scholarly journals Cyclopia: A Rare Condition with Unusual Presentation - A Case Report

2015 ◽  
Vol 9 ◽  
pp. CMPed.S21107
Author(s):  
Ghassan S.A. Salama ◽  
Mahmoud A.F. Kaabneh ◽  
Mohamed K. Al-Raqad ◽  
Ibrahim M.H. Al-Abdallah ◽  
Ayoub Ga Shakkoury ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnancy Termination ◽  
Brain Mri ◽  
External Genitalia ◽  
Rare Condition ◽  
Renal Dysplasia ◽  
Military Hospital ◽  
Single Orbit ◽  
History Of ◽  
Term Baby

Introduction Cyclopia (alobar holoprosencephaly) (OMIM% 236100) is a rare and lethal complex human malformation, resulting from incomplete cleavage of prosencephalon into right and left hemispheres occurring between the 18th and the 28th day of gestation. Holoprosencephaly occurs in 1/16,000 live births, and 1/250 during embryogenesis. Approximately 1.05 in 100,000 births are identified as infants with cyclopia, including stillbirths. Cyclopia typically presents with a median single eye or a partially divided eye in a single orbit, absent nose, and a proboscis above the eye. Extracranial malformations described in stillbirths with cyclopia include polydactyl, renal dysplasia, and an omphalocele. The etiology of this rare syndrome, which is incompatible with life, is still largely unknown. Most cases are sporadic. Heterogeneous risk factors have been implicated as possible causes. Case Presentation A live full-term baby with birth weight of 2900 g, product of cesarean section because of severe fetal bradycardia, was born at Prince Hashem Military Hospital – Zarqa city/Jordan. This newborn was the first baby to a non-consanguineous family, and a healthy 18-year-old mother, with no history of drug ingestion or febrile illnesses during pregnancy. Antenatal history revealed severe hydrocephalus diagnosed early by intrauterine ultrasound but the pregnancy was not terminated because of the lack of medical legitimization in the country. On examination, the newborn was found to have a dysmorphic face, with a median single eye, absence of nose, micrognathia, and a proboscis above the eye, all of which made cyclopia the possible initial diagnosis. Multiple unusual abdominal defects were present that include a huge omphalocele containing whole liver and spleen, urinary bladder extrophy, and undefined abnormal external genitalia, which called for urgent confirmation. Brain MRI was done and revealed findings consistent with alobar holoprosencephaly (cyclopia). Conclusion Presentation of cyclopia is not fully exposed and new cyclopian syndromes still can appear. The prenatal diagnosis of cyclopia can be made early by ultrasound, and the awareness of the spectrum of sonographic findings of cyclopia can improve the accuracy of prenatal diagnosis. The legitimization of pregnancy termination for indexed cases in many countries around the world should be revised.

scholarly journals Prenatal Diagnosis in France: Between Regulation of Practices and Professional Autonomy

2019 ◽  
Vol 63 (2) ◽  
pp. 209-229 ◽  
Author(s):  
Isabelle Ville
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnancy Termination ◽  
Local Level ◽  
National Level ◽  
Professional Autonomy ◽  
Ethnographic Fieldwork ◽  
Official Policy ◽  
History Of ◽  
Decision Making Processes ◽  
Scientific Framework

Prenatal diagnosis (PND) was introduced in France in the 1970s on the initiative of medical researchers and clinicians. For many years the regulation of practices was self-imposed, decentralised and idiosyncratic. The advent of ‘therapeutic modernity’ in the 1990s gave rise to an ethical, legal and scientific framework designed to homogenise PND at a national level, with the creation of multidisciplinary centres (CPDPN) and theAgence de la biomédecine. This article first recovers the history of PND in France. It then compares the activities of two CPDPNs, using ethnographic fieldwork and by analysing national quantitative data compiled by theAgence. It argues that the official policy of nationally homogeneous practices is not born out in practice, at the local level. This lack of homogeneity is most apparent in the number of authorisations for pregnancy termination due to foetal malformation, which varies considerably from one centre to another. Rooted in local culture, this variation relates to organisational methods, decision-making processes and variable levels of tolerance towards the risk of disability. Foetal medicine practitioners, thus, maintain a certain amount of autonomy that is collective rather than individual and that is reflected in the particular ‘identity’ of a given centre.

scholarly journals Secondary infertility due to intrauterine fetal bone retention: A case report and review of the literature

2019 ◽  
Author(s):  
Atossa Mahdavi ◽  
Sasan Kazemian ◽  
Emad Koohestani
Keyword(s):  
Pregnancy Termination ◽  
Semen Analysis ◽  
Uterine Cavity ◽  
Rare Condition ◽  
Contraceptive Device ◽  
Secondary Infertility ◽  
Fetal Bone ◽  
Intrauterine Contraceptive ◽  
Bone Fragments ◽  
Term Baby

