scholarly journals Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Mihir Kothari ◽  
Florence Manurung ◽  
Bhavesh Mithiya
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Simultaneous Occurrence ◽  
Autosomal Dominant Disorder ◽  
First Case ◽  
Retraction Syndrome ◽  
Congenital Cranial Dysinnervation Disorder ◽  
Duane Retraction Syndrome

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental.

scholarly journals Marfan Syndrome: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Rajendran Ganesh ◽  
Rajendran Vijayakumar ◽  
Haridoss Selvakumar
Keyword(s):  
Stainless Steel ◽  
Case Report ◽  
Connective Tissue ◽  
Blood Vessel ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
The Body ◽  
Tissue Protein ◽  
Fibrillin 1 ◽  
Systemic Disorder

Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Children affected by the Marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin-1. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body. A case report of Marfan syndrome has been reported with oral features. The dental problems of the child were treated under general anesthesia and a one-month review showed intact stainless steel crowns' restorations and no signs of secondary caries.

Manifestações Cardiovasculares em Paciente Portador de Síndrome de Marfan: Relato de Caso / Cardiovascular Manifestations in a Patient With Marfan's Syndrome: Case Report

1970 ◽  
Vol 4 (2) ◽  
pp. 85-95
Author(s):  
Eduardo Tadeu Ramos Almeida ◽  
Fábio Sergio Ferreira Resende Fonseca ◽  
Flávia Sala Pasquinelli
Keyword(s):  
Cardiovascular Disease ◽  
Case Report ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Connective Tissue Disease ◽  
Autosomal Dominant ◽  
Patient Survival ◽  
Delayed Diagnosis ◽  
Common Disease ◽  
Dominant Inheritance

Introdução: A síndrome de Marfan (SMF) é uma doença do tecido conjuntivo, com herança autossômica dominante com incidência de 2-3 para cada 10.000 indivíduos.Casuística: Relataremos um caso de um paciente portador de Síndrome de Marfan que foi diagnosticado em nosso serviço, e que evoluiu com as alterações cardiovasculares mais importantes descritos nessa síndrome, foi devidamente tratado e acompanhado. Conhecendo-se a etiologia de caráter hereditário autossômico dominante, investigamos e descrevemos também achados cardiovasculares em outros membros da família do paciente. Discussão: A Síndrome de Marfan pode afetar vários órgãos, incluindo o esqueleto, olhos, coração e vasos sanguíneos, sendo que os dois últimos são os que possuem maior impacto na sobrevida dos pacientes. As manifestações cardiovasculares incluem a doença valvar e o acometimento da aorta. O prolapso da válvula mitral é a anormalidade mais comum, podendo acometer até 100% dos pacientes. A dilatação da raiz da aorta, apesar de menos frequente pode evoluir para dissecção, representando, portanto, a maior causa de morbimortalidade. Conclusão: A Síndrome de Marfan, apesar de ser a doença do tecido conectivo mais comum, possui um diagnóstico difícil devido a manifestações inespecíficas que podem levar a um subdiagnóstico ou um diagnóstico tardio. Palavras-chave Síndrome de Marfan; Doenças do tecido conjuntivo; Doenças cardiovasculares. Introduction: Marfan syndrome (SMF) and a connective tissue disease with autosomal dominant inheritance with an incidence of 2-3 per 10,000 individuals. Case Report: We report a case of a patient with Marfan syndrome who was diagnosed in our service and evolved with the most important cardiovascular changes described in this syndrome, was properly treated and monitored. Knowing the etiology of autosomal dominant hereditary, we also describe and  investigated cardiovascular findings in other members of the patient's family. Discussion: The Marfan Syndrome can affect various organs, including the skeleton, eyes, heart and blood vessels, and the last two are the ones that have the greatest impact on patient survival. Cardiovascular manifestations include valvular disease and involvement of the aorta. The Mitral valve prolapse and the most common abnormality and may affect up to 100% of patients. The dilation of the aortic root, although less frequently can progress to dissection, representing therefore a major cause of morbidity and mortality. Conclusion: The Marfan syndrome, despite being the most common disease of the connective tissue, has a difficult to diagnose due to nonspecific manifestations that can lead to underdiagnosis or delayed diagnosis. Keywords: Marfan syndrome, connective tissue disease, cardiovascular Disease.

