ABSTRACT
PURPOSE: To describe the ocular and refractive findings in patients with Laurence-Moon-Biedl syndrome. METHODS: Seventeen patients with Laurence-Moon-Biedl syndrome were evaluated retrospectively. All children underwent complete ophthalmologic examination. RESULTS: Of the patients evaluated, 88.2% had an ocular or refractive finding, 58.8% had myopia (degenerative in three cases), 52.9% had astigmatism, 11.7% had an-isometropia, 17.6% had strabismus, 11.7% had retinitis pigmentosa, 5.9% had keratoconus, 5.9% had optic atrophy, and 5.9% had nystagmus. CONCLUSION: Early and regular ophthalmologic assessment is required to prevent visual loss as a result of amblyogenic factors in children with Laurence-Moon-Biedl syndrome.
Subject(s)
Laurence-Moon Syndrome/complications , Refractive Errors/etiology , Strabismus/etiology , Adolescent , Child , Corneal Topography , Female , Follow-Up Studies , Humans , Male , Ophthalmoscopy , Refraction, Ocular , Refractive Errors/diagnosis , Retrospective Studies , Strabismus/diagnosis , Visual AcuityABSTRACT
No disponible
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Sclerosis/etiology , Peritonitis/etiology , Peritoneal Dialysis/adverse effects , Renal Dialysis/adverse effects , Laurence-Moon Syndrome/complications , Peritonitis/prevention & controlABSTRACT
A 15-year-old girl presented with the rare Laurence-Moon-Biedl syndrome, accompanied by vaginal atresia, and cervical dysgenesis. She was treated by hysterectomy and construction of a neovagina with bilateral pudendal thigh flaps. Two brothers and a sister (one of twins) were unaffected but the remaining brother also had the disease.
Subject(s)
Cervix Uteri/abnormalities , Laurence-Moon Syndrome/complications , Vagina/abnormalities , Adolescent , Cervix Uteri/surgery , Female , Humans , Hysterectomy , Laurence-Moon Syndrome/genetics , Pedigree , Surgically-Created Structures , Vagina/surgeryABSTRACT
An autopsy case of a patient with diffuse brainstem glioma associated with Laurence-Moon-(Bardet-)Biedl syndrome is described. The subject was a 25-year-old woman who had been suffering from mental retardation, pigmented retinopathy, obesity, hexadactyly, amenorrhea and renal cysts. She developed dizziness, headache and consequent consciousness disturbance. Magnetic resonance images disclosed marked swelling of the pons without contrast enhancement. By means of combined chemotherapy and radiation, she survived for 15 months. Histopathological diagnosis for postmortem specimens obtained from the brainstem was glioblastoma multiforme. No pathogenetic association between the syndrome and brainstem gliomas is known, and the literature contains no cases of patients with this coincidence.
Subject(s)
Brain Stem Neoplasms/complications , Glioblastoma/complications , Laurence-Moon Syndrome/complications , Adolescent , Adult , Autopsy , Brain/pathology , Brain Stem Neoplasms/diagnosis , Brain Stem Neoplasms/genetics , Brain Stem Neoplasms/therapy , Fatal Outcome , Female , Glioblastoma/diagnosis , Glioblastoma/genetics , Glioblastoma/therapy , Humans , Magnetic Resonance ImagingABSTRACT
The most common otolaryngologic features associated with LMBBS include SNHL, speech and language disorders, and oral and dental abnormalities. Early otolaryngologic, audiologic, speech pathology, and dental evaluation of these individuals is recommended. This is the first reported case of bifid epiglottis, a rare congenital laryngeal anomaly, found in association with LMBBS. Most patients with bifid epiglottis have additional congenital anomalies, most commonly polysyndactyly. Polysyndactyly is a feature of both LMBBS and bifid epiglottis and may be an early hallmark for the presence of other congenital anomalies.
Subject(s)
Epiglottis/abnormalities , Laurence-Moon Syndrome , Child , Humans , Laurence-Moon Syndrome/complications , MaleABSTRACT
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.
