Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.

McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. Bardet-Biedl syndrome (BBS) is the generic name for a genetically heterogeneous group of autosomal recessive disorders characterised by retinal dystrophy or retinitis pigmentosa (appearing usually between 10 and 20 years of age), postaxial polydactyly, obesity, nephropathy, and mental disturbances, or, occasionally, mental retardation. Typically, MKKS is diagnosed (and reported) in very young children, whereas the diagnosis of BBS often is delayed to the teenage years. We report here a series of nine patients diagnosed in infancy with MKKS because of the presence of vaginal atresia and postaxial polydactyly, who later developed obesity and retinal dystrophy, thus turning out to be instances of BBS. The overlap of BBS and MKKS is a real diagnostic pitfall and its importance has to be stressed, for genetic counselling, for clinical management and follow up, and for molecular approaches. The diagnosis of MKKS should be considered with caution in all published cases described exclusively in the neonatal period and in those with mental retardation. We strongly recommend all children seen in infancy with a diagnosis of MKKS to be re-evaluated for RP and other signs of BBS.

'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.

Electroretinographic alterations in the Laurence-Moon-Bardet-Biedl phenotype.

Maximal 0.5-Hz and cone 30-Hz ERG responses were recorded from 19 patients showing a Laurence-Moon-Bardet-Biedl (LMDD) phenotype. Off-line averaging of 80 to 100 iterations was routinely performed. When needed, our previously described low-noise techniques and off-line fast Fourier transform procedures were used. The maximal ERG response was non-detectable in 52.6% of cases. About half of the recordable signals were below 5% of the lower normal amplitudes. Cone 30-Hz ERGs were measurable in 64.7% of cases. Of these, 63% of tracings were below 5% of the lower normal range. In most cases no dystrophic pattern was definable, due to severe reduction of both signals. Statistical analyses showed no correlation between ERG amplitudes and residual visual field areas. Clinical and electroretinographic observations suggest that retinopathy in most LMBB patients is a widespread form of degeneration, initially affecting rods but rapidly involving cones as well. However, there are also cases with a clear-cut cone-rod pattern, with fairly well preserved maximal ERG responses. The lack of correlation between maximal ERG responses and visual field residual areas, different from non-syndromic retinitis pigmentosa (RP) patients, could be related either to a low reliability of visual field testing in LMBB patients or to mechanisms accounting for the ongoing retinal degeneration in LMBB syndrome that are different from those of pure RP. Variable findings are in line with the documented genetic heterogeneity of the syndrome.

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.

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.

[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.

Síndrome de Laurence-Moon-Biedl / Laurence-Moon-Biedl syndrome

Os autores apresentam um caso de síndrome de Laurence-Moon-Biedl (síndrome de LMB), destacando a sua raridade e descrevendo suas principais manifestaçoes, com aspectos encontrados à fundoscopia, além de sua associaçao incomum com a diabetes mellitus.

[Laurence-Moon (Bardet-Biedl) syndrome with growth hormone deficiency]. / Syndrome de Laurence-Moon (Bardet-Biedl) avec déficit en hormone de croissance.

BACKGROUND: The features of Laurence-Moon syndrome vary widely from mental retardation, hypogenitalism to retinopathy; the dominant one is progressive neurological involvement, ataxia and spastic paraplegia. Like Bardet-Biedl syndrome, its inheritance is autosomal recessive. This paper describes the endocrine investigation of a new family of Laurence-Moon syndrome subjects. CASE REPORT: The 5 patients (3 girls, 2 boys) in this family of 12 sibs, all suffered from retinopathy, mental retardation and first metacarpal hypoplasia with proximal placement of thumb. All five had had spastic paraplegia since the age of 5-6 years, growth retardation and hypogonadism. Two had had seizures; only one was obese. RESULTS: Four patients (2 girls, 2 boys, aged 19, 15, 18 and 19 years) had low basal plasma FSH and LH levels. They had no FSH-LH response to gonadotropin-releasing hormone; their plasma testosterone and oestradiol concentrations were very low. The growth hormone peak in response to arginine-insulin were low in these 4 patients (1.5 ng/ml; 3.8 ng/ml; 5 ng/ml; 4.8 ng/ml). One boy and one girl were given sex steroids for a few months, with good effect on their sexual characters. Their growth hormone levels remained low (2.9 ng/ml, 6.5 ng/ml). One boy was given FSH and LH analogues with good effects on sexual characters and testicle growth. He was also given growth hormone, and had a growth spurt of 5.5 cm after 9 months treatment. CONCLUSION: The hypogonadism of Laurence-Moon patients seems to be of central origin. It is associated with growth hormone deficiency.

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.

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.