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

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

scholarly journals Bardet Biedl Syndrome: A Case Report

2019 ◽  
Vol 9 (2) ◽  
pp. 162-164
Author(s):  
Md Masud Un Nabi ◽  
Md Faruque Pathan ◽  
Milton Barua
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Night Blindness ◽  
Autosomal Recessive ◽  
Liver Enzymes ◽  
Autosomal Recessive Disorder ◽  
Bardet Biedl Syndrome ◽  
Elevated Liver Enzymes ◽  
Hormonal Evaluation

Bardet Biedl syndrome is a rare heterogenous autosomal recessive disorder. A very few cases were reported in Bangladesh. A 12-year-old boy presented with childhood obesity, polydactyly in all 4 limbs, bilateral gynaecomastia, acanthosisnigricans, night blindness and mental retardation. After hormonal evaluation he was found to have hypogonadotrophichypogonadism, dislipidaemia, renal impairment, elevated liver enzymes and retinitis pigmentosa. We advised him to reduce weight and implemented and weight reducing diet. Levothyroxine and metformin were started. He was scheduled for eye check-up every 3 months and follow up at endocrinology. Birdem Med J 2019; 9(2): 162-164

scholarly journals Bardet Biedl Syndrome- A Case Report

1970 ◽  
Vol 20 (1) ◽  
pp. 56-59
Author(s):  
M Azizul Haque ◽  
LS Sharmin ◽  
Q Tarikul Islam ◽  
ARM Saifuddin Ekram
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Autosomal Recessive ◽  
Wide Spectrum ◽  
Retinal Dystrophy ◽  
Male Hypogonadism ◽  
Bardet Biedl Syndrome ◽  
Autosomal Recessive Condition ◽  
Characteristic Features ◽  
Criteria For Diagnosis

Bardet Biedl syndrome is a rare autosomal recessive condition with a wide spectrum of clinical features. The accepted major criteria for diagnosis include retinal dystrophy, obesity, polydactyly, male hypogonadism, mental retardation and renal dysfunction. We have presented a 16 year old male patient exhibiting characteristic features of Bardet Biedl syndrome (BBS) and then the literature is reviewed.   doi: 10.3329/taj.v20i1.3092 TAJ 2007; 20(1):56-59

scholarly journals Laurence -Moon-Bardet- Biedl syndrome with Diabetes Mellitus

1970 ◽  
Vol 13 (1) ◽  
pp. 97-99
Author(s):  
Monzoor Quader ◽  
Mohammad Syedul Islam ◽  
Quazi Mamatz Uddin Ahmed ◽  
Md Abul Kalam Azad ◽  
Md Abdur Rahim
Keyword(s):  
Diabetes Mellitus ◽  
Renal Cell Carcinoma ◽  
Mental Retardation ◽  
Central Obesity ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Cone Dystrophy ◽  
Learning Difficulty ◽  
Bardet Biedl Syndrome ◽  
Increased Risk

A 13 year old boy presented with obesity, reduced vision, mental retardation, hypogonadism, delayed development and learning difficulty. On examination, he had polydactyly, moon face, bilateral gynaecomastia, small penis and testis. Retinitis pigmentosa was found on fundoscopy. With these typical features, he was diagnosed as a case of Laurence-Moon-Bardet-Beidle syndrome. It is a rare autosomal recessive disorder with mutation in 6 loci identified so far. It is commonly found in communities with high inter-family marriage. Clinical features appear early in childhood and diagnosis is usually done by puberty. Prominent features include rod-cone dystrophy leading to blindness, postaxial polydactyly, central obesity, learning disability, hypogonadism in males, renal dysfunction with increased risk for renal cell carcinoma. DOI: http://dx.doi.org/10.3329/jom.v13i1.10083 JOM 2012; 13(1): 97-99

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

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.