scholarly journals Early-Onset Marfan Syndrome: A Case Series

2018 ◽  
Vol 08 (02) ◽  
pp. 086-090
Author(s):  
Mohanageetha Ardhanari ◽  
Deborah Barbouth ◽  
Sethuraman Swaminathan
Keyword(s):  
Heart Failure ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Case Series ◽  
Autosomal Dominant Disorder ◽  
Fibrillin 1 ◽  
Valvular Insufficiency ◽  
Multisystem Manifestations

AbstractMutations in fibrillin 1 cause Marfan syndrome (MFS), an autosomal dominant disorder of the connective tissue, with multisystem manifestations. In early-onset MFS, the physical characteristics are expressed much earlier than the classical MFS. Those affected by this form generally have their mutations restricted to the gene “hotspot” region of exons 24 to 32. Historically, affected individuals usually die within the first few years of life due to heart failure secondary to severe valvular insufficiency. We report three patients with early-onset MFS, whose clinical evolution has been remarkably positive, when compared with other reported cases in the literature.

scholarly journals A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
Boonchai Boonyawat ◽  
Mongkon Charoenpitakchai ◽  
Piradee Suwanpakdee
Keyword(s):  
Case Report ◽  
Noonan Syndrome ◽  
Fourth Ventricle ◽  
Somatic Mutations ◽  
Autosomal Dominant ◽  
Hematologic Malignancies ◽  
Autosomal Dominant Disorder ◽  
Ptpn11 Mutation ◽  
First Case ◽  
Tumor Types

Noonan syndrome (NS) is an autosomal dominant disorder in some cases caused by PTPN11 mutations. Since somatic mutations in PTPN11 are seen in several tumor types, NS which causes germline PTPN11 mutations are also increase the risk of hematologic malignancies and brain solid tumors. However, the report of brain tumors in Noonan syndrome remains rather rare. Here, we report the first case of an 11-year-old Thai boy with Noonan syndrome who presented with symptoms related to hydrocephalus secondary to subependymoma in the fourth ventricle, and PTPN11 mutation was identified in this patient.

Modified Y Splitting of Lateral Rectus in Treatment of Abnormal Vertical Eye Movements Combined with Globe Retraction in Duane Retraction Syndrome

2020 ◽  
pp. 1-3
Author(s):  
Ayse Gul Kocak Altintas ◽  
Ayse Gul Kocak Altintas
Keyword(s):  
Case Report ◽  
Eye Movements ◽  
Palpebral Fissure ◽  
Ocular Motility ◽  
Severe Restriction ◽  
Horizontal Movement ◽  
Retraction Syndrome ◽  
Duane Retraction Syndrome ◽  
Ocular Motility Disorders

Duane retraction syndrome is the most frequently seen restrictive ocular motility disorders. It is clinically presented with limitation of horizontal movement, variable amounts of upshoots or downshoots and globe retraction combined with narrowing of the palpebral aperture on attempted adduction. An 8-year-old patient presented with severe restriction of abduction, reciprocal upshots or downshoots, and globe retraction combined with the palpebral fissure narrowing of on adduction. After the modified Y splitting of LR and recession of both horizontal rectus operation, all cosmetically disfiguring clinical features disappeared. In this case report modified Y splitting procedure and its long-term efficacy is presented.

scholarly journals A Case Report of Marfan Syndrome with Literature Review

2015 ◽  
Vol 4 (4) ◽  
pp. 269
Author(s):  
Hemanth Kumar Kalla ◽  
Swarna Kumari ◽  
CH Rama rao ◽  
MKR Parthasarathy ◽  
S Surya prakash Reddy ◽  
...  
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Clinical Signs ◽  
Connective Tissue Disorder ◽  
Multiple Organ ◽  
Review Of The Literature ◽  
Organ Systems ◽  
Loin Pain ◽  
Routine Physical Examination

