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1.
[Valproic acid-induced hyperammonemic encephalopathy in a patient receiving valproic acid monotherapy].
Yamada, H, Shishido, T, Mukai, T, Araki, M, Naka, H, Tokinobu, H
Rinsho shinkeigaku = Clinical neurology. 2019;(5):258-263
Abstract
A 79-year-old female was diagnosed with epilepsy because she experienced loss of consciousness twice in January and February and then had a seizure in June 2016. She was treated with 800 mg sodium valproate (sustained release). After 3 days, she experienced loss of appetite, and more than 3 days later, disturbance of consciousness. Serum valproic acid (VPA) concentration was 128.3 μg/ml and serum ammonia was 404 μmol/l. Cerebral edema and status epilepticus occurred. Severe neurological dysfunction remained, even after treatment with continuous hemodiafiltration and levocarnitine. VPA is widely used for the treatment of generalized epilepsy. VPA-induced hyperammonemic encephalopathy is a rare but serious adverse event of VPA. Thus, we must pay attention to serum ammonia levels when using VPA, even VPA monotherapy.
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2.
DDX58 and Classic Singleton-Merten Syndrome.
Ferreira, CR, Crow, YJ, Gahl, WA, Gardner, PJ, Goldbach-Mansky, R, Hur, S, de Jesús, AA, Nehrebecky, M, Park, JW, Briggs, TA
Journal of clinical immunology. 2019;(1):75-80
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Abstract
PURPOSE Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skeletal abnormalities including tendon rupture and arthropathy. Pathogenic variants in IFIH1 have previously been associated with the classic Singleton-Merten syndrome, while variants in DDX58 has been described in association with a milder phenotype, which is suggested to have a better prognosis. We studied a family with severe, "classic" Singleton-Merten syndrome. METHODS We undertook clinical phenotyping, next-generation sequencing, and functional studies of type I interferon production in patient whole blood and assessed the type I interferon promoter activity in HEK293 cells transfected with wild-type or mutant DDX58 stimulated with Poly I:C. RESULTS We demonstrate a DDX58 autosomal dominant gain-of-function mutation, with constitutive upregulation of type I interferon. CONCLUSIONS DDX58 mutations may be associated with the classic features of Singleton-Merten syndrome including dental dysplasia, tendon rupture, and severe cardiac sequela.
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Hemorrhagic Events in Adult Celiac Disease Patients. Case Report and Review of the Literature.
Dima, A, Jurcut, C, Manolache, A, Balaban, DV, Popp, A, Jinga, M
Journal of gastrointestinal and liver diseases : JGLD. 2018;(1):93-99
Abstract
BACKGROUND AND AIMS Celiac disease (CD) presents with a wide spectrum of extra-digestive symptoms, including hemorrhagic manifestations. The aim of this review was to conduct an extensive analysis of the hemorrhagic events reported in adult CD patients. METHODS Case report and review of the literature. Pubmed (MEDLINE) database search from January 1970 onwards was performed using the medical subject headings [MeSH] terms "celiac disease" AND "blood coagulation disorders", "hemorrhage", "hematoma", "hematuria", "hemoptysis", "epistaxis", "hemosiderosis". Only case reports were identified on the search theme. Information on patients' characteristics, diagnostic features, coagulation parameters, symptomatology duration, and evolution under treatment were systematically collected and summarized. RESULTS We present the case of a 40-year-old man hospitalized for spontaneous muscular hematomas, in whom CD was diagnosed. We performed a review of the literature and summarized the published case reports of 46 CD patients, aged between 19 and 74 years, 64% of male gender. In 25% of cases, the symptomatology was present for more than 5 years prior to CD diagnosis. The clinical hemorrhagic events were as follows: 15 patients had gastrointestinal bleeding, 9 hemoptysis, 4 epistaxis, 6 hematuria, 8 cutaneous hematoma, petechia or ecchymoses, and only in 1 case hemarthrosis, hemorrhagic vesicular dermatitis, subcortical hemorrhage, or adrenal hemorrhage. Sixty percent of the patients had digestive symptoms, while the rest had only extra-digestive CD involvement. The Lane Hamilton syndrome was defined in 15 patients. The evolution under a gluten-free diet was favorable in most cases. CONCLUSION This review of case reports aims to increase awareness to hemorrhagic events, rare but possible life-threatening conditions, as part of the CD clinical spectrum. To the best of our knowledge, this is the first review of all types of hemorrhagic events in adult CD patients.
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Colchicine-Induced Myopathy in a Tacrolimus-Treated Renal Transplant Recipient: Case Report and Literature Review.
Yousuf Bhat, Z, Reddy, S, Pillai, U, Doshi, M, Wilpula, E
American journal of therapeutics. 2016;(2):e614-6
Abstract
Renal transplant recipients are prone to develop drug toxicities because of polypharmacy and drug-drug interactions. Colchicine is often used for the treatment of gout in these patients as nonsteroidal medications are contraindicated. In addition, patients are often on corticosteroids and frequent, periodic, dose escalation for gouty flare may lead to side effects. Colchicine-induced myopathy has been very well described in the literature. Several cases of colchicine toxicity have been reported in cyclosporine-treated patients due to a drug-drug interaction. We report a 62-year-old African American renal transplant recipient who had been doing well on tacrolimus-based immunosuppression and was started on colchicine (0.6 mg twice daily) for gouty flare. A few days later, he was found to have a 4-fold increase in aspartate aminotransferase and an elevated creatine phosphokinase. Although this interaction is very well known with cyclosporine, it has not yet been reported in patients on tacrolimus.
