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At a glance

This is a genetic disorder characterized by retinitis pigmentosa (pigmentary degeneration of retina and rod cone dystrophy), ophthalmoplegia, spastic paraplegia, mental retardation, and cardiomyopathy. Other features include obesity, deafness, cataract, polydactyly, and renal insufficiency.

Synonyms

Adipogenital-Retinitis Pigmentosa Syndrome; Laurence Syndrome.

N.B.: Although Laurence-Moon-Bardet-Biedl Syndrome has been split into two syndromes—LMS and Bardet-Biedl Syndrome (rod cone dystrophy obesity, postaxial polydactyly, learning disabilities, and hypogenitalism)—many cases overlap.

History

First reported in 1866 by ophthalmologist John Zacharian Laurence and Robert Charles Moon, an American who was at the time Dr Laurance’s house surgeon in London. Their report described four out of eight siblings with retinitis pigmentosa, lack of intelligence, short stature, and hypogenitalism in males. A few years later the same family was reexamined and some noted to have spastic paraparesis. Often confused with the Bardet-Biedl Syndrome that is called LMBB (Laurence-Moon-Bardet-Biedl Syndrome).

Incidence

Rare; more frequent in some places (Arabic population of Kuwait, among the Bedouins, often as Bardet-Biedl Syndrome).

Genetic inheritance

Autosomal recessive.

Pathophysiology

Not known. Pituitary gland is morphologically and immunohistologically normal.

Diagnosis

Based on the clinical features: mental retardation pigmentary retinopathy, hypogonadism, hypogenitalism, and spastic paraplegia. No obesity or polydactyly observed (as observed in Bardet-Biedl Syndrome, with which the syndrome should not be confused even though it has strong similarities and overlap).

Clinical aspects

Symptoms usually occur in early or late childhood. Strabismus is often present and the cause of visual difficulties. Other clinical manifestations include night blindness, cataracts, and retinitis pigmentosa occurring during childhood. There is a decreased level of gonadotrophic hormone production because of hypogonadism, which contributes to delay of onset of puberty and development of secondary sex characteristics. Males usually are infertile and may develop pseudogynecomastia. Females have amenorrhea and fail to develop breasts. Other signs include mental retardation ataxia, muscle rigidity, and spastic paraplegia. Renal disease is common because of abnormalities in the structure or function of the kidneys. In some rare cases, diabetes, congenital heart defects, and breathing problems may occur.

Precautions before anesthesia

It is recommended to obtain a consultation in anesthesiology before elective surgery. Patients affected with morbid obesity will require complete evaluation of cardiovascular and respiratory functions prior to anesthesia and surgery. Pulmonary function tests (when possible) will be needed to determine the presence of obstructive respiratory function and to evaluate the possible need for postoperative mechanical ventilation. The investigation should include a complete cell blood count, glucose level, coagulation profile, and renal functions. The fasting period might require a longer time to allow complete gastric transit because these patients are more susceptible to maintain higher gastric volumes than others.

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