Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
December 2024
in “
Pediatrics in Review
”
Studysummary This case report concluded that undiagnosed Menkes disease, an X-linked disorder causing copper deficiency, contributed to a 7-month-old's illness and death, complicating his presentation with viral septic shock and methamphetamine exposure.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
A 7-month-old boy with developmental delay and poor growth was diagnosed with Menkes disease, an X-linked recessive disorder characterized by copper deficiency, leading to neurodegeneration and distinctive hair changes. His condition was complicated by methamphetamine exposure and a viral infection, resulting in multiorgan dysfunction. Due to late diagnosis and rapid disease progression, he was ineligible for copper-histidine treatment, which could have improved outcomes. Despite supportive care, his prognosis remained poor, and he died 30 days after admission. This case underscores the importance of early detection and treatment with copper injections, as Menkes disease can mimic signs of nonaccidental trauma. Molecular genetic testing is recommended for diagnosis, particularly in cases with developmental delay, poor growth, and a family history of early deaths.
