Syndrome of Lorensa-Muna-Bidl

Description:

Laurence — Muna — Bidlya a syndrome (J. Z. Laurence, the English ophthalmologist, 1830 — 1874; R. Ch. Moon, American ophthalmologist, 1844 — 1914; A. Biedl, the Czech therapist, 1869 — 1933) — the neuroendocrinal disease which is shown a pigmental retinitis, obesity, a polydactylia, a hypogenitalism and mental retardation. The syndrome is described in 1866 by Laurence and Mun as a combination of a pigmental retinitis to a hypogenitalism, a growth inhibition and an oligophrenia. In 1920 G. Bardet paid attention to a polydactylia at this syndrome, and in 1922 Bidl described other malformations at this syndrome. A little more than 400 patients are described. The disease often has family character, meets at males more often.

Reason of a syndrome of Lorensa-Muna-Bidl:

The etiology and pathogeny are studied insufficiently. The greatest significance is attached to genetic factors, however the mode of inheritance is not specified. It is assumed that the syndrome is a consequence of pre-natal damage of a fruit, for example, at a toxoplasmosis, a rubella at pregnant women. Along with inborn malformations of a skeleton, an eye, a brain, internals, the progressing dystrophic changes (for example, retinas of eyes, kidneys) attach significance to the secondary frustration connected with dysfunction of the hypothalamic centers.

Pathological anatomy. Morphologically changes in a brain are not specific to Laurence — Muna — Bidlya a syndrome and at many patients in general are absent. Dystrophic changes of kernels of a hypothalamus with reduction of number of ganglionic cells and substitution by their gliozny elements are described, and also the atrophy of gyruses, inborn lack of a corpus collosum and others are Often observed defects of development of kidneys — fetalis lobation, a hypoplasia, a dysplasia; microscopically in kidneys the wide range of changes — from small growth of mesenchymal elements before the expressed mezangialny proliferation, cystous expansion of tubules with formation of cortical and medullary cysts, periglomerulyarny and intersticial fibrosis, chronic inflammatory cellular infiltration is found. Inborn heart diseases and vessels are revealed at autopsy at 2/5 dead. Generative organs are, as a rule, underdeveloped.

Symptoms of a syndrome of Lorensa-Muna-Bidl:

Obesity occurs at 81 — 95% of patients, begins on the first year of life more often and increases with age. Pigmental dystrophy of a retina, or a pigmental retinitis, though belongs to cardinal symptoms of a disease, is described only at 15% of patients; vision disorders are observed at 92 — 93% of patients (more than 70% of patients grow blind). The atrophy of an optic nerve, glaucoma, a cataract, short-sightedness are the reason of the progressing loss of sight along with a pigmental retinitis; malformations of eyes are described: microphthalmia, anophthalmia, aniridiya, coloboma of an iris of the eye.

The polydactylia, usually shestipalost, occurs at 70 — 80% of patients; some patients have a syndactylia, sometimes in combination with a polydactylia, a brachydactyly, flat-footedness. Skull malformations are described: nanocephalia, hydrocephaly, brachycephaly, frontal hyperostosis, deformation of the Turkish saddle, asymmetry of the person, and also defects of vertebrae and edges. Patients of usually small growth, maturing of a skeleton is slowed down.

The hypogonadism is observed at 74 — 85% of sick men and at 45 — 53% of women; it can be connected both with primary insufficiency of gonads, and with decrease in products of gonadotrophins. At men the characteristic eunuchoid look, sharp obesity, quite often a gynecomastia, the small sizes of testicles and external genitals, growth of hair on a pubis on female type is noted. Women can have completely no secondary sexual characteristics, be observed an amenorrhea and a hypoplasia of generative organs, at the same time in some cases perhaps normal sexual development with ability to a child-bearing.
Some patients had disturbances of tolerance to glucose up to development of a diabetes mellitus; sometimes not diabetes mellitus develops, arterial hypertension is noted.

Frustration of mentality take place at 70 — 85% of patients; at some mental retardation since the early childhood, but sudden disturbance of intelligence is described (with 7 — 8-year age). Extent of change of mentality is various. Frustration are noted neurologic, on EEG disturbance of a regularity of the main rhythms, a diffusion dizritmiya is often observed; occasionally — extrapyramidal disturbances: spastic paralyzes of extremities, hypo and hyperreflexia.
Inborn heart diseases, defects of development of an aorta and coronary vessels are diagnosed seldom during lifetime.

Against the background of inborn defects of kidneys (a polycystosis, a hypoplasia, a glomerular dysplasia) there are inflammatory processes (a chronic glomerulonephritis, pyelonephritis, abscesses of kidneys) which are found at urological inspection with use radio radiological methods and a biopsy of kidneys.

Scientists Klein and Ammann suggested to allocate a full form of a syndrome (all five cardinal symptoms), incomplete (one or two symptoms are absent), abortal (one-two symptoms or indistinct manifestations of all), atypical (there is no pigmental retinitis, but other damages of eyes are noted) and an extensive form (along with five main symptoms there are other malformations). The full form meets rather seldom: from 132 cases collected on literature by Telen (Е. Thelen, 1958), it is revealed only in 26.

The diagnosis at a full form of a syndrome does not represent difficulties. The polydactylia comes to light already at the birth. Quite often on the first year of life obesity develops. Further other symptoms come to light. The differential diagnosis is carried out with adiposogenital dystrophy to which damages of eyes, a polydactylia and other malformations, an oligophrenia, and also with Alstrem's syndrome — Hallgrena, the characterized combination of a pigmental retinitis to obesity, deafness, a diabetes mellitus (sometimes mental disorders) in the absence of a polydactylia and a hypogonadism are not inherent.

Treatment of a syndrome of Lorensa-Muna-Bidl:

Symptomatic treatment.
The forecast is adverse. Usually patients grow blind, obesity and a renal failure amplify. Patients die at young age more often; of the dead 50 years were senior. At a third of the dead uraemia was a cause of death.