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Paper 4
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
All of the options provided are possible causes of pectus excavatum. The imaging features described are consistent with underlying diagnosis of Marfan syndrome, which is a connective tissue disorder. Skeletal features in this condition include posterior vertebral body scalloping due to dural ectasia, scoliosis, spondylolisthesis, acetabular protrusion and arachnodactyly. Cardiac complications in this condition include aortic root dilatation, mitral valve regurgitation and aortic dissection. Cardiac disease is the cause of death in 90% of patients. Homocystinuria is rare. Patients can have Marfanoid features, and mortality in these patients is also mostly due to cardiovascular complications. Screening for this condition is performed in the neonate with the heel-prick test. Patients often have developmental delay.
Endocrine and reproductive disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Multiple endocrine neoplasia comprises two major types, both usually inherited as autosomal dominant disorders: Type 1 (MEN 1): Parathyroid, anterior pituitary and pancreatic endocrine tumours are the most frequent.Type 2 (MEN 2): Medullary carcinoma of the thyroid may occur alone or coexist with phaeochromocytoma and with mucosal neuromas (type 2B). Some patients may be ‘Marfanoid’ in appearance. The gene responsible is the RET oncogene, with a small number of specific mutations responsible for most cases of both 2A and 2B types.
The Maternal Autopsy
Published in Julian L Burton, Guy Rutty, The Hospital Autopsy, 2010
Dissecting aortic aneurysm was the cause of death in 19 pregnancies in the last two triennial reports and has been one of the major causes of ‘indirect’ cardiac death. Frequently there was a history of crushing chest pain, and this may have been investigated as suspected pulmonary thromboembolus some days before the final collapse but without a definitive diagnosis. The autopsies often provided evidence that dissection had started some days earlier as there was organising blood clot within the wall of the aorta on histology. Not all patients have Marfanoid features, though the presence or absence of these should be noted in the external description of the body. In the last triennial report (Nelson-Piercy, 2007) there were eight aortic dissections: only two had Marfanoid features, although a third death had a family history of aortic dissection. Two other women were morbidly obese. Approximately three-quarters of patients fulfilling the Ghent diagnostic criteria for Marfan’s syndrome have a mutation in the fibrillin-1 gene, and this can be identified in post-mortem tissues if appropriate samples are submitted for analysis (Halliday et al., 2002).
Pupillary manifestations of Marfan syndrome: from the Marfan eye consortium of Chicago
Published in Ophthalmic Genetics, 2018
Sanket S. Shah, Sudhi P. Kurup, Hantamalala Ralay Ranaivo, Rebecca B. Mets-Halgrimson, Marilyn B. Mets
This study was approved by the Institutional Review Board of Ann & Robert H. Lurie Children’s Hospital of Chicago (Lurie Children’s) and conformed to the requirements of the United States Health Insurance Portability and Privacy Act with adherence to the tenets of the Declaration of Helsinki. Patients with MFS were recruited by the Marfan Eye Consortium of Chicago during the National Marfan Foundation’s annual conference. Controls were consented in the Ophthalmology Clinic of Lurie Children’s, a tertiary care facility. Pediatric age- and gender-matched control data were obtained in a prospective manner from “normal” patients (i.e. patients without pathology anticipated to affect pupillary function) who were being evaluated at the Ophthalmology Clinic of Lurie Children’s, while adult control data were obtained from volunteers. Exclusion criteria for controls included: inability to sit for testing, developmental delay, genetic syndromes, neurologic pathology (including intracranial masses), or intraocular pathology that would affect pupillary function (e.g. uveitis, cataracts, diabetes, glaucoma, and optic nerve dysfunction). Those who had Marfanoid syndromes but did not have a definitive diagnosis of MFS were also excluded. Pupillometry data were measured using the handheld NeurOptics PLR-200™ Pupillometer (NeurOptics, Irvine, CA, USA). Fifty seven eyes from 29 patients (18 children and 11 adults) who have MFS were examined. Thirty six eyes from 18 pediatric age- and gender-matched controls were analyzed against MFS patients at a 1:1 ratio. Among the 37 adult controls who volunteered, 44 eyes from 22 age-matched adults were included for analysis against MFS patients at a 2:1 ratio. Dynamic pupillary measurements were obtained in scotopic conditions including: maximum diameter, minimum diameter, constriction percentage, latency, maximum constriction velocity, average constriction velocity, dilation velocity, and 75% recovery time.
Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features
Published in Ophthalmic Genetics, 2018
Elke O. Kreps, Isabelle Van Herzeele, Bert L. Callewaert
A 31-year-old male was referred to the emergency department for a painful, pulsatile mass in the left jugular area. His medical history was noticeable for congenital alacrima, resection of conjunctival neuromas at age 16, and recurrent conjunctival irritation over the last 2 years. Clinical examination revealed a marfanoid habitus initiating further work-up.