scholarly journals Congenital Nasolacrimal Duct Cyst/Dacryocystocele: An Argument for a Genetic Basis

2012 ◽  
Vol 3 (1) ◽  
pp. ar.2012.3.0024 ◽  
Author(s):  
Henry P. Barham ◽  
Justin M. Wudel ◽  
Robert W. Enzenauer ◽  
Kenny H. Chan
Keyword(s):  
Case Report ◽  
Preterm Labor ◽  
Genetic Basis ◽  
Monozygotic Twins ◽  
Nasolacrimal Duct ◽  
Duct Cyst ◽  
Common Presentation ◽  
Inferior Meatus ◽  
Cystic Masses

Embryogenesis of a congenital nasolacrimal duct (NLD) cyst is attributed to the failure of the Hasner membrane of the NLD system to cannulate. Prenatal diagnosis of congenital NLD cysts supports the argument for a developmental error, with a postnatal prevalence of 6%. The role of a genetic basis for this malformation has never been ascribed. We present a set of monozygotic twins with bilateral congenital NLD cysts as an argument for a genetic basis of this entity. A case report and literature review were performed. We present two cases of bilateral congenital NLD cysts occurring in a set of monozygotic twins. Patients were delivered at 37 weeks via cesarean section. The pregnancy was complicated by preterm labor at 33 weeks requiring administration of terbutaline and betamethasone. At presentation, twin A had bilateral eye discharge, erythema, and swelling medial to the medial canthi as well as nasal obstruction. Computed tomography (CT) showed classic bilateral cystic masses in the inferior meatus. The diagnosis of bilateral infected congenital dacryocystoceles was made. Twin B initially presented with only bilateral eye discharge and CT showed a dilated NLD system. Twin B subsequently developed early signs of bilateral dacryocystoceles the following day. Both patients underwent lacrimal probing and endoscopic marsupialization of the dacryocystoceles. Biopsies were consistent with dacryocystocele. Dacryocystocele is a common presentation of unresolved neonatal NLD obstruction. This case report in a set of identical twins is an argument for a genetic basis for the formation of this lesion.

scholarly journals Intraoral Foregut Cystic Developmental Malformations: Three cases with a brief review of literature

2019 ◽  
Vol 19 (3) ◽  
pp. 257
Author(s):  
Arti Khatri ◽  
Lavleen Singh ◽  
Neha Jain ◽  
Mamta Sengar ◽  
Abhijit Das
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Surgical Excision ◽  
Cystic Mass ◽  
New Delhi ◽  
Duct Cyst ◽  
Feeding Difficulties ◽  
Clinical Differential Diagnosis ◽  
Cystic Masses ◽  
Developmental Malformations

Foregut cystic developmental malformations (FCDM) are a type of rare cystic lesion. The occurrence of FCDM is exceedingly uncommon in the intraoral location. We report three cases of FCDM with intraoral location who presented at Chacha Nehru Bal Chikitsalaya, New Delhi, India, in 2016, 2017 and 2018 with symptoms of respiratory distress and feeding difficulties. Two patients were male and one was female with an age range of 29 days to eight years. The clinical differential diagnosis included mucocele, ranula, dermoid, lymphangioma, teratoma, thyroglossal duct cyst, etc. All patients were treated with simple surgical excision and diagnosed, based on histopathology, with FCDM. These should be considered as differential diagnosis of head and neck midline cystic mass lesions. This case report aimed to discuss differential diagnosis and appropriate terminology for these cystic masses as there is varied and ambiguous nomenclature.Keywords: Bronchogenic Cyst; Cyst; Congenital Abnormalities; Oral Cavity; Case Report; India.

DEFICIENCY OF LRBA: BIBLIOGRAPHICAL REVIEW AND CASE REPORT

2021 ◽  
Vol 100 (2) ◽  
pp. 192-203
Author(s):  
I.V. Kondratenko ◽  
◽  
S.S. Vakhlayrskaya ◽  
D.V. Rogozhin ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Basis ◽  
Clinical Manifestations ◽  
Main Role ◽  
Principles Of Treatment ◽  
The Subject ◽  
Next Generation Sequencing Ngs ◽  
Lrba Deficiency ◽  
Generation Sequencing

Since the description of the first primary immunodeficiencies (PIDs) in the 50–60s of the last century, they have been the subject of intensive research aimed at elucidating their etiology and finding effective treatments. The development of next-generation sequencing (NGS) methods made it possible to reveal the genetic basis of many new forms of PID, which were previously attributed to various syndromes due to their clinical and immunological characteristics. An example of such a PID is the LRBA (the lipopolysaccharide-responsive and beige-like anchor protein) deficiency, sometimes called LATAIE [LRBA deficiency with autoantibodies, regulatory T (Treg) cell defects, autoimmune infiltration, and enteropathy]. The article provides information on the main role of the LRBA molecule in the functions of immunocompetent cells, describes immunological disorders and clinical manifestations of LRBA deficiency and the principles of treatment of diseases. Two own observations of LRBA deficiency are presented.

