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1.
Penile and digital calciphylaxis: A case report and literature review.
Ávila, G, Matias, P, Laranjinha, I, Ferreira, AC, Gil, C, Ferreira, A
Clinical nephrology. 2023;(2):82-87
Abstract
Calcific uremic arteriolopathy (CUA) represents a rare but severe disease with high morbimortality. The authors present the case of a 58-year-old male patient with chronic kidney disease due to obstructive uropathy, on hemodialysis (HD). He started HD due to uremic syndrome with a severe renal dysfunction, dysregulation of calcium and phosphate metabolism, and he presented with distal penile ischemia, which was treated with surgical debridement and hyperbaric oxygen therapy. Four months later, painful distal digital necrosis of both hands was observed. Extensive arterial calcification was observed on X-ray. A skin biopsy confirmed the presence of CUA. Sodium thiosulfate was administered for 3 months, HD was intensified, and hyperphosphatemia control was achieved, with progressive improvement of the lesions. This case illustrates an uncommon presentation of CUA in a patient on HD for a few months, non-diabetic and not anticoagulated, but with a severe dysregulation of calcium and phosphate metabolism.
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2.
Wernicke's Encephalopathy in Type 2 Achalasia: Case Report and Literature Review.
Rodriguez, DN, Gera, K, Paudel, B, Pham, A
Journal of investigative medicine high impact case reports. 2023;:23247096231190628
Abstract
Achalasia is primarily a smooth muscle motility disorder of the esophagus driven by aberrant peristalsis and failure of sphincter relaxation. Notably, achalasia is a heterogeneous disease with primarily 3 possible pattern subtypes. According to the review of current cases and literature regarding achalasia, patients primarily present with dysphagia, usually to solids and, if progressed, to solids and liquids. Rarely, untreated achalasia may result in thiamine deficiency and present as Wernicke-Korsakoff syndrome (WKS). This acute neurologic condition primarily affects the central and peripheral nervous system and is known by the triad of ataxia, ophthalmoplegia, and confusion. Individuals who present with WKS typically have a notable history of chronic alcohol abuse with decreased thiamine intake and metabolism. Although less common, individuals with WKS may have a pertinent history of starvation, anorexia nervosa, and malnutrition. This case highlights a unique presentation of Wernicke's encephalopathy (WE) in a 30-year-old woman with severe type II achalasia complicated by a 60-pound weight loss in a span of 2 months. According to our literature review, there have only been 2 previously reported cases of severe achalasia leading to the development of WE. Considering the limited number of case reports available, WE must be in the differentials in patients with underlying achalasia, and our case report highlights this unusual presentation with corresponding brain imaging and manometry testing.
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3.
Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature.
Navasardyan, LV, Furlan, I, Brandt, S, Schulz, A, Wabitsch, M, Denzer, C
Italian journal of pediatrics. 2023;(1):98
Abstract
BACKGROUND Shwachman-Diamond syndrome (SDS) is a rare congenital disorder caused by mutations in the SBDS gene and characterized by exocrine pancreatic deficiency, hematologic dysfunction, and skeletal growth failure. Although the hematologic features and characteristics of the somatic disorders commonly associated with SDS are well known, emerging data from case reports and patient registries suggest that SDS may also be associated with an increased risk of diabetes mellitus. However, currently available data on SDS-associated diabetes are limited and do not allow conclusions regarding prevalence and incidence rates, clinical course, and outcomes. CASE PRESENTATION Here we report the case of a 5-year-old girl with SDS who underwent bone marrow transplantation at the age of 3 months and developed autoantibody-positive type 1 diabetes mellitus at the age of 1.8 years. The manifestation and course of diabetes development were mild, complicated by concurrent spontaneous episodes of hypoglycemia even before the onset of antidiabetic treatment. Currently, adequate metabolic control can be achieved by dietary intervention. CONCLUSIONS Considering that the SBDS protein regulates mitosis and ribosomal biosynthesis and that its suppression may cause immunologic instability and chronic inflammation, this case provides insight into the phenotype of rare Shwachman-Diamond syndrome-associated diabetes mellitus, which may be characterized by significant age-dependent differences in clinical course.
