Light microscopy of the patient's hair revealed a high density of 180° twists. Many hairs were hypopigmented or had irregularly dispersed pigment. A magnetic resonance imaging scan and a magnetic resonance angiogram showed tortuous internal cerebral arteries and an infarct from a spontaneous cerebral bleed. These findings in the clinical setting of acute loss of developmental milestones were highly indicative of Menkes syndrome. This diagnosis was confirmed by the patient's low levels of ceruloplasmin (70 mg/L; reference range, 240-590 mg/L) and copper (<1.6 µmol/L [<10 µg/dL]; reference range, 4.7-24.4 µmol/L [30-155 µg/dL]). At 1 year of age, the patient's hair findings were unchanged, and he remained unable to support his head.
Fragile Hair and Seizures in a Child. Arch Dermatol. 2000;136(3):417-422. doi: