A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance.

Three siblings with retinitis pigmentosa, deafness and mental retardation were studied. Physical abnormalities included nystagmus, acanthosis nigricans and multiple keloids. The two male siblings had gynecomastia, small testes and mild subvirilization whereas the only indication of hypogonadism in the female sibling was oligomenorrhea. Testosterone levels in the males, which were in the low to low normal range, were increased by the administration of large doses of chorionic gonadotropin. The two affected males had elevated plasma luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels which were decreased by the administration of testosterone and increased by the administration of clomiphene. One sibling had mild obesity and diabetes mellitus, one had moderate obesity, normal glucose tolerance and hyperinsulinism and the third had abnormal glucose tolerance and hyperinsulinism. This familial syndrome is distinct from either the Laurence-Moon, Bardet-Biedl or Alström disorders and provides further evidence of genetic heterogeneity in this group of autosomal recessive traits.

Bardet-Biedl syndrome and related disorders.

The Bardet-Beidl and Laurence-Moon syndromes are distinct entities. The nosology of five syndromes combining ocular and/or auditory defects, mental retardation, genital hypoplasia, obesity, and digital anomalies is reviewed. A 32-month-old boy had an unusual condition that may represent a sixth entity.

A family with the Bardet-Biedl syndrome and diabetes mellitus.

We studied a family with the Bardet-Biedl syndrome and diabetes mellitus. Two affected brothers and one affected sister were examined. Two older sisters with stigmata of the syndrome had died of unclear causes. The 18-year-old brother was obese, was mentally retarded, and had pigmentary retinopathy and insulin-dependent diabetes mellitus. The 16-year-old sister, who died in a diabetic coma during the course of the investigation, had polydactyly, hypogenitalism, obesity, mental retardation, and pigmentary retinopathy. The 8-year-old brother had all the features of the syndrome, but no overt diabetes mellitus. Electroretinography showed severe cone and rod dysfunction. Patients with the Bardet-Biedl syndrome should be screened for the presence of abnormalities in glucose metabolism.

Renal disease-a sixth cardinal feature of the Laurence-Moon-Biedl syndrome.

A 39 year old man with 4 of the 5 cardinal features of the Laurence-Moon-Biedl syndrome (LMBS) had proteinuria and moderate renal failure. Excretory urography showed small cysts communicating with the dilated calyceal system. Renal biopsy showed diffuse mesangial sclerosis and cellular proliferation. Excretory urograms in 22 of 24 reported patients demonstrated similar findings. Review of renal pathology reports on 16 patients revealed either chronic glomerulonephritis or severe tubulo-interstitial disease with cysts or both in 8 of 9 who died from uremia and 2 of 7 who died from other causes. The abnormalities seen on excretory urography occur more frequently than 2 of the cardinal features, and as uremia is often the cause of death for these patients, renal disease should be considered a cardinal feature of LMBS.

Bardet-Biedl syndrome and retinitis punctata albescens in an isolated northern Canadian community.

Autosomal recessive inheritance of various conditions is well documented among inbreeding groups. In northern Canada inbreeding occurs in communities as a result of language and cultural uniqueness as well as geographic isolation. In one such community--Rae, in the Northwest Territories--two autosomal recessive disorders, the Bardet-Biedl syndrome and retinitis punctata albescens, are segregating. This report outlines the major clinical features of the disorders, establishes for both conditions the high frequency of the heterozygous carrier genotype in the community and suggests a possible way to reduce the likelihood of increased numbers of affected individuals in forthcoming generations.

Laurence-Moon-Biedl syndrome: report of two cases.

