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MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features.
Incecik, F, Bisgin, A, Yılmaz, M
Metabolic brain disease. 2018;(6):2065-2068
Abstract
MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by intellectual disability, ichthyosis, hearing loss, peripheral neuropathy, enteropathy and keratodermia. Here in, we reported a case presented with ichthyosis and intellectual disability with MEDNIK syndrome that confirmed by mutation analysis in a Turkish child. She was finally diagnosed with MEDNIK syndrome by clinical findings, which were confirmed by molecular genetic testing. Sequencing of AP1S1 gene showed a homozygous insertion c.364dupG (NM_001283.4), which is predicted to cause a frameshift of the reading frame (p.D122Gfs*18). To our knowledge, this is the first case of MEDNIK syndrome from Turkey. Diagnosis of MEDNIK syndrome is still challenging and we hope that this case will contribute to further understanding.
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2.
Copper Deficiency Myelopathy After Upper Gastrointestinal Surgery.
King, D, Siau, K, Senthil, L, Kane, KF, Cooper, SC
Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition. 2018;(4):515-519
Abstract
A well-functioning alimentary canal is required for adequate nutrient absorption. Disruption to the upper gastrointestinal tract through surgery can lead to micronutrient malnourishment. Copper deficiency has been noted in up to 10% of those undergoing Roux-en-Y gastric bypass surgery, but sequalae are not frequently reported. The resultant deficiency states can have profound and long-term consequences if not realized early and managed appropriately. Here we present a case of copper deficiency myelopathy, a condition indistinguishable from subacute combined degeneration of the spinal cord, following upper gastrointestinal bypass surgery for gastric ulceration, further complicated by inadequate nutrition.
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3.
Brain iron accumulation in Wilson's disease: A longitudinal imaging case study during anticopper treatment using 7.0T MRI and transcranial sonography.
Dusek, P, Skoloudik, D, Maskova, J, Huelnhagen, T, Bruha, R, Zahorakova, D, Niendorf, T, Ruzicka, E, Schneider, SA, Wuerfel, J
Journal of magnetic resonance imaging : JMRI. 2018;(1):282-285
Abstract
5 Technical Efficacy: Stage 3 J. Magn. Reson. Imaging 2018;47:282-285.
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4.
[Wilson's disease - a case report].
Karwowska, K, Skrzypek, J, Chabik, G, Członkowska, A, Zaborowska, M, Wawrzyniak, S
Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego. 2016;(235):28-31
Abstract
Wilson's disease (WD) or hepatolenticular degeneration, is a rare autosomal recessive genetic disorder caused by mutations in the Wilson disease protein (ATP7B) gene. It is characterized by impaired copper metabolism leading to its accumulation in various tissues and organs, including the liver and central nervous system, this results in the development of characteristic liver disease and neuropsychiatric symptoms. Liver symptoms usually appear during first three decades of life, while psychiatric symptoms are observed in people who are in their twenties or older. WD is one of few genetic diseases that can be effectively treated with pharmacotherapy. However, some cases, especially diagnosed late in the course of the disease, may not respond well to treatment. Here we present a case of a 22-year-old male with neurological, psychiatric and liver disease symptoms as an example of diagnostic and therapeutic challenges in patients. Wilson's disease (WD) should be considered in all patients presenting with neurological, psychiatric and liver disease symptoms especially those of young age.
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5.
Symptomatic copper deficiency in three Wilson's disease patients treated with zinc sulphate.
Dzieżyc, K, Litwin, T, Sobańska, A, Członkowska, A
Neurologia i neurochirurgia polska. 2014;(3):214-8
Abstract
Wilson's disease (WD) is caused by excess of copper that leads to accumulation of copper mainly in the liver, brain and needs life-long decoppering therapy. However, overtreatment with anti-copper agents may lead to copper deficiency which may cause neurological and hematological symptoms. Copper is an important cofactor for many enzymes. This report describes three WD patients with diagnosed copper deficiency during zinc sulphate (ZS) treatment. After 5-16 years of therapy all patients developed leucopenia. Spinal cord injury was manifested in two of the patients. One of them also presented myopathy. In conclusion, copper deficiency may occur in different time after treatment onset, therefore regular copper metabolism and hematological monitoring is necessary.
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6.
Ocular manifestations of monoclonal copper-binding immunoglobulin.
Shah, S, Espana, EM, Margo, CE
Survey of ophthalmology. 2014;(1):115-23
Abstract
The dense accumulation of copper in Descemet membrane and lens capsule is the characteristic manifestation of a circulating monoclonal antibody with strong affinity for copper. The overproduction of this monoclonal immunoglobulin may be associated with either multiple myeloma or a benign monoclonal gammopathy. Despite prolonged exposure to elevated serum copper, no other tissues in the body are adversely affected by this redox metal. We describe the clinical and pathological findings in a 46-year-old woman with this disorder.