Leprechaunism (Donohue syndrome)

Name: Craig Elice Date: October 3, 2008


Leprechaunism (Donohue syndrome)

Donohue syndrome was first described by W.L. Donohue in 1948, It is caused by a mutation of the insulin receptor gene on chromosome 19 and is inherited as an autosomal recessive condition. The deficiency of the receptor causes insulin resistance with hypoglycemia and hyper insulinemia.

Features: Of the 31 patients reported with the diagnosis, the following features were described: severe intrauterine growth retardation, small elfin like face withprotuberant ears, flared nostrils, a distended abdomen, relatively large hands and feet and genitalia. The skin shows acanthosis nigricans, and decreased subcutaneous due to insulin resistance. On autopsy, patients showed hyperplasia of the pancreatic islet cells.

More recently a case was described in Angle Orthodontics , July 2008 describing facial charactistics of a patient with Donohue syndrome receiving long-term recombinant human insulin-like growth factor since 19 months of age. The patient had very large teeth and a large tongue which contributed to an anterior open bite. The article speculated on whether these features were related to the syndrome or to the growth factor

Unfortunately these patients die before 10 months of age but isolated patients have been known to live through the first decade of life. In these patients requiring dental care, similar precautions should be taken as if the patient had severe juvenile diabetes. A medical consultation is necessary prior to performing any invasive procedure.