Gunn T R, Macfarlane S, Phillips L I
Clin Pediatr (Phila). 1984 Sep;23(9):514-6. doi: 10.1177/000992288402300915.
The recognition of Menkes' kinky hair syndrome, trichopoliodystrophy, may present problems in the early neonatal period. The serum copper, and ceruloplasmin levels are within the range of normal infants in the first week of life; they are higher than normal in the cord blood of affected infants and fall gradually. Pili torti may only develop later, as the primary fetal hair is normal. The baby may appear bald, or both normal and abnormal hair may be found in different areas of the skull. The roentgenographic signs of wormian bones in the skull, metaphyseal spurring of the long bones, and diverticuli of the bladder develop progressively and may not be seen until after 6 weeks of age. However, diagnosis is possible in the neonatal period, if male infants with unexplained hypothermia, hypotonia, septicemia, or seizures are investigated by serum copper and ceruloplasmin levels after 1 month of age.
门克斯卷发综合征（毛发硫营养不良）在新生儿早期的识别可能存在问题。血清铜和铜蓝蛋白水平在出生后第一周内处于正常婴儿的范围内；在患病婴儿的脐带血中它们高于正常水平，并逐渐下降。扭发可能仅在后期出现，因为初生胎儿的毛发是正常的。婴儿可能看起来秃头，或者在颅骨的不同区域可能发现正常和异常毛发并存。颅骨缝间骨、长骨干骺端骨刺和膀胱憩室的X线征象会逐渐发展，可能直到6周龄后才会出现。然而，如果对1月龄后出现不明原因体温过低、肌张力减退、败血症或惊厥的男婴进行血清铜和铜蓝蛋白水平检测，新生儿期也有可能做出诊断。
