LEPRECHAUNIZM

From Big Medical Encyclopedia

LEPRECHAUNIZM (leprechaunismus; English leprechaun faun; synonym: Donohue's syndrome, disendokrinizm) — a hereditary disease — disturbance of development and dysfunction of endocrine system, and also multiple anomalies of development and change of a metabolism.

The disease is for the first time described in 1948 an amer. scientist Donohue (W. L. Donohue). L. it is inherited on autosomal recessively type linked to a floor (see. Inheritance ); family cases are possible. Girls are ill.

Morphologically cysts in ovaries, a nesidioblastosis, a hypertrophy and calcification of kidneys, accumulation of a glycogen and iron in a liver, a hyperplastic tissue of a mammary gland are found.

the Head of the child with a leprechaunizm: widely put eyes, a flat wide ridge of the nose, the bulged ears.

Wedge, picture it is characterized by a set of the symptoms which are shown since the birth: the small sizes of the person, a hypertelorism (see. Dysostosis ), widely put eyes of dark coloring, a flat wide ridge of the nose, the big, low located, bulged ears — ears of a bat (fig). The insufficient increase in weight is noted, exhaustion, skin sluggish with deep folds, brushes and feet can be the big sizes. It is observed hirsutism (see) in the form of gentle indumentum on a face and a body, gynecomastia (see), hypertrophy of a clitoris and small vulvar lips, delay of physical and mental development.

It is noted hypercalcemia (see), hypersensitivity to insulin, a little increased allocation 17 ketosteroids (see) with urine.

Diagnosis also the wedge, pictures of a disease is based on data of the anamnesis. Lab. researches have auxiliary value. The differential diagnosis is carried out with various embryopathies (see) and fetopathies (see), inborn hypotrophy (see), a sprue (see. Malabsorption syndrome ).

Effective treatment is absent. The forecast is adverse, most of children dies at early age.



Bibliography: Poradovsk V., Yavorsk M. and Gants I. Sindrom Donokhu (leprekonizm) at the girl, Acta chir, plast. (Praha), sv. 14, s. 4, 1972; Donohue W. L. Dysendocrinism, J. Pediat., v. 32, p. 739, 1948; Rogers D. R. Leprechaunism (Donohue’s svndrome), Amer. J. clin. Path., v. 45, p. 614, 1966; S u ulmi t t R. L. a. F a v a r a B. E. Leprechaunism (Donohue’s syndrome), J. Pediat., v. 74, p. 601, 1969.


M. Matveev.

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