Laurence-Moon-Bardet-Biedl syndrome

Lawrence-Moon-Bardet-Biedl syndrome is a rare autosomal recessive genetic disorder, which may result in a number of multiorgan abnormalities, including impaired brain function, eye diseases, kidney and limbs’ dysfunction. The main symptoms of this syndrome include retinal degeneration, polydactyly, obesity, hypogonadism, congenital kidney abnormalities and mental retardation. However, Lawrence-Moon-Barde-Biedl syndrome may also present with other secondary abnormalities, including ataxia, diabetes insipidus, and dental abnormalities. Clinical changes of the eyes include retinitis pigmentosa, low visual acuity, and vision loss, often due to photoreceptor disorders in the retinal tissue with macular degeneration, leading to night blindness and then, in most cases, can cause complete blindness. In patients with an archetypal manifestation of Lawrence-Moon-Barde-Biedl syndrome, abdominal obesity is common, even if the birth weight is usually normal. In addition, this group of patients has type 2 diabetes mellitus. A distinctive feature of this syndrome is postaxial polydactyly. Hypogonadism, which is a common sign of the disease, as usual can be diagnosed at early age in men in a form of micropenis and testicular hypoplasia).The paper presents clinicalcase of Lawrence-Moon-Barde-Bidle syndrome in a thirteen-year-old boy who referred to endocrinologist with complaints of excessivegain of body weight, memoryloss, visual impairment, difficulties in school, delayedsexual development. Ad ditional investigations enabled to establish the diagnosis of Laurence-Moon-Bardet-Biedl syndrome.

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Bardet Biedl Syndrome: A Rare Case Report in a Tertiary Care Teaching Hospital, Dhaka, Bangladesh

European Journal of Medical and Health Sciences ◽

10.24018/ejmed.2021.3.1.623 ◽

2021 ◽

Vol 3 (1) ◽

pp. 11-14

Author(s):

Sadia Saber ◽

Mohammad Dabir Hossain ◽

Mohammed Tarek Alam ◽

Mohammad Monower Hossain ◽

Suhail Gulzar

Keyword(s):

Rare Case ◽

Autosomal Recessive ◽

Genetic Disorder ◽

Tertiary Care ◽

Consanguineous Marriage ◽

Bardet Biedl Syndrome ◽

Excessive Weight ◽

Rare Case Report ◽

Males And Females ◽

Renal Abnormalities

Bardet Biedl Syndrome (BBS) is an infrequent ciliopathic autosomal recessive genetic disorder that produces many effects and affects various body systems. Consanguineous marriage is conventionally considered as the most frequent etiology. The primary characteristics of the disorder are gradual visual impairment caused by retinal abnormalities, excessive weight gain, learning disabilities, Postaxial Polydactyly, Hypogonadism in males, renal abnormalities (kidney malformations and/or malfunctions). It affects both males and females. There is currently no specific cure for BBS but children with BBS benefit greatly from therapies like physical, occupational, speech and vision services. We, here, have presented a young boy of 15 years with the features of Bardet Biedl Syndrome.

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Gaucher's Disease - A case report

MVP Journal of Medical Sciences ◽

10.18311/mvpjms/2015/v2/i2/788 ◽

2015 ◽

Vol 2 (2) ◽

pp. 130

Author(s):

Preeti Bajaj ◽

Jyoti Kasture ◽

Balbir Singh Shah

Keyword(s):

Autosomal Recessive ◽

Genetic Disorder ◽

Early Adulthood ◽

Lysosomal Storage ◽

Gaucher's Disease ◽

Gaucher’S Disease ◽

Type 3 ◽

Storage Disorders

Gaucher's Disease (GD) is an autosomal recessive systemic lysosomal storage disorder which is characterized by glucocerebroside deposition in cells of the macrophage-monocyte system as a result of a deficiency in lysosomal P-glycosidase (glucocerebrosidase). GD is a rare genetic disorder. It is the most common amongst the lysosomal storage disorders. GD has been categorised into three types based on the presence of central nervous involvement1. Type 1 is a non-neuronopathic form that presents in childhood or early adulthood. Type 2 is acute neuronopathic form that presents in childhood. It progresses rapidly and is fatal. Type 3 is chronic non-neuronopathic form that presents in childhood but is slowly progressive. Here we describe a case of a three and a half year old male child in whom a diagnosis of Gaucher's disease was made based on bone marrow biopsy and later confirmed by glucocerebrosidase levels estimation.

