Linguistic and gait disturbance in a child with Laurence-Moon-Biedl syndrome: left temporal and parietal lobe hypoplasia.

Laurence-Moon-Biedl syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, polydactyly, hypogenitalism, mental retardation, and renal abnormalities. We report the linguistic and gait disorders in a child with Laurence-Moon-Biedl syndrome associated with left temporal and parietal hypoplasia as determined by magnetic resonance imaging. Our patient was mildly mentally retarded, scoring better on the performance subtest than on the verbal subtest. He received serial assessments for developmental, language, speech, and gait functions, before and after rehabilitation, at age 4.5 and 6 yr, respectively. After comprehensive rehabilitation, the boy achieved improvement in speech, language, fine motor, and gait functions. Early comprehensive rehabilitation programs seem beneficial for improving functional development for children with Laurence-Moon-Biedl syndrome.

Estudio Delphi de la Sociedad Valenciana de Cirugía: tratamiento quirúrgico del cáncer gástrico / A Delphi study by the Surgical Society of Valencia, Spain: surgical treatment of gastric cancer

Se presentan los resultados del primer estudio de consenso auspiciado por la Sociedad Valenciana de Cirugía sobre el tratamiento quirúrgico del cáncer gástrico. Se trata de un esudio tipo Delphi, con la participación de 31 expertos pertenecientes a la mayoría de hospitales de la Comunidad Valenciana. Los temas consensuados han versado sobre los siguientes aspectos: nutrición artificial, métodos de estadificación preoperatoria, tipo de resección y de linfadenectomía, técnicas de reconstrucción, criterios de resecabilidad y temas de organización (AU)

Early sonographic aspects of kidney morphology in Bardet-Biedl syndrome.

Bardet-Biedl syndrome is an autosomal recessive disorder characterized by postaxial hexadactyly, obesity, mental retardation, pigmented retinopathy, hypogonadism, and renal disease. Morphological changes are present in all areas of the kidney, the renal medulla being the most frequently affected site. Cystic and dysplastic changes are prevalent. Seven children from five families were followed from birth through their 5th birthday. Serial renal sonography revealed a number of characteristic features. Bilateral renal enlargement and increased parenchymal echogenicity were present at birth. The usual corticomedullary differentiation was absent. Pyramids were either not seen or deformed. With high-resolution ultrasonography, small cysts were detected at the corticomedullary junction. After the 3rd month of life, there was a striking inversion of normal echogenicity, the inner medulla became more echogenic and was demarcated from the less-echogenic cortex. After 12 months, the kidney size regressed significantly. Fetal lobulation persisted in some patients. In conclusion, ultrasonography is a useful tool to evaluate the extent of renal lesions, but more importantly to differentiate bilateral polycystic kidney diseases in the newborn period.

'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.

Laurence-Moon-Biedl syndrome: scintigraphic appearance of kidneys.

We report a 7-year-old child with Laurence-Moon-Biedl syndrome, an autosomal recessive syndrome, with impaired renal function detected by means of technetium-99m diethylenetriamine-pentaacetic acid (Tc-99m DTPA), technetium-99m dimercaptosuccinic acid (Tc-99m DMSA) scintigraphy, and ultrasonography. The altered renal morphology and decreased renal functions are documented.

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome.

AIMS: To describe the variation of the phenotype within families with several individuals with Bardet-Biedl syndrome. METHODS: The phenotypes of affected siblings in 11 Scandinavian families with two or more members who had at least three of the features: retinal dystrophy, polydactyly, obesity, hypogenitalism, and mental retardation, were compared [corrected]. Individuals without retinal dystrophy were excluded. RESULTS: Intrafamilial variation of expressivity of the features obesity, polydactyly, abnormal radiograms of the extremities, hypogenitalism, short stature, paraplegia, and dental abnormalities was found. The retinal dystrophy varied with respect to both the onset of symptoms and the course of the disease. The morphology of the fundus, however, was consistent within the families. The disorder showed statistically significant genetic linkage to the BBS4 locus on chromosome 15 in the affected siblings in two of the families, but the clinical features in these patients did not differ from the other cases of Bardet-Biedl syndrome. CONCLUSION: Comparison of siblings with the Bardet-Biedl syndrome showed variation of the typical features. In addition, the course of retinal dystrophy varied. No distinctive clinical features were found to separate the BBS4 phenotype from the remaining patients.