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4.
"A ghost doesn't need insulin," Cotard's delusion leading to diabetic ketoacidosis and a body-mass index of 15: a case presentation.
Robertson, C, Dunn, T
BMC psychiatry. 2023;(1):551
Abstract
BACKGROUND Cotard's Syndrome (CS) is a rare clinical entity where patients can report nihilistic, delusional beliefs that they are already dead. Curiously, while weight loss, dehydration, and metabolic derangements have been described as discussed above, a review of the literature revealed neither a single case of a severely underweight patient nor a serious metabolic complication such as Diabetic Ketoacidosis. Further, a search on PubMed revealed no articles discussing the co-occurrence of Cotard's Delusion and eating disorders or comorbid metabolic illnesses such as diabetes mellitus. In order to better examine the association between Cotard's Delusion and comorbid eating disorders and metabolic illness, we will present and discuss a case where Cotard's delusion led to a severe metabolic outcome of DKA and a BMI of 15. CASE PRESENTATION Mr. B is a 19 year old transgender man admitted to the hospital due to diabetic ketoacidosis secondary to Type 1 Diabetes Mellitus. Mr. B had a history of Obsessive-Compulsive Disorder, Major Depressive Disorder, and Post-Traumatic Stress Disorder. The primary pediatric team discovered that Mr. B had not been using his insulin appropriately and was severely underweight, and they believed this could be due to his underlying mental illness. The psychiatric consultation/liaison service found that Mr. B was suffering from Cotard's delusion leading him to be noncompliant with his insulin due to a belief that he was already dead. Cotard's delusion had in this case led to a severe metabolic outcome of DKA and a BMI of 15. CONCLUSIONS This case provides clinical insight into the interactions of eating disorders and Cotard's delusion as well as the potential medical complications when Cotard's delusion is co-morbid with medical conditions such as Diabetes Mellitus. We recommend that clinicians routinely screen patients for Cotard's delusion and assess whether the presence of which could exacerbate any underlying medical illness. This includes clinicians taking special care in assessing patient's caloric and fluid intake as well as their adherence to medications both psychiatric and medical. Further research could be conducted to explore the potential overlap of Cotard's delusion and eating disorder phenomenology.
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5.
Tophaceous gout in a young man with Gitelman syndrome: a case report with an overview.
Rouached, L, Hannech, E, Jeribi, R, Saidane, O, Ben Tekaya, A, Bouden, S, Tekaya, R, Belhaj Kacem, L, Mahmoud, I, Rammeh, S, et al
Clinical rheumatology. 2023;(1):285-291
Abstract
Gitelman syndrome represents the clinical manifestations of inactivation of the Slc12a3 genes encoding the thiazide-sensitive sodium chloride cotransporter and the Trpm6-Mg genes encoding the magnesium transporters in the distal convoluted tubule. In fact, the biochemical findings resemble those with thiazide diuretics such as hypokalemia, hypomagnesaemia, hypocalciuria, metabolic alkalosis, and low normal blood pressure. He is usually associated with calcium pyrophosphate deposition. Serum uricemia level is rarely affected in Gitelman syndrome. We aimed to report a rare association of chronic gout with Gitelman syndrome, hence the interest of our case. We describe a 29-year-old male patient with a history of Gitelman syndrome associated with articular gout including pelvic localization. We provided pictorial evidence of extensive and diffuse monosodium urate deposition in articular and periarticular structures to confirm the gout origin. A literature review illustrates 4 reported cases of Gitelman syndrome associated with gout. The gender distribution was equal with a mean age of 40 years.
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6.
A rare occurrence of non-classic congenital adrenal hyperplasia and type 1 diabetes mellitus in a girl with Prader-Willi Syndrome: Case report and review of the literature.
