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At a glance

It is a very rare metabolic disorder characterized by early onset of diabetes mellitus in the infancy period, cushingoid features (moon face-like appearance), multiple epiphyseal dysplasia, multiple fractures, microcephaly, short stature, hypertonia, barrel-shaped chest, hepatomegaly, tooth discoloration, gray-blue sclerae, high-arched palate, and skin abnormalities. Epiphyseal dysplasia and growth retardation have onset within the first 2 years of life.

Synonyms

MED-IDDM Syndrome; IDDM-MED Syndrome; Wolcott-Rallison Syndrome.

History

This medical condition was first described by Pierre Mauriac (1882-1963) in 1930. He described three children with severe growth failure, maturational delay, hepatomegaly, abdominal distention, and Type 1 diabetes. It affects males and females in equal numbers. The onset of symptoms occurs during adolescence.

Classification

There are two different forms of Mauriac Syndrome that have been described. There are based on the presence or absence of obesity with the other features.

Incidence

The exact incidence remains unknown. Only few cases have been reported in the literature.

Genetic inheritance

Acquired condition only in diabetics.

Pathophysiology

Mauriac Syndrome is primarily of historic interest. The hepatomegaly is thought to be due to the deposition of glycogen in the liver, and similar subcutaneous deposition gives rise to the round, moon-like facies. It occurred in poorly controlled diabetics when only short-acting insulin was used. Insufficient tissue glucose results in gluconeogenesis and fat metabolism and therefore a catabolic state. In addition, somatomedin production is reduced, resulting in relatively short stature. Although the pituitary-adrenal axis remains intact, high cortisol levels are typical.

Diagnosis

This syndrome should be suspected in poorly controlled diabetics with cushingoid appearance. The growth retardation and delayed puberty are possibly due to an inadequate glucose delivery to tissues, decreased insulin-like growth factor-1 (IGF-1) and growth hormone levels, hypercortisolism, and the presence of resistant or defective hormone receptor action.

Clinical aspects

Mauriac Syndrome occurs only in children and adolescents with poorly controlled insulin-dependent diabetes mellitus. They present with dwarfism, hepatomegaly, and a cushingoid appearance, including truncal obesity and “buffalo hump.” Hepatomegaly is caused by fatty deposition in the liver. Hepatic function is usually normal. These findings are almost completely reversed by improved diabetic control. However, diabetic end-organ damage, including retinopathy and nephropathy, may be present.

Precautions before anesthesia

Preoperative evaluation of diabetic control is essential. A careful evaluation of end-organ damage is essential. Kidney function must be assessed because these patients are susceptible to renal failure.

Anesthetic considerations

Perioperative control of blood sugar must be accomplished in cooperation with an endocrinologist. Affected patients respond well to short acting insulin. Postoperative glucose monitoring is essential. The association of pain and ...

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