TY - CHAP M1 - Book, Section TI - Menkes Syndrome A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - It is a genetic disorder of copper metabolism beginning before birth. The onset of Menkes disease typically begins during infancy. Copper accumulates in excessive amounts in the liver and is deficient in most other tissues of the body. Structural changes occur in the hair, brain, bones, liver, and arteries. Other clinical features include spontaneous hypothermia, severe developmental delay, loss of early development skills, and seizures. Spontaneous subdural hematoma and/or rupture or thrombosis of arteries in the brain may occur. Spastic dementia may eventually arise. Osteoporosis as a result of abnormal copper metabolism can result in pathologic fractures. The combination of subdural hematoma and bone fractures may lead to an incorrect diagnosis of child abuse. Emphysema, bladder abnormalities, degeneration of the retina, and cysts of the iris have been described. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164078371 ER -