Aureli, A, Bocchini, S, Mariani, M, Crinò, A, Cappa, M, Fintini, D
Frontiers in endocrinology. 2023;:1148318
Abstract
Prader-Willi syndrome (PWS) is a rare genetic disorder resulting from lack of expression of the paternally derived chromosome 15q11-13, associated with several complications, including pubertal disorders, short stature, hyperphagia, obesity, glucose metabolism abnormalities, scoliosis, obstructive sleep apnea syndrome (OSAS) and behavioral problems. We report the case of a girl affected by PWS who presented at the age of 5.9 with premature pubarche, accelerated linear growth and advanced bone age (BA). She was subsequently diagnosed with non-classic congenital adrenal hyperplasia (CAH) confirmed by genetic analysis. Considering the clinical, biochemical, and genetic findings, hydrocortisone therapy was started to prevent rapid BA acceleration and severe compromission of final height. During infancy, short stature and low levels of insulin-like growth factor-1 (IGF-1) for age and gender led to suspicion of growth hormone deficiency (GHD), confirmed by stimulation testing (arginine and clonidine). rhGH therapy was administered and continued until final height was reached. During endocrinological follow up she developed impaired glucose tolerance with positive markers of β-cell autoimmunity (anti-glutamic acid decarboxylase antibodies, GAD Ab), which evolved over time into type 1 diabetes mellitus and insulin therapy with a basal-bolus scheme and an appropriate diet were needed.
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7.
Syndrome of Inappropriate Antidiuresis and Diabetes Insipidus as Two Sides of the Same Coin in Hypothalamic Lymphoma: A Case Report.
Marilda, M, Rosa, L, Stefano, T, Marta, B, Alfonsina, C, Fiammetta, N, Giulia, P, Marialuisa, A
Endocrine, metabolic & immune disorders drug targets. 2023;(5):732-737
Abstract
BACKGROUND Hypothalamic-pituitary region lymphoma is rare and diabetes insipidus (DI) represents one of the most common endocrine manifestations. We report the first case of hypothalamic lymphoma associated with both the syndrome of inappropriate antidiuresis (SIAD) and DI. CASE PRESENTATION A 64-year-old woman with a history of stage IV large B-cell non-Hodgkin lymphoma, underwent atypical right lung resection for pulmonary nodules. A few days after surgery, the patient presented severe normovolemic hyponatremia and serum hypo-osmolarity, therefore, we suspected a paraneoplastic syndrome (SIAD) related to the lung neoplasm, histologically diagnosed as typical carcinoid. The brain magnetic resonance imaging (MRI) showed a 9 mm lesion in the hypothalamic region that significantly increased one month later with the onset of neurological symptoms. A trans-sphenoidal biopsy showed localization of the large B-cell lymphoma. After surgery, the patient presented with polyuria and polydipsia, so desmopressin therapy was started. In the following days, serum osmolarity and sodium fluctuated between normal and low values, then DI was excluded, and SIAD became more likely. Desmopressin therapy was discontinued and hyponatremia was treated with sodium infusion. Hypothalamic lymphoma was treated with chemotherapy and radiotherapy with substantial shrinkage. The hyponatremia persisted during anticancer treatments and improved only after radiotherapy, confirming paraneoplastic SIAD. CONCLUSION Lymphomas of the hypothalamic region can cause electrolyte imbalance for various causes. The differential diagnosis between SIAD, DI and impaired thirst centers may not be straightforward and the electrolyte disorders must be evaluated step by step in all different stages of the disease.
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8.
Pseudohyperkalemia due to cryohydrocytosis in GLUT1 deficiency syndrome. A case report and literature review.
