Rabson-Mendenhall syndrome

Synonyms

Mendenhall's syndrome, insulin resistance-pineal hyperplasia syndrome.

Related people

A rare insulin receptor disorder characterized by severe insulin resistance, developmental abnormalities, and acanthosis nigricans.

Description

Rabson-Mendenhall syndrome
Insilin-resistant diabetes mellitus, with a decrease in the number of insulin receptors, associated with multiple abnormalities and hypertrophy of the pineal body and adrenal cortex. The symptoms include enlarged genitalia, dental abnormalities /dysplastic teeth, premature totth eruption), protruding abdomen, peculiar facies (bulging forehead, hypertrichosis, skin disorders (dry skin, acanthosis nigricans), thin limbs, narrow or thickened nails, draining absecesses, recurrent infections, and ketoacidosis. The syndrome is familial and is transmitted as an eutosomal recessive trait, often affecting children of consanguineous parents.

Clinical presentation
Rabson and Mendenhall described 3 sibling (2 girls, 1 boy) who initially presented with dental and skin abnormalities, abdominal distention, and phallic enlargement. The children demonstrated early dentition, a coarse, senile-appearing facies, and striking hirsutism. An "adult growth of hair of head" at 5 years of age was pictured in the case of one of the girls. In the older girl the genitalia were large enough at the age of 6 months to permit vaginal examination for diagnosis of a left ovarian tumor which was removed soon afterward. The children were mentally precocious. Prognathism and very thick fingernails as well as acanthosis nigricans were also described. Insulin-resistant diabetes developed, and the patients died during childhood of ketoacidosis and intercurrent infections. At autopsy pineal hyperplasia was found in all three. [Wikipedia].

Bibliography


S. M. Rabson, E. N. Mendenhall:
•   Familial hypertrophy of the pineal body, hyperplasia of adrenal cortex, and
    diabetes mellitus.
 
    American Journal of Clinical Pathology, Baltimore, 1956, 26 (3): 283-290.

E. N. Mendenhall:
•   Tumor of the pineal body with high insulin resistance.
    The Journal of the Indiana State Medical Association, Indianapolis,
    1950, 43: 32-36.

Stanley Jablonski:
•   Jablonski’s Dictionary of Syndromes & Eponymic diseases.
     Krieger Publishing Company, Malabar, Florida, 1991.

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