J Korean Radiol Soc.  1986 Dec;22(6):1077-1082. 10.3348/jkrs.1986.22.6.1077.

Kinky hair syndrome: a case report

• Yeon KM
• Kim IO
• Chi JG
• Moon HR

• KMID: 2462262
• DOI: http://doi.org/10.3348/jkrs.1986.22.6.1077

Abstract

Kinky hair syndrome is a sex-linked recessively inherited copper metabolic disorder with severeneurodegenerative change and infant death. In 1962, Menkes and associates described five boys of a relatedpedigree with severe psychomotor retadation, seizures and widespread cerebral and cerebellar degeneration. In1969, Wesenberg and associated specified the radiological characterization of the syndrom. Symmetrical metaphsealspurring and diaphyseal periosteal reaction fo the long bones, anterior rib flaring, a malformed cerebral arterialsystem and subdural effusion. In 1972, Danks and associates found the disease to be associated with a defect ofcopper metabolism, confirmed by studies with labelled Cu. Authors experienced a case with characteristic clinicalpicture, and report cebral and abdominal arteriographic changes and plain radiographic findings with brain CT, DSAand post-mortem angiography.

MeSH Terms

Angiography
Brain
Copper
Infant Death
Menkes Kinky Hair Syndrome*
Metabolism
Ribs
Seizures
Subdural Effusion
Copper