The Laurence-Moon-Biedl syndrome is characterized by features of familial occurrence, retinitis pigmentosa, obesity, polydactyly, hypogenitalism and mental retardation. Recently, several reports have suggested renal abnormalities as an additional cardinal feature of the syndrome. We present two cases of this syndrome from two different families. The first case was an obese eight-year-old girl with poor vision and signs of mental retardation beginning at four months of age. An intravenous urogram showed dilatation of the minor calyces of both kidneys. Genital agenesis and typical retinitis pigmentosa on fundal examination all supported the diagnosis of Laurence-Moon-Biedl syndrome. The patient's father and grandmother also had symptoms of poor vision, mental retardation and obesity. The second case was an obese 14-year-old girl with blurred vision and severe mental retardation noticed at two to three months of age. Fundi showed typical retinitis pigmentosa. She also had genital agenesis but no significant family history.

[Laurence-Moon-Bardet-Biedl syndrome. Physiopathological aspects and description of a clinical case]. / La sindrome di Laurence-Moon-Bardet-Biedl. Aspetti fisiopatologici e descrizione di un caso clinico.

After some general introductory remarks, a case of Laurence-Moon-Bardet-Biedl syndrome is reported. The main physiopathological aspects of the syndrome and some elements of differential diagnosis are discussed.

'Epiphyseal dysgenesis' in Laurence-Moon-Biedl-Bardet syndrome.

Ten patients with Laurence-Moon-Biedl-Bardet syndrome were investigated. They all belonged to one large family within which several intermarriages had taken place. We found that, apart from the already described abnormalities, these patients suffered from dysgenesis of the following epiphyses: vertebrae, proximal femur, proximal tibia, capitellum, tarsal navicular, and the distal epiphysis of the first metatarsal. The degree of polydactyly, a prominent feature of this syndrome, varied from patient to patient, ranging from a wide fifth metatarsal or metacarpal to a complete sixth digit. As in other epiphyseal dysgenesis, a pseudoepiphysis of the distal first metacarpal was present. One patient (the eldest) was tetraparetic due to severe spinal stenosis.

Pituitary hormone reserve in the Laurence-Moon-Bardet-Biedl syndrome.

A patient who presented with hypgonadism was found to have classical features of the Laurence-Moon-Bardet-Syndrome. He had oligospermia and low serum testosterone. Basal serum thyroid stimulating hormone (TSH), prolactin (PRL), growth hormone (GH), cortisol, luteinising hormone (LH) and follicle stimulating hormone (FSH) were normal. Stimulation with thyrotropin releasing hormone. (TRH) showed normal pituitary reserve for TSH and PRL. Adequate insulin hypoglycaemia caused a normal rise of GH and cortisol. LH and FSH showed normal peaks after luteinishing hormone releasing hormone (LHRH). These results indicate normal pituitary hormone reserve and hypogonadotrophic hypgonadism secondary to hypothalamic dysfunction.

Bardet-Biedl syndrome in a Zimbabwean child.

An isolated case of Bardet-Biedl syndrome in a 12 year-old Zimbabwean boy is described. The patient presented with retinitis pigmentosa, polydactyly, mental retardation, obesity and hypogenitalism. To the best of the author's knowledge, it is the first paediatric case described in the African literature.

A further case of Bardet-Biedl syndrome.

Bardet-Biedl syndrome in a 10 year old boy from Botswana is described. The patient presented with retinitis pigmentosa, polydactyly, mental retardation, obesity and hypogenitalism. The patient has a twin brother who has the same clinical signs. This is the second time this condition has been described in the African literature and the first time reported in Black twins.

Clinical aspects of renal involvement in Bardet-Biedl syndrome.

The Bardet-Biedl syndrome (BBS), which consists of polydactyly, obesity, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature. An attempt is made at clarifying the problem. Four children from two families have been observed. There were inter- and intrafamilial variabilities of the expression and severity of the particular features, but retinopathy and structural and/or functional abnormalities were found in 100%. The combination of the two can serve as an easy clinical screening for diagnosis of the disease. Renal involvement is considered to be a cardinal feature of the syndrome. The most common and earliest symptoms are polydypso-polyuria and reduced concentrating ability, which may lead to some diagnostic difficulties, especially in infancy. Three children have end-stage renal disease and two of them are on maintenance haemodialysis, which they tolerate well.

