http://casereports.bmj.com This feed contains articles for BMJ Case Reports Subject Collection "Genetics" BMJ Case Reports http://casereports.bmj.com http://casereports.bmj.com/cgi/content/short/2013/apr29_1/bcr2012008491?rss=1 Pompe disease is characterised by deficiency of acid -glucosidase that results in abnormal glycogen deposition in the muscles. Alkaptonuria is caused by a defect in the enzyme homogentisate 1,2-dioxygenase with subsequent accumulation of homogentisic acid. We report the case of a 6-year-old boy diagnosed with Pompe disease and alkaptonuria. Urine organic acids and -glucosidase were measured. Homogentisate 1,2-dioxygenase (HGO) and acid alpha-glucosidase (GAA) genes were sequenced by Sanger DNA sequencing. The level of -glucosidase in white blood cells was markedly decreased (4 nm/mg) while the level of homogentisic acid was markedly increased (15 027 mmol/mol creatine). GAA sequencing detected two heterozygous GAA mutations (C.670C>T and C.1064T>C) while HGO sequencing revealed three polymorphisms in exons 4, 5 and 6, respectively. To the best of our knowledge, this is the first reported instance of Pompe disease and alkaptonuria occurring in the same individual. Habbal, M. Z. Bou Assi, T. Mansour, H. 2013-04-29 doi:10.1136/bcr-2012-008491 Alkaptonuria and pompe disease in one patient: metabolic and molecular analysis BMJ Publishing Group Ltd APR29_1 2013 201200849 2013-04-29 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/apr16_1/bcr2013009233?rss=1 Heritable retinoblastoma is associated with a germline mutation in the tumour suppressor gene RBI. The Rb protein (pRb) arises from the RB1 gene, which was the first demonstrated cancer susceptibility gene in humans. 1 Second primary malignancies are recognised complications of retinoblastoma. Furthermore, pRb is implicated in valve remodelling in calcific aortic valve disease. 2 3 We report a family with hereditary retinoblastoma and associated secondary primary malignancies. There are two interesting aspects to this family. The first is the concept of cancer susceptibility genes'; the RBI gene being the first reported in humans. A further feature of note is that two family members also have bicuspid aortic valves. We discuss a potential association between the gene defect responsible for retinoblastoma (with its associated propensity for further malignancies) and accelerated deterioration of the bicuspid aortic valve in the proband carrying this gene defect. Abeyratne, L. R. Kingston, J. E. Onadim, Z. Dubrey, S. W. 2013-04-16 doi:10.1136/bcr-2013-009233 Heritable retinoblastoma and accelerated aortic valve disease BMJ Publishing Group Ltd APR16_1 2013 201300923 2013-04-16 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/apr03_1/bcr2013008989?rss=1 Description A young boy presented to the department of oral medicine and radiology, with a chief complaint of pain and mobility of the lower posterior teeth and difficulty in mastication. Clinical history as revealed by his mother was that he had normal development and eruption of deciduous teeth, but started losing teeth by the age of 3 years. She also noticed that his gingiva would become red, and swollen, and bleed easily, and emit foul smell. After exfoliation, the inflammation subsided and gingiva appeared healthy. But then with the eruption of permanent dentition, the whole process repeated and there was premature exfoliation of the permanent upper first molars. Medical history was non-contributory. Parents did not have a consanguineous marriage. The parents and other family members were not affected. Pregnancy and delivery of the child were normal. General examination revealed thin built, steady gait, no physical or mental developmental impai ... Shah, K. M. karagir, A. Koppikar, R. Adaki, S. 2013-04-03 doi:10.1136/bcr-2013-008989 Papillon Lefevre syndrome BMJ Publishing Group Ltd APR03_1 2013 201300898 2013-04-03 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/mar26_1/bcr2012007846?rss=1 Agenesis of maxillary lateral incisors and mandibular second premolars is the most frequent form of hypodontia. Its prevalence varies across population from 0.8% to 4.5%. Genetic aberrations and environmental factors may cause agenesis of one or more teeth. The management of child having such a problem is very important since diastema in teeth especially in upper anteriors not only affects child's physical appearance but also its psychological development as the child wants to look like other children. In this article is presented a case of non-syndromic agenesis of maxillary lateral incisors (MLIA) and mandibular central incisors in a 10-year-old boy (patient) in permanent dentition with its management along with the radiographic investigations and photographic presentations of the other members of his family affected with this condition. Pandey, P. Ansari, A. A. Choudhary, K. Saxena, A. 2013-03-26 doi:10.1136/bcr-2012-007846 Familial aggregation of maxillary lateral incisor agenesis (MLIA) BMJ Publishing Group Ltd MAR26_1 2013 201200784 2013-03-26 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/mar20_1/bcr2013008826?rss=1 Cystic lung diseases are characterised by multiple intrapulmonary cysts. They can be mimicked by other more common causes of focal parenchymal lucencies such as emphysema, bronchiectasis and honeycombing. The various conditions have differing managements and prognoses, thus correct evaluation is essential. Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant disorder, that is, a rare cause of cystic lung disease. It is seen in approximately 200 families worldwide. This case describes a 37-year-old woman who presented to a District General Hospital with symptoms of pleuritic chest pain and breathlessness. A CT pulmonary angiogram arranged to assess for pulmonary emboli excluded this but it demonstrated multiple intrapulmonary cysts. After further investigation and subsequent genetic testing this was confirmed to be BHD syndrome. Mohan Das, L. Rang, C. E. J. Banka, R. 2013-03-20 doi:10.1136/bcr-2013-008826 Birt-Hogg-Dube syndrome: a rare cause of cystic lung diseases BMJ Publishing Group Ltd MAR20_1 2013 201300882 2013-03-20 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/mar18_1/bcr2012008419?rss=1 Description Treating the patient with amelogenesis imperfecta is important for functional and psychosocial reasons, especially when the child is suffering with the anomaly in its primary as well as permanent teeth as such conditions cause a deep psychological impact at such a young age (figures 1 and 2). Composite resins are aesthetic and easy to manipulate, but can cause staining, microleakage, low abrasion resistance and plaque accumulation, so they are more appropriate to use for anomalies limited with enamel and as provisional restorations. However, porcelain laminate veneers, metal ceramic crowns and all-ceramic crowns are expensive and need extensive tooth preparation. These kinds of restorations also take a long time and are irreversible. Besides, the indirect composite techni ... Goswami, M. Chattopadhyay, S. Arora, R. Talwar, R. 2013-03-18 doi:10.1136/bcr-2012-008419 Complete oral rehabilitation of a young girl suffering with amelogenesis imperfecta in association with analysis of her chromosomal pattern BMJ Publishing Group Ltd MAR18_1 2013 201200841 2013-03-18 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/mar15_1/bcr2012008323?rss=1 A 24-year-old Ugandan woman was referred for a neurology opinion after complaining of a year long history of right-sided retro-orbital stabbing pain. Brain imaging revealed a coincidental 3 mm left ophthalmic artery aneurysm. Marfanoid habitus was noted; after further investigations she was diagnosed with mild aortic root dilatation, subtle lens dislocation and Marfan syndrome. Her symptoms were secondary to temporomandibular joint dysfunction, an under-recognised complication of Marfan syndrome. Her ophthalmic artery aneurysm is likely to be a coincidental finding. Vandersteen, A. M. Kenny, J. Khan, N. L. Male, A. 2013-03-15 doi:10.1136/bcr-2012-008323 Marfan syndrome presenting with headache and coincidental ophthalmic artery aneurysm BMJ Publishing Group Ltd MAR15_1 2013 201200832 2013-03-15 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/feb25_1/bcr2013008684?rss=1 Chromosomal instability is a potentially critical step in the development of colorectal cancer. The budding uninhibited by benzimidazole 1 (BUB1) gene is a highly conserved protein that plays a critical role at the spindle assembly checkpoint during cell division. BUB1 mutations function in a dominant-negative fashion and have been implicated in causing dysfunctional kinetochore attachments, premature chromatid separation, accelerated mis-segregation of whole chromosomes and aneuploidy. BUB1 mutations have been observed in patients with colorectal cancers. We report a remarkable case of BUB1 haploinsufficiency owing to a 1.7 Mb deletion of chromosome 2q13 in a 54-year-old man with no prior history of carcinoma. These mutant alleles were observed in both tissue from the hand and peripheral blood. Aneuploidy was not observed on cytogenetic analysis. These findings highlight the insufficiency of BUB1 haploinsufficiency to directly stimulate tumourigenesis, and suggest that other factors may be more critical to this process. Hoang, D. Sue, G. R. Xu, F. Li, P. Narayan, D. 2013-02-25 doi:10.1136/bcr-2013-008684 Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency BMJ Publishing Group Ltd FEB25_1 2013 201300868 2013-02-25 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/feb25_1/bcr2013008802?rss=1 Hereditary haemorrhagic telangiectasia (HHT) is a rare inherited autosomal-dominant vascular dysplasia involving multiple organs. Brain abscess is an uncommon and potential fatal complication. We report a case of HHT caused by a novel ENG mutation who initially presented as brain abscess. The patient, with a family history of epistaxis, presented with fever, headache and right-sided haemiparesis. Upon examination, brain MRI showed a contrast-enhanced abscess on the left fronto-parietal region. Open brain drainage was performed and pus culture yielded Actinomyces meyeri. The chest image revealed multiple pulmonary arterio-venous fistulas. HHT was diagnosed according to Curacao criteria. Genetic analysis revealed a novel duplication on exon 6 of ENG gene, which segregates with symptomatic subjects in her family. Clinicians should be cautiously aware of HHT as a differential diagnosis if patients presented with an unknown entry source of intracerebral infections. Chen, K.-H. Lin, C.-H. 2013-02-25 doi:10.1136/bcr-2013-008802 Brain abscess as an initial presentation in a patient of hereditary haemorrhagic telangiectasia caused by a novel ENG mutation BMJ Publishing Group Ltd FEB25_1 2013 201300880 2013-02-25 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/feb18_1/bcr2012007272?rss=1 Failure to thrive arises from a heterogeneous group of paediatric disorders including defects in energy metabolism such as mitochondrial diseases. Illustrating this, we describe a girl with poor growth who eluded diagnosis until she developed characteristics of Kearns-Sayre syndrome. Her history emphasises that defects of energy metabolism can present as isolated growth failure. Holloman, C. M. Wolfe, L. A. Gahl, W. A. Boerkoel, C. F. 2013-02-18 doi:10.1136/bcr-2012-007272 Kearns-Sayre syndrome presenting as isolated growth failure BMJ Publishing Group Ltd FEB18_1 2013 201200727 2013-02-18 CASE-REPORT