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Journal of Nursing Research and Practice

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A Case Study on Menkes Disease- Does it Really Exit?

Author(s): Jayavaruani Valayapathy

An 8 year old boy K/C/O Menke’s Disease with developmental delay, was now admitted with complaints of difficulty in micturition, dribbling of urine, abdominal pain. He was premature baby born by 7 months LSCS, and was normal, but with milestone delay up to 9 months of age, then after he developed limb dystrophy, hypotonia, dysphasia, failure to thrive, sagging facial features, kinky and brittle hair. [3,4] Blood, urine test were conducted to rule out the cause. X ray of the skull and skeleton were conducted to look for bone abnormalities. A Genetic test was performed and was confirmed to have ATP7A gene defect, and was diagnosed to have MENKE’S DISEASE. The child was treated conservatively with symptomatic management and very frequently develops the Urinary Tract infection, Blood pressure elevation, and poor oral intake. Now he was treated for UTI, catheterized, on IV fluids and with antibiotics