Granulomatous panuveitis associated with Hodgkin lymphoma: A case report with review of the literature

2020 ◽  
pp. 112067212096903
Author(s):  
Abdulaziz A Alshamrani ◽  
Waleed K Alsarhani ◽  
Abdulrahman A Aljasser ◽  
Marcos J Rubio-Caso
Keyword(s):  
Case Report ◽  
Hodgkin Lymphoma ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Clinical Signs ◽  
Cervical Lymphadenopathy ◽  
Intraocular Lymphoma ◽  
Review Of The Literature ◽  
Diagnostic Challenge ◽  
Non Hodgkin Lymphoma

Background: Intraocular lymphoma (IOL) is an uncommon ophthalmic malignancy and poses a diagnostic challenge. Uveitis associated with systemic lymphoma (USL) has been predominantly attributed to non-Hodgkin lymphoma (NHL) and rarely reported with Hodgkin lymphoma (HL) in the literature. Methods: Case report with review of the literature. Results: A 25-year-old healthy male presented with bilateral granulomatous panuveitis including vasculitis and discrete chorioretinal yellowish-white lesions. Macular optical coherence tomography (OCT) of both eyes revealed a disruption of ellipsoid and interdigitation zones over the areas of subretinal lesions as well as a small sub-retinal pigment epithelium (RPE) deposit in one eye. Thorough uveitis workup revealed clavicular, axillary and cervical lymphadenopathy, and biopsy of lymph nodes confirmed the diagnosis of nodular lymphocyte-predominant (NLP) HL. Six months later and after receiving chemotherapy, all symptoms and most of clinical signs resolved. Conclusions: Clinical features of USL do not differ between HL and NHL. However, the age of presentation may be much younger in HL. Ocular manifestations can precede systemic HL diagnosis, as shown in our patient. Therefore, USL should be part of the differential diagnosis of panuveitis. Paraneoplastic inflammation is thought be the cause of uveitis associated with HL. The sub-RPE deposit and disruption of ellipsoid and interdigitation zones on OCT have not been documented before as a manifestation of uveitis secondary to HL. In addition, the NLP subtype of HL was reported in only 1 case with uveitis in the literature.

scholarly journals A Rare and Fatal Complication of a Self-Limiting Infection: A Case Report on Dengue Associated Hemophagocytic Lymphohistiocytosis

2019 ◽  
Vol 30 (2) ◽  
pp. 93-95
Author(s):  
Alvin Oliver Payus ◽  
Cheong Lei Wah ◽  
Syahrul Sazliyana Shaharir
Keyword(s):  
Case Report ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Autosomal Recessive ◽  
De Novo ◽  
Medical Condition ◽  
Early Recognition ◽  
Genetic Disorder ◽  
Intravenous Methylprednisolone ◽  
Appropriate Treatment ◽  
Life Threatening

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening medical condition characterized by hyperphagocytosis secondary to an inappropriate over-activation of macrophages and lymphocytes that driven by excessive cytokines production which resulted in cellular destructions. It can arise de novo as a result of an autosomal recessive genetic disorder, or in the background of an infection, malignancy or autoimmune disease. Dengue fever is one of the uncommon causes of infection related secondary HLH. Here, we present a case of a Dengue associated HLH which was successfully treated with intravenous methylprednisolone and immunoglobulin G. In conclusion, the purpose of this case report is to illustrate the importance of early recognition and prompt initiation of the appropriate treatment for HLH suspected patient whom otherwise has high mortality rate. Bangladesh J Medicine July 2019; 30(2) : 93-95

scholarly journals A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Yue Zhang ◽  
Manhong Xu ◽  
Minglian Zhang ◽  
Guoxing Yang ◽  
Xiaorong Li
Keyword(s):  
Mental Retardation ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sanger Sequencing ◽  
Chinese Family ◽  
Cone Dystrophy ◽  
Bardet Biedl Syndrome ◽  
Homozygous Variant ◽  
Whole Exome

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by polydactyly, obesity, rod-cone dystrophy, and mental retardation. Twenty-one genes have been identified as causing BBS. This study collected a BBS pedigree from two patients and performed whole-exome sequencing on one patient. We identified a novel homozygous variant c.1114C>T (p.Q372X) in the BBS9 of the two siblings. This variant was confirmed and completely cosegregated with the disease of this family by Sanger sequencing. We report a novel homozygous variant c.1114C>T in the BBS9 gene in a Chinese family.

scholarly journals Bilateral Severe Genu Varum in Dyggve-Melchior-Clausen Syndrome – A Case Report

2021 ◽  
Vol 11 (8) ◽  
Author(s):  
Amit Kumar Yadav ◽  
Farokh Wadia ◽  
Sangeet Gawhale ◽  
Sameer Panchal ◽  
Pritam Talukder ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Family History ◽  
Autosomal Recessive ◽  
Iliac Crest ◽  
Plain Radiograph ◽  
Genu Varum ◽  
Radiological Sign ◽  
Recessive Type ◽  
Spondyloepimetaphyseal Dysplasia