Lawrence-Moon-Bardet-Biedl syndrome: a case report.

A case report of the rare Lawrence-Moon-Bardet-Biedl Syndrome in a 10-year old Nigerian boy is presented. The findings were obesity, mental retardation, polydactyly hypogonadism, macula degeneration and retinities pigmentosa.

[The value of echography in the early diagnosis of renal lesions in the Laurence-Moon-Bardet-Biedl syndrome. Apropos of a case]. / Intérêt de l'échographie dans le diagnostic précoce des lésions rénales au cours du syndrome de Laurence-Moon-Bardet-Biedl. A propos d'un cas.

The Laurence-Moon-Bardet-Biedl syndrome (LMBB) is characterized by the association of obesity, hypogonadism, polydactyly, mental retardation and pigmentary retinitis. Symptomatic or asymptomatic renal dysplasia (calyceal diverticula, precalyceal tubular ectasia, cysts) is frequently associated with LMBB. The authors consider renal sonography as the convenient investigation for an early detection of such dysplasia as in the case they reported here.

Laurence-Moon-Bardet-Biedl syndrome in combination with Cotard's syndrome. Case report.

Laurence-Moon-Bardet-Biedl (LMBB) syndrome is a symptom complex that usually presents with retinitis pigmentosa, poly- or syndactyly, mental retardation, obesity and hypogenitalism. Cotard's syndrome is a state in which the central symptom is a delusion of negation. The case reported here is a combination of these two rare conditions.

[Incomplete Bardet-Biedl syndrome associated with cerebellar ataxia]. / Niepelny zespól Bardet-Biedla ze wspólistniejacym zanikiem mózdzku.

A case of incomplete Bardet-Biedl syndrome was observed in a woman aged 33 years. The syndrome was associated with cerebellar atrophy. The authors suggest that the pathogenetic cause of the syndrome was a teratogenic effect of quinine during organogenesis while cerebellar atrophy was due probably to metabolic disturbances.

[Lawrence Moon Biedl Bardet, a polymorphic syndrome]. / Laurence Moon Biedl Bardet, una sindrome polimorfa.

The Laurence Moon Biedl Bardet syndrome is a polymorphous disease whose pathogenesis is still obscure. It is characterize by obesity, oligophrenia, polidactylia, retinitis pigmentosa, hipogonadism, but often there are various others symptoms. AA describe two cases. After a short explanation of de main features of this disease, they dwell upon the study of clinical objective symtomatology and upon instrumental and laboratory parameters regarding hormonal, metabolic and functional order of various organs and apparatuses. Both cases present all classic symptoms of this disease. In the first case we have noticed a deficit in LH and FSH, besides we have also noticed an asymmetry of the lateral ventricles of the brain prevalently on the right and a small increase in 17-KS and 17-OH-KS urinary. On the contrary in the second case we have noticed an EEG of epileptic type.

[Polymorphism of clinical manifestations and characteristics of imbecility in the Laurence-Moon-Biedl syndrome]. / Polimorfizm klinicheskikh proiavlenii i osobennosti slaboumiia pri sindrome Lorensa-Muna-Barde-Bidlia.

The incidence of all feasible phenotypic variants and clinical forms of the disease observed by neurologists and psychiatrists are calculated using probabilistic approaches. The Laurence-Moon-Barde-Biedl syndrome course and related dementia features were studied in 7 children of 5 families. The patients displayed intellectual degradation with distinct peculiarities in the defect structure.

[The Laurence-Moon-Bardet-Biedl syndrome]. / Sindrom Laurence-Moon-Bardet-Biedl.

The Laurence-Moon-Bardet-Biedl syndrome consists of: retinitis pigmentosa, adiposo-genital dystrophy, syndactyly, mental retardation. It is presented a patient with atypical retinitis pigmentosa--unilateral, sectorial and hypopigmentary form, as part of the Laurence-Moon-Bardet-Biedl syndrome.