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

Role of optic microscopy for early diagnosis of Menkes disease.

We report the case of a male patient with a normal development in the first three months of life, presenting for global regression, central axial hypotonic syndrome, pyramidal syndrome, focal epileptic seizures, and a particular aspect of the hair - almost absent, short, sparse, lightly colored, at age of five months, becoming coarse, twisted (kinky hair) by the age of 21 months. Different dise...

MENKES\' SYNDROME: REPORT OF A CASE

An 8 month old boy is presented with clinical and laboratory features of Menkes' kinky hair syndrome. A brief discussion ensues.

Is kinky-hair disease a misnomer for Menkes syndrome?

Menkes kinky hair disease: A case report

An eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. He had also mental ...

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.