Objective: Maternally inherited diabetes and deafness (MIDD) is a rare form of diabetes caused by a mutation in mitochondrial DNA, usually a point mutation at position 3243 in the leucine tRNA gene. This same mutation can cause a rare but severe syndrome called mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS).Methods: We describe a case of MIDD with acute mitochondrial decompensation that progressed to MELAS.Results: A 63-year-old male with MIDD and a history of hypoglycemic seizures presented for evaluation of altered mental status with fever, tachycardia, hypotension, and somnolence. His history was also significant for deafness and cochlear implants. The physical exam results were consistent with mild, proximal muscle wasting. The initial workup was concerning for sepsis and a urinary tract infection. Laboratory evaluation revealed lactic acidosis with normal white cell count, liver enzymes, and ammonia level. After fluid resuscitation and 4 days of broad-spectrum antibiotics, his mental status improved. Then he became obtunded again, and a stroke alert was called. Stroke workup results, including imaging studies, were negative, ammonia level was high, and he developed transaminitis. There was a concern for carnitine deficiency given the underlying mitochondrial disease, valproic acid use, and sepsis. He stabilized for a few days but then developed focal left-arm paresis. Stroke workup again was negative and diagnosis of MELAS was considered. Arginine supplementation was initiated with improvement of the focal weakness. He was discharged to rehabilitation.Conclusion: This case highlights that MIDD and MELAS are a spectrum of the same disease process, and emphasizes the importance of recognizing MELAS as a rare presentation in MIDD patients irrespective of age. (AACE Clinical Case Rep. 2018;4:e228-e231) Abbreviations: MELAS = mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; MIDD = maternally inherited diabetes and deafness

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Introduction: Patients with active celiac disease are more likely to have osteoporosis and increased risk of fractures. Studies show that gluten-free diet may help improve bone mass to some extent. Here, we report a premenopausal woman with celiac disease with progressively declining bone mineral density (BMD) into severe osteoporosis range, who demonstrated a remarkable improvement in BMD after one year of gluten-free diet and oral bisphosphonates. Clinical case: A 44-year old premenopausal female had a low screening bone density at the ankle at 39 years of age, and was confirmed to have low BMD by central DXA, with osteoporosis at the spine and osteopenia at the hips. Celiac antibodies were positive and she was recommended gluten free diet (GFD), which she stopped after a year. Her primary care also started her on supplemental calcium and vitamin D with stabilization of BMD over the next three years. Subsequent BMD 2 years later showed 7.6% decrease in bone density at the lumbar spine (T-score -3) and 5.8% decline at the total hip (T-score -2.7) and she was referred for osteoporosis evaluation. Workup revealed high bone turnover with an elevated PTH of 162pg/mL, low normal serum calcium of 8.8mg/dL, normal vitamin D levels and low urine calcium levels, suggestive of secondary hyperparathyroidism. At this time, review of systems revealed a questionable history of gluten sensitivity, but she denied any diarrhea or bloating. A duodenal biopsy revealed villous atrophy and positive antibodies against tissue transglutaminase, compatible with active celiac disease. She was started on a gluten-free diet and alendronate was also added in view of low bone density and high bone resorption. Bone density performed one year later revealed a remarkable 14.1% increase at the level of the lumbar spine and 8.9% increase at the level of total hip compared to prior BMD. Conclusion: This is the first case of such a remarkable increase in BMD on gluten-free diet and concomitant bisphosphonate use, suggesting a cumulative benefit of this strategy that is greater than using either of these interventions alone.