A Rare Case of Menkes Kinky Hair Syndrome With Osseous Involvement

Abstract

We present a rare case of Menkes kinky hair syndrome with osseous involvement incidentally identified by a technetium Tc 99m dimercaptosuccinic acid (DMSA) scan and confirmed later by a technetium Tc 99m methylene diphosphonate bone scan. The patient had global developmental delay, myoclonic seizures from 3.5 months of age, as well as recurrent urinary tract infections. Bone involvement was unknown at the time of presentation. A technetium Tc 99m DMSA (+3 valency) scan was performed, which was not suggestive of any cortical scars. Incidentally, multiple sites of abnormal DMSA uptake were observed in the adjoining ribs. A subsequent technetium Tc 99m methylene diphosphonate whole body bone scan showed multiple hot spots in the ribs, bilateral humerus and femurs, suggesting flaring of the ribs, metaphyseal spurring, periosteal new bone formation and osteochondrodysplasia.