Furia, A, Muccioli, L, Santucci, M, Licchetta, L, Bisulli, F
Epileptic disorders : international epilepsy journal with videotape. 2023;(3):410-415
Abstract
Cryohydrocytosis is a form of stomatocytosis characterized by the leakage of sodium and potassium from red blood cells at low temperatures, characterized by pseudohyperkalemia. Stomatin-deficient cryohydrocytosis is an extremely rare variant that only recently has been related to pathogenic variants in the SLC2A1 gene, encoding the main glucose transporter of the blood-brain barrier and red blood cells, GLUT1. It follows that GLUT1 deficiency syndrome, a rare but significant cause of metabolic epilepsy, may present with stomatin-deficient cryohydrocytosis, although this correlation has only been reported in a few instances. We present the case of a patient carrying a novel de novo SLC2A1 pathogenic variant presenting with GLUT1 deficiency syndrome, pseudohyperkalemia, and splenomegaly consistent with cryohydrocytosis. We also review the previously reported cases of stomatin-deficient cryohydrocytosis in the literature. As highlighted by our case, elevated potassium levels are a cause of concern, and GLUT1 deficiency syndrome patients are thus at risk of being subjected to unnecessary examinations; pseudohyperkalemia may be underrecognized in clinical practice.
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9.
Osmotic demyelination syndrome in patients with non-Hodgkin lymphoma: a case report and literature review.
García-Grimshaw, M, Jiménez-Ruiz, A, Ruiz-Sandoval, JL, Cantú-Brito, C, Chiquete, E
The International journal of neuroscience. 2023;(3):233-237
Abstract
INTRODUCTION Osmotic demyelination syndrome (ODS) is a non-inflammatory process of the central nervous system caused by extracellular osmotic changes, which leads to oligodendrocyte apoptosis and disruption of myelin sheaths, usually affecting patients with underlying systemic conditions that impose susceptibility to osmotic stress. Description of ODS in patients with non-Hodgkin lymphoma (NHL) is limited to a few case reports. METHODS Here, we report a 44-year-old man with NHL that had an incidental diagnosis of ODS. We conducted a literature review of the published cases of ODS in NHL patients from 1959 to 2020, aiming to describe the characteristics of these patients. RESULTS A total of seven patients were summarized (four men and three women), including our case and six patients from published reports. Risk factors such as weight loss and alcoholism were reported in five (71.4%) patients. Hyponatremia was found in six (85.7%) of the cases, and none of them had overly rapid sodium correction. Four cases were asymptomatic, and diffuse large B-cell lymphoma was the most common subtype of NHL (85.7%). The outcome was favorable in most cases; only two deaths not directly related to ODS were reported. CONCLUSION We wish to suggest that systemic and metabolic stress induced by NHL may be associated with the development of central osmotic demyelination, and therefore, NHL may be a novel risk factor for ODS. Clinicians should be aware of ODS in patients with hematological malignancies, even in the absence of traditional risk factors.
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10.
Acquired autoimmune Bartter syndrome in a patient with primary hypothyroidism.
Nasir, N, Mohanty, D, Pande, AK, Khanna, D, Vishvakarma, K, Gupta, L
Rheumatology international. 2023;(3):567-574
Abstract
We describe an unusual clinical presentation of autoimmune Bartter syndrome in a patient with primary hypothyroidism. A 65-year-old female patient was admitted with neuromuscular weakness associated with hypokalemia and metabolic alkalosis. She had a suboptimal response to potassium supplementation and potassium-sparing diuretic resulting in re-hospitalization with the same symptoms. A detailed serum and urinary biochemistry analysis in the absence of other causes of potassium wasting helped diagnose Bartter syndrome, a rare entity in adults. An autoimmune profile showed anti-Scl-70 antibody to be positive, although she did not develop other systemic features of the disease. Our patient responded to a steroid-based regimen potassium supplement, Indomethacin, and aldosterone antagonist with remarkable resolution of symptoms and correction of electrolyte derangement. We reviewed the literature to search for similar cases and included twenty-seven full-length publications on acquired and autoimmune causes of Bartter syndrome. Our case highlights the fact that hypokalemia with metabolic alkalosis in an adult patient should prompt clinicians to evaluate for common and uncommon conditions. While assessing for abnormal conditions, acquired Bartter syndrome should be considered if a patient has an underlying autoimmune, endocrine, or connective tissue disease.