Late-Onset Folie Simultanée in a Pair of Monozygotic Twins

1986 ◽  
Vol 148 (4) ◽  
pp. 463-465 ◽  
Author(s):  
Kenneth S. Kendler ◽  
Gillian Robinson ◽  
Mary McGuire ◽  
Mary P. Spellman
Keyword(s):  
Case Report ◽  
Psychiatric Illness ◽  
Potential Role ◽  
Late Onset ◽  
Monozygotic Twins

A case-report is presented of folie simultanée in a pair of female monozygotic twins with onset at the remarkable age of 81. The twins demonstrated no evidence of dementia or other psychopathology apart from delusions. Folie simultanée in monozygotic twins provides a model example of the potential role of genotype-environment correlation in the etiology of psychiatric illness.

scholarly journals Monozygotic twins with Crohn’s disease and ulcerative colitis: a unique case report

Gut ◽  
1997 ◽  
Vol 41 (4) ◽  
pp. 557-560 ◽  
Author(s):  
N P Breslin ◽  
A Todd ◽  
C Kilgallen ◽  
C O’Morain
Keyword(s):  
Inflammatory Bowel Disease ◽  
Crohn’S Disease ◽  
Case Report ◽  
Crohn's Disease ◽  
Bowel Disease ◽  
Monozygotic Twins ◽  
Antineutrophil Cytoplasmic Antibody ◽  
Environmental Agents ◽  
Inflammatory Bowel

Background—A large number of monozygotic and dizygotic twin pairs with inflammatory bowel disease have been reported. To date no twin pair has developed phenotypically discordant inflammatory bowel disease. This case report is the first documented occurrence of discordant inflammatory bowel disease occurring in monozygotic twins.Case report—Twenty two year old identical male twins presented within three months of each other with inflammatory bowel disease that proved to be discordant in overall disease type, disease distribution, clinical course, and histopathological findings. Twin 1 developed a severe pancolitis necessitating total colectomy while twin 2 developed a predominantly distal patchy colitis with frequent granulomas, controlled by aminosalicylates. Twin 1 was antineutrophil cytoplasmic antibody (ANCA) negative at the time of testing while twin 2 (Crohn’s disease) was ANCA positive. Significantly, the twins possessed the HLA type DR3-DR52-DQ2 previously associated with extensive colitis.Conclusion—This case report confirms the important role played by genetic factors in the development of inflammatory bowel disease. It also highlights the crucial role of undetermined environmental agents in dictating disease expression and phenotype.

Transsexualism in Female Monozygotic Twins: A Case Report

2000 ◽  
Vol 34 (5) ◽  
pp. 862-864 ◽  
Author(s):  
Majid Sadeghi ◽  
Ali Fakhrai
Keyword(s):  
Early Childhood ◽  
Case Report ◽  
Psychiatric Disorder ◽  
Gender Identity Disorder ◽  
Genetic Basis ◽  
Monozygotic Twins ◽  
Sex Reassignment ◽  
Mental Functioning ◽  
Lost To Follow Up

Objective: A case report is presented of a gender identity disorder involving a pair of female monozygotic twins who requested sex reassignment. As far as we know, this case is the first in psychiatric literature and supports a genetic aetiology of this disorder. Clinical picture: The patients were two 18-year-old female monozygotic twins who had showed symptoms of transsexualism since early childhood. They had no other physical or psychiatric disorder except borderline mental functioning. Treatment: The patients were referred for sex reassignment. Outcome: They were lost to follow up after initial evaluation. Conclusion: In addition to other possible (yet not confirmed) causes of trans-sexualism, a genetic basis for this disorder is suggested by this case.

scholarly journals Role of Ultrasound in Diagnosis of Fetus Acardius Acephalus in Multiple Pregnancies

2018 ◽  
Vol 4 (02) ◽  
pp. 085-087
Author(s):  
Ruby Yadav ◽  
Nishi Choudhary
Keyword(s):  
Heart Failure ◽  
Case Report ◽  
Gestational Age ◽  
Preterm Labor ◽  
Perinatal Outcomes ◽  
Therapeutic Interventions ◽  
Multiple Pregnancies ◽  
Triplet Pregnancy ◽  
Gestational Age At Delivery

AbstractThis case report describes an acardiac fetus of the acephalus phenotype in a triplet pregnancy. The diagnosis was confirmed at 13 weeks. In the absence of signs of heart failure in the co-fetus, the pregnancy was managed conservatively. The pregnancy was complicated by preterm labor and the fetuses were delivered at 23 + 4 weeks. Also, the perinatal outcomes of triplet pregnancies complicated by an acardiac fetus, where the median gestational age at delivery is 23 to 24 weeks, are summarized, and the possible therapeutic interventions have been discussed.

Antenatal diagnosis of a congenital nasolacrimal duct cyst by ultrasonography: A case report

1994 ◽  
Vol 14 (7) ◽  
pp. 623-626 ◽  
Author(s):  
Cuneyt M. Alper ◽  
Kenny H. Chan ◽  
Lyndon M. Hill ◽  
Paula Chenevey
Keyword(s):  
Case Report ◽  
Antenatal Diagnosis ◽  
Nasolacrimal Duct ◽  
Duct Cyst

scholarly journals Treatment of congenital nasolacrimal duct cyst: the role of endoscopic marsupialisation

2020 ◽  
Vol 40 (5) ◽  
pp. 377-382
Author(s):  
Vittorio Rampinelli ◽  
Marco Ferrari ◽  
Silvia Zorzi ◽  
Marco Berlucchi
Keyword(s):  
Nasolacrimal Duct ◽  
Duct Cyst

The Role of Navigation and Ultrasound Piezosurgery in the Surgical Treatment of Hypertelorism: A Case Report

2014 ◽  
Vol 75 (S 02) ◽  
Author(s):  
S. Heredero ◽  
J. Solivera ◽  
A. Romance ◽  
A. Dean ◽  
J. Lozano
Keyword(s):  
Case Report ◽  
Surgical Treatment
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