We report two cases of Menkes kinky hair disease in which MR and MR angiography were performed. The clinical and imaging features are reviewed. MR demonstrated characteristic cerebrovascular tortuousity and thus may be a valuable aid in diagnosis and follow-up.

In 1962, Menkes et al1 first described a pediatric disorder characterized by hypopigmented brittle hair, doughy skin, connective tissue fragility, failure to thrive, progressive neurological damage, and various defects of the arterial wall. This was termed “kinky hair syndrome” and later was found to be associated with a disturbance in copper metabolism due to mutations in the ATP7A gene. The A...

Kinky hair disease (KHD) was first described by Menkes et al.(1). Ten years later Danks et al. suggested that the primary defect is in copper transport leading to copper deficiency(2). It is a Xlinked recessive disorder. The gene for KHD is about 200 kb in size and is located on the long arm of X chromosome (Xql3.3). The cDNA has been recently sequenced and is known to code for a protein of 150...

Supersymmetric U(NC) gauge theory with NF massive hypermultiplets in the fundamental representation admits various BPS solitons like domain walls and their webs. In the first part we show as a review of the previous paper [1] that domain walls are realized as kinky fractional D3-branes interpolating between separated D7-branes. In the second part we discuss brane configurations for domain wall ...

HODGKIN AND HUXLEY’S WORK (5) revealing the origins of cellular excitability is one of the great triumphs of physiology. In an extraordinarily deft series of papers, they were able to measure the essential electrical characteristics of neurons and synthesize them into a quantitative model that accounts for the excitability of neurons and other cells. The Hodgkin-Huxley equations, a set of four ...