atrial). Articles were included if they were original articles describing cases of IRAR.ResultsForty-five reports comprising seventy-five (n = 75) cases of IRAR.ConclusionIRAR most commonly occurs following MVAs as the result of blunt chest trauma. Rupture occurs at four distinct sites and is most commonly at the right atrial appendage. IRAR is a diagnostic challenge and requires a high index of suspicion, as patients’ hemodynamics can rapidly deteriorate. The presentations vary depending on multiple factors including rupture size, pericardial integrity, and concomitant injuries. Cardiac tamponade may have a protective effect by prompting the search for a bleeding source. A pericardial window can be diagnostic and therapeutic in IRAR. Outcomes are favourable with timely recognition and prompt surgical intervention.
HighlightsSeroma is a common and challenging post-operative complication for both surgeons and patients.Doxycycline can be a simple, safe and effective method for resolution of chronic seroma.Negative Pressure Wound Therapy System can induce seroma cavity collapse and surface adherence.
HighlightsGastric volvulus may have a chronic component which can then progress to an acute surgical emergency.Acute on chronic gastric volvulus is extremely challenging to diagnose given the vague and atypical abdominal complaints.When gastric volvulus evolves to acute in nature, the appropriate workup for an acute abdomen should be performed.Prompt evaluation with surgical intervention is key in the management of acute gastric volvulus to avoid complications such as gastric necrosis.
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