Introduction: Dyggve-Melchior-Clausen (DMC) syndrome was described in 1962 as an autosomal recessive type of spondyloepimetaphyseal dysplasia associated with mental retardation. Dymeclin (DYM) gene on chromosome 18q12.1 that encodes for DYM protein which is expressed in cartilage, bone, and brain is mutated in DMC. Case Report: A 6 year -old male child presented with bilateral gradually progressive genu varum deformity of 4 years’ duration. There was no significant past medical and family history. A plain radiograph of his knee, pelvis, and spine shows some classical signs of skeletal dysplasia. A plain radiograph of the pelvis with both hips shows a classical semilunar, irregular lacy appearance around the iliac crest which is a pathognomonic radiological sign of this syndrome. Conclusion: The radiographic lacy appearance of iliac crests and generalized platyspondyly with double-humped end plates are pathognomonic of DMC. Keywords: Genu varum, Dyggve-Melchior-Clausen syndrome, spondyloepimetaphyseal dysplasia.

scholarly journals Imaging manifestations of juvenile hyaline fibromatosis: A case report and literature review

2022 ◽  
Author(s):  
Jinfen Yu ◽  
Wang Linsheng ◽  
Tian Jing ◽  
Yu Xuewen ◽  
Lixin Sun
Keyword(s):  
Skeletal Muscle ◽  
Case Report ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Juvenile Hyaline Fibromatosis ◽  
Autosomal Recessive Condition ◽  
Hypointense Signal ◽  
Head Neck ◽  
Chromosome 4Q21 ◽  
Hyaline Material

Objective: Juvenile hyaline fibromatosis (JHF) is an autosomal recessive condition caused by a mutation in capillary morphogenesis gene 2 (CMG2) on chromosome 4q21. JHF is an extremely rare genetic disorder, and fewer than a hundred cases have been reported worldwide. In this case report, the clinical features, histopathological features and imaging manifestations of a case of JHF are presented. We present imaging manifestations of one case of JHF to deepen the radiologist’s understanding of this condition. The histopathological feature of JHF is hyaline degeneration involving skeletal muscle. Therefore, the lesion has a slightly high density on CT imaging, iso- or hypointense signal on T1WI and hypointense signal on T2WI. The boundary between the lesion and skeletal muscle is unclear. Methods: An 8-year-old male (case 1) was examined in our department with a complaint of multiple masses on the head, neck and back in 2021. The boy was the only child of his parents and was delivered at 40 weeks gestation by caesarean section. His parents were nonconsanguineous. Results : JHF displays multiple slowly or rapidly growing subcutaneous nodules. The imaging manifestations can reflect histopathological components, including nodular connective tissue and amorphous, partially calcified hyaline material.

scholarly journals Neuro-Ophthalmological Findings in Friedreich’s Ataxia

2021 ◽  
Vol 11 (8) ◽  
pp. 708
Author(s):  
Pilar Rojas ◽  
Rosa de Hoz ◽  
Manuel Cadena ◽  
Elena Salobrar-García ◽  
José A. Fernández-Albarral ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Friedreich Ataxia ◽  
Clinical Signs ◽  
Chromosome 9 ◽  
Sensory Loss ◽  
Ocular Involvement ◽  
Pes Cavus ◽  
First Intron ◽  
Children And Young Adults

Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by a severe autosomal recessive genetic disorder of the central nervous (CNS) and peripheral nervous system (PNS), affecting children and young adults. Its onset is before 25 years of age, with mean ages of onset and death between 11 and 38 years, respectively. The incidence is 1 in 30,000–50,000 persons. It is caused, in 97% of cases, by a homozygous guanine-adenine-adenine (GAA) trinucleotide mutation in the first intron of the frataxin (FXN) gene on chromosome 9 (9q13–q1.1). The mutation of this gene causes a deficiency of frataxin, which induces an altered inflow of iron into the mitochondria, increasing the nervous system’s vulnerability to oxidative stress. The main clinical signs include spinocerebellar ataxia with sensory loss and disappearance of deep tendon reflexes, cerebellar dysarthria, cardiomyopathy, and scoliosis. Diabetes, hearing loss, and pes cavus may also occur, and although most patients with FRDA do not present with symptomatic visual impairment, 73% present with clinical neuro-ophthalmological alterations such as optic atrophy and altered eye movement, among others. This review provides a brief overview of the main aspects of FRDA and then focuses on the ocular involvement of this pathology and the possible use of retinal biomarkers.

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