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Early screening of treatable metabolic diseases: case report of menkes syndrome


International Journal of Pregnancy & Child Birth
Marcio Nehab, Maria Elizabeth Machado, Bruna Fonseca, Barbara Mesquita, Jonathan Panoeiro

Abstract

Introduction: Congenital anomalies, among these metabolic disorders, are largely asymptomatic at birth. The diagnostic suspicion ends up being delayed and defined in a moment of irreversibility of the disease. Menkes Syndrome (MS) is an example of these asymptomatic changes, which makes the suspicion and diagnostic investigation difficult, through the serum dosage of copper and ceruloplasmin, delaying the therapy. This is based on early parenteral copper supplementation to ensure prognostic implementation.

Objective: Report the case of a patient diagnosed with Menkes Syndrome, review the subject literature and discuss the impacts of the implementation of new diagnostic methods through neonatal screening.

Case report: Ten-month-old white male patient with a history of neuropsychomotor developmental delay and difficult-to-control seizures, beginning at 6 months. Given the possibility of inborn error of metabolism, Neonatal Molecular Screening (TNM) was requested via oral swab. The result evidenced Homozygous n the ATP7A gene with low dosages of copper and ceruloplasmin confirming the diagnosis of Menkes Syndrome.

Conclusion: Scientific advances pressure the expansion of neonatal screening in order to improve rare disease screening. The emergence of new generation sequencing contributes to the identification of gene alterations that lead to complex and challenging management diseases. Neonatal screening directly impacts infant morbidity and mortality by early detection and treatment. Genetic diagnosis of congenital anomalies allows optimizing the search for resources and specific therapy for each case. Despite these benefits, the NGS exam has a considerably high cost, both economically and psychosocially, that must be taken into account before the universalization of these technologies.

Keywords

menkes syndrome, genetic screening, newborn screening

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