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Gitelman syndrome is one of the few inherited causes of metabolic alkalosis due to salt losing tubulopathy. It is caused by tubular defects at the level of distal convoluted tubules, mimicking a thiazide-like tumor. It usually presents in late childhood or in teenage as nonspecific weakness, fatigability, polyuria, and polydipsia but very rarely with seizures. It is classically associated with hypokalemia, hypomagnesemia, hypocalciuria, hyperreninemia, and hyperaldosteronism. However, less frequently, it can present with normal magnesium levels. It is even rarer to find normomagnesemic patients of GS who develop seizures as the main complication since hypomagnesemia is considered the principal etiology of abnormal foci of seizure-related brain activity in GS cases. Interestingly, patients with GS are oftentimes diagnosed during pregnancy when the classic electrolyte pattern consistent with GS is noticed. Our case presents GS with normal serum magnesium in a patient, with seizures being the main clinical presentation. We also did a comprehensive literature review of 122 reported cases to show the prevalence of normal magnesium in GS cases and an overview of clinical and biochemical variability in GS. We suggest that further studies and in-depth analysis are required to understand the pathophysiology of seizures in GS patients with both normal and low magnesium levels.
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We report two cases of aphakia in whom an intraocular lens (IOL) was intrasclerally fixated through the pars plana to minimize further corneal endothelial damage. A modified lock-and-lead technique was used. A sclerotomy and scleral incision were made 2.5 mm from the limbus. A 24-G catheter needle was used for penetration of the leading haptic, and two ultrathin 30-G needles were used to bury the ends of the haptics. The scleral incision was sutured with 8-0 nylon. Corneal endothelial cells were preserved after surgery. Neither intra- nor postoperative complications were observed. Intrascleral fixation of an IOL through the pars plana effectively minimizes further damage to corneal endothelial cells in select cases.
Case Rep Ophthalmol 2019;10:53–60
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Vitamin D nutrition research requires accurate measures of circulating 25-hydroxyvitamin D. Our objectives were to test whether a diurnal fluctuation in blood-spot concentrations of 25-hydroxyvitamin D can be ...
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Phytobezoars are a rare cause of small bowel obstruction (SBO), which consists of vegetable matter such as seeds, skins, fibres of fruit and vegetables that have solidified. We present the case of a 61-year-old man with no previous surgery who presented with central abdominal pain, nausea and vomiting. An abdominal CT scan demonstrated SBO with a transition point in the left anterior abdomen. He proceeded to a laparoscopy, which revealed multiple perforations throughout the small bowel, from the proximal jejunum to the terminal ileum. Laparotomy was performed, and undigested chestnuts were milked out through the largest perforation and the perforations were oversewn. While obstruction due to phytobezoars is rare, this case demonstrates the importance of considering small bowel trauma and perforation due to phytobezoars and highlights the need for close inspection of the entire gastrointestinal tract for complications in the setting of phytobezoar-related bowel obstruction.
Welding light can cause photic retinal injury. We report binocular maculopathy induced by a brief exposure to electric arc welding light in a patient who could not equipped with protective device because of narrow space. A 47-year-old man performed electric arc welding for approximately 10–15 min without wearing protective device because of narrow space and subsequently experienced eye discomfort and decreased visual acuity. At the initial visit, his best corrected visual acuity was 0.5. Fundus examination, optical coherence tomography (OCT) and multifocal electroretinogram (mfERG) were performed. OCT showed disruption in the ellipsoid zone, and mfERG amplitudes in the central 10° were markedly reduced in both eyes. The decrease in visual acuity had been noted for at least 18 months. Using the proper protective device is essential in welding, despite short time periods of work. For patients with welding-induced photokeratitis, doctors should also consider the possibility of photic retinal injury.
We present a patient with Crohn's disease under treatment with adalimumab who developed acute myeloid leukaemia (AML) with core-binding factor beta gene rearrangement. This case report emphasises the importance of long-term close follow-up of patients receiving adalimumab because of the increased risk of developing AML and other malignancies.