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Bardet-Bidel Syndrome: A Case Report

Chattagram Maa-O-Shishu Hospital Medical College Journal ◽

10.3329/cmoshmcj.v12i3.16719 ◽

2013 ◽

Vol 12 (3) ◽

pp. 67-69

Author(s):

Kamal Hossain ◽

Md Badruddoza

Keyword(s):

Autosomal Recessive ◽

Genetic Disorder ◽

Retinal Dystrophy ◽

Learning Difficulties ◽

Clinical Findings ◽

Bardet Biedl Syndrome ◽

Medical College ◽

Characteristic Features ◽

Human Genetic Disorder ◽

And Function

BardetBiedl syndrome (BBS) is a rare autosomal recessive ciliopathic human genetic disorder characterized by retinal dystrophy, truncal obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. Many associated minor features can be helpful in making a diagnosis and are important in the clinical management of BBS. The diagnosis is based on clinical findings and can be confirmed by sequencing of known disease-causing genes in 80% of patients. BBS genes encode proteins that localize to the cilia and basal body and are involved in cilia biogenesis and function. Mutations lead to defective cilia accounting in part for the pleiotropic effects observed in BBS. We have presented a 11 years old female patient exhibiting characteristic features of Bardet Biedl syndrome (BBS) and then the literature is reviewed. Chattagram Maa-O-Shishu Hospital Medical College Journal Volume 12, Issue 3, September 2013: 67-69

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Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple

Case Reports in Genetics ◽

10.1155/2013/159143 ◽

2013 ◽

Vol 2013 ◽

pp. 1-3

Author(s):

Tieneka M. Baker ◽

Erica L. Sturm ◽

Clesson E. Turner ◽

Scott M. Petersen

Keyword(s):

Autosomal Recessive ◽

Genetic Disorder ◽

Bardet Biedl Syndrome ◽

Variable Expression ◽

Snp Microarray ◽

Significant Family History ◽

First Case ◽

Novel Approach ◽

Human Genetic Disorder ◽

Echogenic Kidneys

Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathic human genetic disorder with variable expression that is difficult to diagnose in pregnancy without known risk factors. Homozygosity testing has been shown to be a useful tool in identifying BBS mutations and candidate genes in affected individuals. We present the first case of prenatal diagnosis of BBS in consecutive pregnancies aided by homozygosity testing via SNP microarray analysis. This case demonstrates a novel approach to the evaluation of recurrent echogenic kidneys in consanguineous couple with no significant family history.

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Laurence-Moon-Bardet-Biedl Syndrome: A case report

Paediatrica Indonesiana ◽

10.14238/pi59.6.2019.349-52 ◽

2019 ◽

Vol 59 (6) ◽

pp. 349-52

Author(s):

Md. Mozammel Haque ◽

Kamrunnaher Shultana ◽

Tahmina Binte Matin ◽

Md. Shohidul Islam Khan ◽

Abdullah Al Baki

Keyword(s):

Mental Retardation ◽

Case Report ◽

Autosomal Recessive ◽

Genetic Disorder ◽

Retinal Pigment ◽

Clinical Signs ◽

Mental Deficiency ◽

Cone Dystrophy ◽

Anal Atresia ◽

Bardet Biedl Syndrome

Laurence-Moon-Bardet-Beidl syndrome is a rare ciliopathic and pleiotropic human autosomal recessive genetic disorder.1 In 1886, Laurence and Moon explained a case of a 7-year-old female with rod-cone dystrophy, hypogenitalism, mental retardation, obesity, and polydactyly. In 1920, Bardet described a 4-year-old female patient presented with rod-cone dystrophy, obesity, polydactyly (11 toes), and mental retardation.1 Two years after Bardet’s report, Biedl highlighted the complete scenario of clinical signs which includes skull abnormalities, anal atresia, mental deficiency, and gastrointestinal conflicts.1 Since these discoveries, symptoms such as obesity, hypogonadism, retinal pigment defects, psychological hindrance, and polydactylismin in several conditions as combinations, frequently in children with normal parents (cousin marriages) has been termed as Laurence-Moon-Bardet-Biedl syndrome (LMBBS).1

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Observation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography

BMC Ophthalmology ◽

10.1186/s12886-021-01999-z ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Shengjuan Zhang ◽

Lifei Wang ◽

Zhiqiang Liu ◽

Huijing Sun ◽

Qian Li ◽

...

