Subsarcolemmal aggregates of mitochondria (‘ragged red’ fibers) in skeletal muscle were found at autopsy in a 30-month-old male infant with Menkes kinky-hair disease reported from the New York Hospital-Cornell University Medical Center, New York. At birth, the infant had multiple depressed skull fractures and a cephalhematoma. At 5 days, he developed vertical nystagmus and staring episodes; at 2 months, generalized seizures; at 4 months, multifocal myoclonic twitches; and by 6 months, he had hypotonia, poor head control, and visual inattention. His height, weight, and head circumference were at the 3rd percentile. His hair was sparse, poorly pigmented, and showed pili torti (twisted), monilethrix (beadlike) and trichorrhexic nodosa (fractured nodes) on microscopic examination. The plasma copper was 16mcg/100ml (normal: approx 100mcg/100ml), and ceruloplasmin 12mg/dl (normal: 15-50mg/dl). He was treated with sodium valproate for seizures, and he had multiple episodes of vomiting, weight loss and dehydration, and respiratory infections. The immediate cause of death was bronchopneumonia. The brain weighed 500g (normal: 1100g) and showed diffuse cerebral and cerebellar atrophy, with focal polymicrogyria. Electronmicroscopy demonstrated numerous mitochondria within Purkinje cell cytoplasm. This report, “the first to describe ‘ragged red’ fibers in Menkes disease,” supports the concept that Menkes disease may be due in part to a mitochondrial enzyme deficiency. [1]

COMMENT. Menkes kinky hair disease is an X-chromosome linked disorder of copper malabsorption characterized by low serum ceruloplasmin and copper levels, seizures, CNS degeneration, and pili torti [2] [3]. Parenterally administered copper corrects the hepatic copper deficiency and restores serum copper and ceruloplasmin levels to normal but may not arrest the progressive cerebral degeneration. Nonetheless, Menkes advises initiation of copper therapy early since the clinical course of the disease is variable.