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Overcoming Challenges With Statin Therapy.
Spence, JD, Dresser, GK
Journal of the American Heart Association. 2016;(1)
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Myalgias and Myopathies: Drug-Induced Myalgias and Myopathies.
Holder, K
FP essentials. 2016;:23-7
Abstract
Drugs can cause myalgias and myopathies through a variety of mechanisms. Most drug-induced myopathies are potentially reversible if recognized early. Prescribers should be familiar with common drug-induced myopathies and drug-drug interactions. Clinical presentations can be subacute or acute, ranging from benign muscle pain with mild elevations of serum creatine kinase to fulminant rhabdomyolysis with high creatine kinase levels and potentially life-threatening acute kidney injury. Myalgias and proximal muscle weakness are typical symptoms; onset can be weeks to months after drug exposure. Endocrine disorders and inflammatory etiologies should be excluded because their management may differ from that of drug-induced myopathies. Statin drugs are prescribed widely, and statin-induced myopathy is one of the most commonly recognized and studied myopathies. Risk factors include dose and type of statin prescribed, older age, female sex, genetic predisposition, and concomitant use of other drugs metabolized by the cytochrome P450 system. Glucocorticoids, immunologic drugs, and antimicrobials, as well as other drugs and alcohol, can cause myopathies. Management typically involves discontinuing the drug and switching to an alternative drug or considering an alternative dosing schedule. Referral to a neuromuscular subspecialist is warranted if symptoms persist.
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Chanarin-Dorfman syndrome: A case report and review of the literature.
Mogahed, EA, El-Hennawy, A, El-Sayed, R, El-Karaksy, H
Arab journal of gastroenterology : the official publication of the Pan-Arab Association of Gastroenterology. 2015;(3-4):142-4
Abstract
UNLABELLED Chanarin-Dorfman syndrome, a "neutral lipid storage disease with ichthyosis," is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in various types of cells. CASE REPORT A 3-year-old male presented to the Pediatric Hepatology Unit, Cairo University Children's Hospital, Cairo, Egypt, with accidentally discovered hepatomegaly. He had generalised ichthyosis with dark skin pigmentation and bilateral ectropion. Abdominal examination revealed generalised abdominal distention with firm nontender hepatomegaly. His liver functions were deranged. Blood film showed many vacuolated neutrophils. Serum triglyceride and creatine kinase levels were elevated. Abdominal ultrasound showed a moderately enlarged liver with a bright echo pattern. Liver biopsy revealed marked diffuse macrovesicular fatty changes. The diagnosis of Chanarin-Dorfman Syndrome was made based on the dermatological, haematological, and liver biopsy findings.
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8.
Childhood hypophosphatasia with myopathy: clinical report with recent update.
Silva, I, Castelão, W, Mateus, M, Branco, JC
Acta reumatologica portuguesa. 2012;(1):92-6
Abstract
Hypophosphatasia is a rare genetic disease with low tissue nonspeficic alkaline phosphatase activity (TNSALP), due to ALPL gene mutation. There are 6 clinical forms. Childhood form is caractherized by short stature, premature loss of decidous teeth and diffuse bone pain associated with a pathological bone fracture in the past. Laboratory findings present low serum level of alkaline phosphatase and high levels of serum and urinary extracelular metabolytes. It is described a case report of a 34 years old woman with previous diagnosis of childhood hypophosphatasia, caryotype 46,XX, and molecular screening for the gene ALPL with a c.1426>A p.E476K mutation, who complained of proximal muscular weakness intensified with the cold weather, exercise, and a waddling gait. The electromyography was compatible with myopathy but the muscle biopsy was normal. The serum creatine kinase levels were normal, as well as the others muscle enzymes. Clinical and laboratory/ /imaging dissociation is frequent in other metabolic bone diseases as osteomalacia. The rarity of this case of childhood hypophosphatasia with "de novo" non-progressive myopathy of the lower limbs, justified a case report with literature revision.
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Hypoparathyroidism in a patient presenting with severe myopathy and skin rash. Case report and review of the literature.
Syriou, V, Kolitsa, A, Pantazi, L, Pikazis, D
Hormones (Athens, Greece). 2005;(3):161-4
Abstract
A 47-year old man with idiopathic hypoparathyroidism (IHP), presented as severe myopathy and skin rash is described. The serum muscle enzymes were increased. After treatment with calcium and vitamin D, the clinical condition improved, the skin rash gradually disappeared, and the muscle enzymes decreased and remained within the normal range thereafter.
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10.
Calcinosis universalis: a rare diagnosis.
Santili, C, Akkari, M, Waisberg, G, Kessler, C, Alcantara, Td, Delai, PL
Journal of pediatric orthopedics. Part B. 2005;(4):294-8
Abstract
Calcinosis universalis is characterized by the deposit of calcium salts in skin, subcutaneous tissue, tendons and muscles. Most cases become apparent during the first decade of life. Clinical aspects may vary from arthralgia to movement limitation, with calcification of soft tissues. Differential diagnosis should exclude fibrodysplasia ossificans progressive, progressive osseous heterodysplasia, myositis ossificans and dermatopolymyositis. There is no specific treatment, but the use of calcium chelates (EDTA), biphosphonates (disodium etidronate) and steroids are mentioned. This paper presents a review of the literature and adds a new case of calcinosis universalis and its evolution in 28 months, describing laboratory and radiograph findings and suggesting the differential diagnosis among processes of soft tissue calcification.