Keyword(s):

Fluorescein Angiography ◽

Vision Loss ◽

Genetic Disorder ◽

Retinal Pigment ◽

Peripheral Retina ◽

Fundus Fluorescein Angiography ◽

Bietti Crystalline Dystrophy ◽

Rpe Atrophy

Abstract Background Bietti crystalline dystrophy (BCD) is an autosomal recessive genetic disorder that causes progressive vision loss. Here, 12 patients were followed up for 1–5 years with fundus fluorescein angiography (FFA) to observe BCD disease progression. Methods FFA images were collected for 12 patients with BCD who visited our clinic twice or more over a 5-year period. Peripheral venous blood was collected to identify the pathogenic gene related to the clinical phenotype. Results We observed two types in FFA images of patients with BCD. Type 1 showed retinal pigment epithelium (RPE) atrophy in the macular area, followed by choriocapillaris atrophy and the subsequent appearance of RPE atrophy appeared at the peripheral retina. Type 2 showed RPE atrophy at the posterior pole and peripheral retina, followed by choriocapillaris atrophy around the macula and along the superior and inferior vascular arcades and the nasal side of the optic disc. The posterior and peripheral lesions of both type 1 and type 2 BCD subsequently extended to the mid-periphery; finally, all the RPEs and choriocapillaris atrophied, exposing the choroid great vessels, but type 2 macular RPE atrophy could last longer. Conclusions The characterization of two different types of BCD development provides a better understanding of the phenotype and the progression of the disease for a precise prognosis and prediction of pathogenesis.

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Observation of Natural Course Characteristics of Bietti Crystalline Dystrophy by Fundus Fluorescein Angiography

10.21203/rs.3.rs-236890/v1 ◽

2021 ◽

Author(s):

Shengjuan Zhang ◽

Lifei Wang ◽

Zhiqiang Liu ◽

Huijing Sun ◽

Qian Li ◽

...

Keyword(s):

Fluorescein Angiography ◽

Vision Loss ◽

Genetic Disorder ◽

Retinal Pigment ◽

Peripheral Retina ◽

Fundus Fluorescein Angiography ◽

Bietti Crystalline Dystrophy ◽

Rpe Atrophy

Abstract Background: Bietti crystalline dystrophy (BCD) is an autosomal recessive genetic disorder that causes progressive vision loss. Here, 12 patients were followed up for 1–5 years with fundus fluorescein angiography (FFA) to clarify BCD disease development and its classification. Methods: FFA images were collected for 12 patients with BCD who visited our clinic twice or more in 5 years. Peripheral venous blood was collected to identify a pathogenic gene related to the clinical phenotype.Results: FFA images identified two BCD types. Type 1 showed retinal pigment epithelium (RPE) atrophy at the macular area, followed by choriocapillaris atrophy, then RPE atrophy appeared at the peripheral retina. Type 2 showed RPE atrophy at the posterior pole and peripheral retina, followed by choriocapillaris atrophy around the macula and along the superior and inferior vascular arcades and optic disc nasal side. Then the posterior and peripheral lesions of type 1 and type 2 were extended to the mid-periphery; at last, all the RPE and choriocapillars atrophied, exposed choroid great vessels, but the macular RPE atrophy of type 2 can existed for a long time. Conclusions: The two different BCD development types provide a better understanding of the phenotype and the progression of the disease for a precise prognosis and prediction of pathogenesis.