Ocular findings in the Laurence-Moon-Bardet-Biedl syndrome.

PURPOSE: To improve the description of the ocular part of the Laurence-Moon-Bardet-Biedl syndrome. METHODS: We examined 44 Scandinavian individuals who all had retinal dystrophy plus at least 2 more of the traditional cardinal signs of the syndrome: obesity, hypogenitalism, polydactyly and mental retardation. RESULTS: Full-field electroretinograms were obtained in 36 of the individuals and were abnormal in all. The dark adaptation thresholds were elevated by on average 3.5 log units. Symptoms of night blindness were observed at a mean age of 4 years and visual problems at daytime at 6-7 years. No one exceeding the age of 16 had a best corrected visual acuity of more than 0.1. In the fundus attenuated vessels were noted at all ages while macular pigmentations and a wax-pale optic disc appeared at age 6-7 years. Pigmentary changes in the midperiphery were noted at the earliest at 13 years of age and appeared mainly as bone spicules, however, in a minority of cases the pigmentations were atypical. Ten of the participants had been followed through a period of 9 years. Their visual acuity was reduced by on average 0.3 line (decimals) and the angle of visual fields by approximate 3 degrees (Goldmann standard object V:4e) per year through the adolescence. CONCLUSION: The ocular disease in Laurence-Mood-Bardet-Biedl syndrome presents early, the prognosis for visual function is poor and the fundus features are atypical and varying.

Full-field electroretinograms in individuals with the Laurence-Mood-Bardet-Biedl syndrome.

PURPOSE: To evaluate rod and cone function in individuals with the Laurence-Moon-Bardet-Biedl syndrome. METHODS: We obtained a full-field electroretinograms in 36 patients. If responses less than 10 microV were recorded with single white flashes a special techniques with narrow band filter and computer averaging was used. RESULTS: No rod responses to dim blue light could be obtained in any of the patients. Residual cone flicker responses were measurable in 28 of the individuals. Those with amplitudes < 0.05 microV were significantly older than those with amplitudes > 1.00 microV. The ERG pattern was consistent within affected pairs of siblings in 8 families. CONCLUSION: The retinal dystrophy in Laurence-Moon-Bardet-Biedl syndrome is primarily a rod-cone dystrophy, but even cone flicker amplitudes are severely reduced with further progression with age. There is no intrafamilial variability of the electroretinograms in affected siblings.

Empty sellae, impaired testosterone secretion, and defective hypothalamic-pituitary growth and gonadal axes in children with Bardet-Biedl syndrome.

We evaluated growth parameters and hypothalamic-pituitary-gonadal and growth functions in five children with Bardet-Biedl syndrome (BBS). Three of the five children had stature below the fifth percentile for age. Their growth hormone (GH) response to provocation was defective, and computed tomographic (CT) scanning revealed empty sellae in all of them. All the children were obese (body mass index [BMI] > 95th percentile for age). Three had hypercholesterolemia. Their basal serum testosterone concentration and testosterone response to 3-day human chorionic gonadotropin (HCG) stimulation were significantly lower than the levels in 12 age-matched obese normal children. Testosterone secretion failed to respond to HCG therapy for 4 weeks. Both basal gonadotropin levels (luteinizing hormone [LH] and follicle-stimulating hormone [FSH]) and gonadotropin responses to LH-releasing hormone (LHRH) stimulation were normal and did not differ among the two study groups. It appears that primary hypogonadism is a cardinal feature of BBS, and it may be accompanied by hypothalamic and pituitary abnormalities.

Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Moon-Bardet-Biedl syndrome.

This paper reports a clinical and roentgenological examination of the teeth, jaws and saliva of 29 Scandinavian individuals with Laurence-Moon-Bardet-Biedl (LMBB) syndrome, whose cardinal signs are retinal dystrophy, polydactyly, obesity, hypogenitalism and mental retardation. All subjects had at least three of these signs, including retinal dystrophy. Compared with normal subjects, the group had statistically significantly higher frequencies of hypodontia, small teeth and short roots. In addition, the saliva showed a buffering capacity higher than normal. In conclusion, there seem to exist disturbances of both dental and skeletal formation in the LMBB syndrome.

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.

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.

[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.

Natural course of visual functions in the Bardet-Biedl syndrome.

OBJECTIVE: To determine the course of visual functions in patients with Bardet-Biedl syndrome. PATIENTS AND METHODS: The 21 patients with Bardet-Biedl syndrome seen at Children's Hospital, Boston, Mass, had optotype and grating acuities and dark-adapted thresholds measured over time. Their ages at first visit ranged from 2 weeks to 23 years (median age, 6 years). The courses of the visual functions were analyzed with a random-effects model. RESULTS: Substantial declines in visual functions were found. On average, grating and optotype acuities declined 0.09 log units (roughly 1 line) per year, and thresholds increased about 0.19 log units per year. The rates at which these visual functions were lost and the predicted level of the visual functions at ages 11 to 12 years (the mean ages of measurement) varied among individuals. CONCLUSIONS: The visual prognosis for children with Bardet-Biedl syndrome is poor. The course of both central and peripheral visual functions is variable.

[Bardet-Biedl syndrome: subclinical renal disorders in 2 siblings]. / Síndrome de Bardet-Biedl: alteraciones renales subclínicas en dos hermanos.

Two siblings with Bardet-Biedl's syndrome are studied, in whom renal structural and functional disorders were observed, with reduction in the ability to concentrate urine in both cases and decrease of creatinine clearance in the second case. The study of the hypophyseal function was normal.

[Neuro-otological study of Laurence-Moon-Biedl syndrome].

Two siblings of Laurence-Moon-Biedl (L-M-B) syndrome with nystagmus and/or sensorineural hearing loss were reported. One sibling had a slight hearing impairment as well as gaze and rebound nystagmus. The auditory brainstem responses (ABR) showed increased latencies of wave V on both ears. The optokinetic nystagmus (OKN) was limited toward the both horizontal sides. Nystagmus was superimposed on the eye tracking movement. Ocular hypermetria was observed, with bilateral weakness of caloric responses and even a failure of visual fixation suppression. Another sibling had a left-beating spontaneous nystagmus. The latencies of wave V of ABR were prolonged in both ears. The leftward OKN was limited and bilateral saccadic pursuits observed on eye tracking test. These results suggest that cerebellar of brain-stem lesions may be involved in L-M-B syndrome.

Patterns of rod and cone dysfunction in Bardet-Biedl syndrome.

We studied visual function in 16 patients with the Bardet-Biedl syndrome. Visual acuity, kinetic perimetry, and electroretinography results indicated a severe loss of central and peripheral vision and rod and cone function by the second or third decade of life. Light- and dark-adapted static perimetry in patients 10 to 15 years of age with early involvement showed a parallel and marked loss of rod and cone sensitivity across the visual field. Patients with more advanced disease and no measurable peripheral visual field showed different patterns of central visual dysfunction: an island of only cone function centered in a bull's-eye lesion; patches of rod function surrounding geographic atrophy; or a central island of excellent rod sensitivity but severely impaired cones. In the two least-affected patients, a 13-year-old boy and the asymptomatic 45-year-old sibling of a patient, there were more rod than cone abnormalities as determined by electroretinography and static perimetry.