Menkes disease – case report

Abstract

Background. Menkes disease is a severe genetically conditioned neurodegenerative disease. It is the result of an abnormal copper metabolism that is not absorbed from the gastrointestinal tract. The first symptoms and the characteristic appearance or structure of the hair are noticeable already in the newborn period. The main symptoms include the presence of seizures, hypotonia, bladder diverticulum and progressive changes in the central nervous system. Objectives. The purpose of the work is to present the main nursing and care problems for a child with Menkes disease. Material and methods. The research method used in the work is the analysis of an individual case using the nursing process. Results. The main nursing problems that were diagnosed in the boy were seizures, bouts of apnea, frequent urinary tract infections, pain of unknown cause, vomiting, constipation and fecal masses, chronic gum inflammation, risk of contracture or pneumonia, possible injury or falling as a consequence of uncontrolled muscle tone. Conclusions. Caring for a patient at home is difficult, absorbing and requires the ability to perform medical activities also by parents, who should be given the necessary support.