Subject(s)
Kidney/diagnostic imaging , Laurence-Moon Syndrome/diagnostic imaging , Child , Female , Humans , Hydronephrosis/complications , Hydronephrosis/diagnostic imaging , Hydronephrosis/physiopathology , Kidney/abnormalities , Kidney/physiopathology , Laurence-Moon Syndrome/complications , Laurence-Moon Syndrome/physiopathology , Organotechnetium Compounds , Radionuclide Imaging , Succimer , Technetium Tc 99m Dimercaptosuccinic Acid , Technetium Tc 99m PentetateABSTRACT
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.
Subject(s)
Laurence-Moon Syndrome/complications , Retinal Degeneration/complications , Adolescent , Adult , Age Factors , Child , Child, Preschool , Color Perception/physiology , Dark Adaptation , Electroretinography , Female , Fundus Oculi , Humans , Intraocular Pressure/physiology , Laurence-Moon Syndrome/pathology , Laurence-Moon Syndrome/physiopathology , Male , Middle Aged , Prognosis , Retinal Degeneration/pathology , Retinal Degeneration/physiopathology , Sensory Thresholds , Visual Acuity/physiology , Visual Fields/physiologyABSTRACT
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.
Subject(s)
Empty Sella Syndrome/complications , Genitalia, Male/physiopathology , Hypothalamo-Hypophyseal System/physiopathology , Laurence-Moon Syndrome/complications , Laurence-Moon Syndrome/physiopathology , Testosterone/metabolism , Adolescent , Child , Growth , Hormones/blood , Humans , Laurence-Moon Syndrome/classification , MaleABSTRACT
OBJECTIVE: To identify radiological changes of the hands and feet in a large group of patients with Laurence-Moon-Bardet-Biedl syndrome. DESIGN: Postero-anterior views of hands and feet were obtained and analysed. PATIENTS: The material consists of 43 Scandinavian patients with the syndrome (24 males and 19 females; age 3 weeks to 57 years, median 23 years at the time of radiological examination). RESULTS AND CONCLUSIONS: Polydactyly of the hands and feet is one of the main criteria. This was noted clinically in 33 of 43 patients, but all but 3 had been operated on before this radiological study. Remnants of the extirpated finger or toe noted as exostoses, additional joint surfaces of duplication were found in half the hands and feet, while the remainder showed no radiological changes. Other features found were short, broad bones and flat joint surfaces of the metacarpophalangeal or metatarsophalangeal joints. We also found a high frequency of short or long ulna in relation to the radius and Madelung deformity of the wrist in several patients. Thus, the radiographs showed several non-specific normal variations besides remnants or postoperative changes after polydactyly.
Subject(s)
Bone and Bones/diagnostic imaging , Foot Deformities, Congenital/diagnostic imaging , Hand Deformities, Congenital/diagnostic imaging , Laurence-Moon Syndrome/diagnostic imaging , Adolescent , Adult , Bone and Bones/abnormalities , Child , Child, Preschool , Female , Foot Deformities, Congenital/complications , Hand Deformities, Congenital/complications , Humans , Infant , Infant, Newborn , Laurence-Moon Syndrome/complications , Male , Middle Aged , RadiographyABSTRACT
An ano-cutaneous fistula associated with a Bardet-Biedl syndrome in a 12-year old African boy is described. The patient presented with mental retardation, obesity, syndactyly, polydactyly, retinitis pigmentosa and hypogenitalism. Past history revealed that he had an imperforated anus with anocutaneous fistula at birth, which was repaired successfully. The the best of our knowledge, it is the first case described in the African literature.
Subject(s)
Cutaneous Fistula/etiology , Laurence-Moon Syndrome/complications , Rectal Fistula/etiology , Africa/epidemiology , Child , Cutaneous Fistula/epidemiology , Cutaneous Fistula/surgery , Humans , Laurence-Moon Syndrome/epidemiology , Male , Rectal Fistula/epidemiology , Rectal Fistula/surgeryABSTRACT
Two cases of renal transplantation in pediatric patients with Laurence-Moon-Biedl syndrome are reported. Immunosuppressive therapy consisted of cyclosporine, prednisone and azathioprine. Renal function has been good but both patients developed morbid obesity.
