Menkes' Kinky Hair disease: new considerations.

Is kinky-hair disease a misnomer for Menkes syndrome?

Menkes kinky hair disease: characteristic MR angiographic findings.

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.

Correction of cerebrospinal fluid copper in Menkes kinky hair disease.

A patient with Menkes Kinky Hair disease was treated with infusions of copper-histidine which resulted in normal copper values in the cerebrospinal fluid. This tends to confirm the in vitro data that copper is transported into the central nervous system complexed with histidine or other similar ligands.

Menkes' kinky hair disease: a light and electron microscopic study of the eye.

Light and electron microscopic studies of the ocular tissue of a case of Menkes' kinky hair disease are described. The copper deficiency responsible for this systemic and neurologic disease appears to cause a progressive degeneration of retinal ganglion cells, loss of nerve fibers, and optic atrophy. The pigment epithelium is also abnormal with only small and irregular melanin granules present ...

Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease

Menkes kinky hair disease is a rare X-linked recessive disease nearly exclusively affecting males who present at 2-3 months of age due to abnormal functioning of copper-dependent enzymes due to deficiency of copper. Here, we describe a completely worked-up case of a 4-month-old male infant with very typical history and radiological features confirmed by biochemical and trichoanalysis. The initi...