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Rhinosinusitis in the Pediatric Patient with Cystic Fibrosis

Current Pediatric Reviews ◽

10.2174/1573396309666131209205748 ◽

2014 ◽

Vol 10 (3) ◽

pp. 198-201 ◽

Cited By ~ 2

Author(s):

Christopher Fundakowski ◽

Rosemary Ojo ◽

Ramzi Younis

Keyword(s):

Cystic Fibrosis ◽

Autosomal Recessive ◽

Pediatric Patients ◽

Surgical Intervention ◽

Chronic Sinusitis ◽

Genetic Disorder ◽

Symptomatic Relief ◽

Recurrence Rates ◽

Polyp Recurrence ◽

Sinonasal Polyposis

Cystic fibrosis (CF) is a common autosomal recessive genetic disorder where a deletion mutation and subsequent downstream alteration in transmembrane regulator proteins results in increased mucus viscosity. CF manifests clinically with chronic multisystem inflammation and recurrent infections. Nearly all children with CF have chronic sinusitis, and a large majority will have concurrent sinonasal polyposis. Chronic sinusitis and sinonasal polyposis in pediatric patients with CF can be managed conservatively initially, though most will fail medical management and require surgical intervention. Unfortunately, symptom resolution is marginal and polyp recurrence rates are high. Currently, no cure exists for CF and the mainstay of treatment is to provide symptomatic relief, and minimize disease morbidity.

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Plasma microRNA signature associated with retinopathy in patients with type 2 diabetes

Scientific Reports ◽

10.1038/s41598-021-83047-w ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Donato Santovito ◽

Lisa Toto ◽

Velia De Nardis ◽

Pamela Marcantonio ◽

Rossella D’Aloisio ◽

...

Keyword(s):

Type 2 Diabetes ◽

Diabetic Retinopathy ◽

Vision Loss ◽

External Validation ◽

Diabetic Patients ◽

Disease Biomarkers ◽

Response To Stress ◽

Severity Of The Disease ◽

Plasma Microrna

AbstractDiabetic retinopathy (DR) is a leading cause of vision loss and disability. Effective management of DR depends on prompt treatment and would benefit from biomarkers for screening and pre-symptomatic detection of retinopathy in diabetic patients. MicroRNAs (miRNAs) are post-transcriptional regulators of gene expression which are released in the bloodstream and may serve as biomarkers. Little is known on circulating miRNAs in patients with type 2 diabetes (T2DM) and DR. Here we show that DR is associated with higher circulating miR-25-3p (P = 0.004) and miR-320b (P = 0.011) and lower levels of miR-495-3p (P < 0.001) in a cohort of patients with T2DM with DR (n = 20), compared with diabetic subjects without DR (n = 10) and healthy individuals (n = 10). These associations persisted significant after adjustment for age, gender, and HbA1c. The circulating levels of these miRNAs correlated with severity of the disease and their concomitant evaluation showed high accuracy for identifying DR (AUROC = 0.93; P < 0.001). Gene ontology analysis of validated targets revealed enrichment in pathways such as regulation of metabolic process (P = 1.5 × 10–20), of cell response to stress (P = 1.9 × 10–14), and development of blood vessels (P = 2.7 × 10–14). Pending external validation, we anticipate that these miRNAs may serve as putative disease biomarkers and highlight novel molecular targets for improving care of patients with diabetic retinopathy.

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Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy

Practical Neurology ◽

10.1136/practneurol-2017-001711 ◽

2017 ◽

Vol 18 (1) ◽

pp. 52-56

Author(s):

Tahira N Choudry ◽

David Hilton-Jones ◽

Graham Lennox ◽

Henry Houlden

Keyword(s):

Autosomal Recessive ◽

Age Of Onset ◽

Axonal Neuropathy ◽

Elevated Serum ◽

Cerebellar Atrophy ◽

Recessive Ataxia ◽

Autosomal Recessive Ataxia ◽

Oculomotor Apraxia ◽

Ataxia With Oculomotor Apraxia

A 23-year-old woman had presented initially to a podiatrist complaining of poorly fitting shoes during her adolescence. After extensive neurological review, she was diagnosed with ataxia with oculomotor apraxia type 2. This is a progressive autosomal recessive ataxia associated with cerebellar atrophy, peripheral neuropathy and an elevated serum α-fetoprotein. Within Europe, it is the most frequent autosomal recessive ataxia after Friedreich’s ataxia and is due to mutations in the senataxin (SETX) gene. The age of onset is approximately 15 years.The diagnosis of oculomotor apraxia type 2 is often challenging. We provide a framework for assessing a young ataxic patient with or without oculomotor apraxia and review clues that will aid diagnosis. The prognosis, level of disability, cancer and immunosuppression risk all markedly differ between the conditions. Patients and their families need the correct diagnosis for genetic counselling, management and long-term surveillance with appropriate subspecialty services.

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