Keywords
Clinical manifestations
Rare diseases
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Abstract
Objective: To elucidate the clinical picture, diagnosis and late use of Copper Sulfate Pentahydrate in controlling the progression of DM in an 8-year-old child. Case report: Male patient with MSS. At two months of age, the patient was hospitalized due to sialorrhea, epileptic seizures and muscle spasms. After molecular testing and karyotype, he was diagnosed with Menkes disease with the presence of a variant of uncertain significance in the ATP7A gene. He started taking oral copper, phenobarbital and oxcarbazepine to control epileptic seizures. It is common for patients to present with nonspecific clinical symptoms in the first months of life. Suspicion of the disease arises with delayed neuropsychomotor development, neurodegenerative symptoms, connective tissue changes and changes in capillary structure. Final considerations: DM is a disease that still has no cure, and accurate diagnosis and early treatment are essential for the clinical course of the disease and for the prognosis of patients. The life expectancy of most individuals is extremely low and, normally, patients die within the first ten years of life.
References
ALTARELLI M, et al. Copper Deficiency: causes, manifestations, and treatment. Nutrition In Clinical Practice, 2019; 34 (4): 504-513.
BAIERLE M, et al. Possíveis Efeitos do Cobre s Sanguíneo Sobre Parâmetros Hematológicos em Idosas. J Bras Patol e Med Lab. Dezembro de 2010;46(6):463–70.
CHRISTODOULOU JD, et al. Tratamento precoce da doença de Menkes com Cooper-Histidina parenteral: Acompanhamento a longo prazo de quatro pacientes tratados. J Med Genetc, 1999; 76 (2): 154-164.
COSTA LSA, et al. Menkes disease: importance of diagnosis with molecular analysis in the neonatal period. Revista da Associação Médica Brasileira, 2015; 61 (50): 407-410.
HORN N, et al. Chelating principles in Menkes and Wilson diseases: Choosing the right compounds in the right combinations at the right time. Journal of Inorganic Biochemistry, 2019; 2019: 98-112.
KALER SG, et al. Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD). Mol Genet Metab Reports, 2020; 24: 1-4.
KALER SG, et al. Neonatal Diagnosis and Treatment of Menkes Disease. N Engl J Med, Massachusetts, 2008; 6 (358): 605-614.
KALER SG, et al. Diagnóstico e tratamento neonatal da doença de Menkes. N Engl J Med. 2008; 358:605-14.
KALLER SG. Inborn errors of copper metabolism. In: Dulac O, Lassonde M, Sarnat HB (eds.). Handbook of clinical neurology. Elsevier, 2013; 113: 1745-54.
KODAMA H, Fujisawa C, Bhadhprasit W. Hereditary disorders of copper transport: biochemical mechanisms, diagnosis and treatment. Current Drug Metabolism. 2012; 13:237-50.
KODAMA H, et al. Pathology, clinical features and treatments of congenital copper metabolic disorders - Focus on neurological aspects.Brain Dev. 2011; 33:243-51.
MENKES JH, et al. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics, Evanston, 1962; 29: 764-779.
MOLLER LB, et al. Molecular diagnosis of Menkes disease: genotype-phenotype correlation. Biochimie. 2009; 91:1273-7.
PRASAD AN, et al. Menkes disease and infantile epilepsy. Brain Dev. 2011; 33:866-76.
RAMANI PK, et al. Early clinical signs and treatment of Menkes disease. Molecular Genetics And Metabolism Reports, 2022; 31: 100849.
SANTOS BK, et al. Intervenção da fisioterapia na síndrome de Menkes: relato de caso. Acta Fisiotr, 2020; 27 (1): 58-63.
SARKAR B, et al. Treatment of Wilson and Menkes Diseases. Chemical Reviews. 8 de Setembro de 1999;99(9):2535–44.
TÜMER Z, et al. Menkes disease. European Journal Of Human Genetics, 2009; 18 (5): 511-518.
TUSSOLINI, IGA et al. Doença de Menkes: relato de um caso raro na Amazônia: BJHR, 2023; 6 (1): 4016-4026.
VAIRO FP, et al. A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease. Molecular Genetics And Metabolism, 2019; 126 (1): 6-13.