Marfan syndrome(MFS) is a connective tissue disorder that affects multiple organ systems. Cardiovascular, ocular, and skeletal abnormalities are cardinal features of the syndrome. Its incidence is among the highest of any heritable disorder.Most patients who have Marfan syndrome are usually diagnosed incidentally when they present for a routine physical examination for various reasons. The purpose of this paper is to provide a review of the literature, as well as describe a 22-year-old male with MFS and right hydroureteronephrosis diagnosed incidentally when he attended our hospital for complaints of fever and right loin pain. This case report emphasizes importance of “Revised Ghent criteria” for the diagnosis of MFS and highlights various clinical signs of MFS<strong>.</strong>

scholarly journals Familial Hypocalciuric Hypercalcaemia (FHH): A Case Report

2018 ◽  
Vol 3 (09) ◽  
Author(s):  
Tivya Kulasegaran ◽  
Pranav Kumar
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Parathyroid Hormone ◽  
Autosomal Dominant ◽  
Genetic Test ◽  
Calcium Sensor ◽  
Clearance Ratio ◽  
Autosomal Dominant Disorder ◽  
Casr Gene ◽  
Inactivating Mutation

Familial hypocalciuric hypercalcaemia (FHH) is a rare genetic autosomal dominant disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases. Inactivation of Ca-sensing receptors (CaSR) can also lead to hypercalcemia associated with increased parathyroid hormone (PTH) secretion.[1] It is characterised by causes mild asymptomatic hypercalcemia[2] and hypocalciuria with normal or elevated PTH. FHH is generally asymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PHPT) is crucial and based on calcium-creatinine clearance ratio (CCCR), which, when under 0.02 points to the diagnosis of FHH.[3] Genetic test is necessary for confirmation.[4]

scholarly journals Marfan Syndrome with Atypical Presentation: A Case Report

2014 ◽  
Vol 4 (2) ◽  
pp. 111-114
Author(s):  
Sharmin Mahbuba ◽  
Fauzia Mohsin ◽  
Rubaiya Islam ◽  
Tahmina Begum
Keyword(s):  
Case Report ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Connective Tissue Disorder ◽  
Atypical Presentation ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Excessive Sweating ◽  
Molecular Cytogenetic ◽  
Molecular Cytogenetic Techniques

Marfan syndrome is an inherited connective tissue disorder that is transmitted as an autosomal dominant trait. These cases can be diagnosed by molecular cytogenetic techniques. A modified Ghent criteria using systemic scoring system can also identify these cases in absence of molecular cytogenetic techniques.We report a case of a 6 year 5 month old boy who presented with the complaints of excessive sweating sinceinfancy and protrusion of both eye balls which was non progressive since early childhood. On examination, some skeletal features of Marfan syndrome was found and echocardiogram showed huge dilatation of root of aorta which helped in diagnosis by scoring system.Birdem Med J 2014; 4(2): 111-114

Hemicrania Continua with Contralateral Episodic Cluster Headache: A Case Report

Cephalalgia ◽  
2003 ◽  
Vol 23 (9) ◽  
pp. 929-930 ◽  
Author(s):  
C Lisotto ◽  
F Mainardi ◽  
F Maggioni ◽  
G Zanchin
Keyword(s):  
Case Report ◽  
Cluster Headache ◽  
Hemicrania Continua ◽  
Paroxysmal Hemicrania ◽  
Simultaneous Occurrence ◽  
Headache Disorders ◽  
Sunct Syndrome ◽  
First Case ◽  
Episodic Cluster Headache ◽  
Male Patients

The trigeminal autonomic cephalgias (TACs) are characterized by short-lasting unilateral headaches with autonomic features (1). They include four headache disorders, cluster headache (CH), paroxysmal hemicrania (PH), SUNCT syndrome and hemicrania continua (HC). The coexistence of different ipsilateral TACs in the same patient has been previously reported in six published cases (2-6). In five of these patients an association of CH and PH was noted (2-5). The two varieties of attacks occurred separately in three patients, while their simultaneous occurrence was observed in two cases. In another patient the successive occurrence of trigeminal neuralgia, SUNCT syndrome, PH and CH in one active headache period was noted (6). All the reported cases concerned male patients. We describe what we believe to be the first case of coexistence of two different contralateral TACs.

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