Patterson Pseudoleprechaunism Syndrome

Clinical Features

Patterson and Watkins (1962) described a 10-month-old boy who they thought had leprechaunism (Donohue syndrome; 246200). Discordant features, however, were normal birth weight (rather than the usual severe intrauterine growth retardation) and marked cutis gyrata of hands and feet as well as a generalized skeletal disorder. Follow-up of this patient at age 7 years by Patterson (1969) made it clear that the disorder is distinct from leprechaunism. The boy had dwarfism, mental retardation, hyperadrenocorticism, and diabetes mellitus. He developed bladder diverticula and died at age 7.5 years from gram-negative sepsis. A main finding at autopsy was marked enlargement of the adrenals, especially of the zona fasciculata (McKusick, 1972). The distinctness of this disorder is further supported by discovery of an identical case in a female whose parents were young and unrelated (David et al., 1981). Findings at age 12 years were premature adrenarche with raised dehydroepiandrosterone and androstenedione levels. There was no clue to the genetics or other etiology of the disorder.