Background: Intrauterine retention of fetal bone fragments is a rare condition that could happen after abortion (especially illegal abortion). It can cause secondary infertility as bon fragments can work as an intrauterine contraceptive device. Case: A 25-year-old Iranian woman was referred to Shariati Hospital due to infertility. During infertility work up to normal semen analysis, adequate ovarian reserve with regular ovulatory cycles was documented. An ultrasound scan revealed focal echogenic shadowing lesions inside the uterine cavity. Hysteroscopy was conducted and many intrauterine bone fragments were revealed. Six months after hysteroscopic removal of fetal bones, the patient became pregnant and delivered a healthy and term baby. Conclusion: Intrauterine fetal bone retention is a scarce event that happens after pregnancy termination due to the incomplete evacuation of fetal tissues. It can cause dysfunctional uterine bleeding, menorrhagia, dysmenorrhea, pelvic pain, abnormal vaginal discharge, and secondary infertility. The detection of the problem and the removal of the remained bones by hysteroscopy have made possible to treat the patient safely and restore normal uterine function and female fertility.

scholarly journals A 46, XX / 46, XY mosaicism or chimerism diagnosed by Karyotyping

2018 ◽  
Vol 6 (2) ◽  
pp. 111-113
Author(s):  
Mansura Khan ◽  
Mohammad Moniruzzaman ◽  
Fauzia Mohsin ◽  
Ashesh K Chowdhury
Keyword(s):  
Early Childhood ◽  
Undescended Testis ◽  
Genetic Diseases ◽  
External Genitalia ◽  
Rare Condition ◽  
Ambiguous Genitalia ◽  
Chief Complaint ◽  
Penile Length ◽  
Aged Child ◽  
History Of

The presence of both 46, XX and 46, XY cell lines in a person is a very rare condition which is known as either chimerism or mosaicism. These conditions usually determined in early childhood during investigation of ambiguous genitalia. Our case is probably the first such report case in our country. Our case was ten months aged child, born to non-consanguinous couple referred to Cytogenetics unit of Immunology Department of BIRDEM General Hospital for chromosomal analysis and Karyotyping with the chief complaint of right sided undescended testis. He was normal looking and playful, presenting complaint was small penis with abnormal urethral opening and absence of one testis since birth. His developmental milestones were normal and intelligence was average. There was no history of congenital and genetic diseases in their family. On examination of the external genitalia the following features were noticed: stretched penile length (SPL) 3.5 cm with penoscrotal hypospadiasis. Right sided testis was not palpable as undescended and left sided testis was palpable in scrotum , volume of which was 2 to 3 ml.Bangladesh Crit Care J September 2018; 6(2): 111-113

Device Closure of Ventricular Septal Defect with Amplatzer Muscular Occluder: A Case Report

1970 ◽  
Vol 25 (3) ◽  
pp. 161-163
Author(s):  
Nurun Nahar Fatema ◽  
Mamunur Rahman ◽  
Mujubul Haque
Keyword(s):  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Failure To Thrive ◽  
Military Hospital ◽  
Device Closure ◽  
Residual Shunt ◽  
Muscular Ventricular Septal Defect ◽  
Cardiac Centre ◽  
History Of ◽  
Observation Period

A four year old girl was diagnosed as a case of mid muscular Ventricular Septal Defect (VSD) since early infancy. She had history of failure to thrive (FTT) and recurrent chest infection or pneumonia. As her pulmonary artery pressure was almost normal she was planned for device closure on elective basis once device and technology would be available in cardiac centre of combined Military Hospital (CMH) Dhaka. Finally it was done on 21st August 2005 and patient was discharged after 72 hours observation period. Echocardiography on next morning showed complete occlusion of defect with no residual shunt. (J Bangladesh Coll Phys Surg 2007; 25 : 161-163)

scholarly journals Rare Etiology of Odynophagia in a Female Adolescent

2021 ◽  
pp. 352-358
Author(s):  
Anastasios Koutsoumourakis ◽  
Asterios Gagalis ◽  
Maria Fotoulaki ◽  
Maria Stafylidou
Keyword(s):  
Antiviral Treatment ◽  
Healing Process ◽  
Rare Condition ◽  
Female Adolescent ◽  
Mucosal Barrier ◽  
Esophageal Mucosa ◽  
Intact Immune System ◽  
History Of ◽  
Orolabial Herpes

Herpes esophagitis (HE) is a rare condition in immunocompetent adolescents. However, it commonly occurs as a primary infection in younger individuals. Herein, we report a 16-year-old female patient who had a history of fever for 5 days, odynophagia, and orolabial herpes infection for 7 days. Clusters of painful vesicles on an erythematous base on the lips, gingiva, and palate were observed on physical examination. Further, esophagogastroduodenoscopy revealed diffuse linear ulcerations in the distal esophagus. The patient then received the following treatment: intravenous (I.V.) acyclovir 5 mg/kg three times a day, I.V. omeprazole 40 mg two times a day, and acyclovir 5% cream four times a day. After 8 days of admission, the patient was discharged. A follow-up esophagogastroduodenoscopy was performed 7 weeks after discharge, and the results revealed that the esophageal mucosa had a normal appearance. The effect of antiviral treatment against HE remains unknown in these patients. Nevertheless, it is believed to accelerate the healing process in individuals with esophageal mucosal barrier damage. To the best of our knowledge, this case of a female adolescent with an intact immune system is the sixth case of herpes simplex esophagitis to be reported in the literature.

Intraorbital Abscess: A Rare Cause of Orbit Compression

FACE ◽  
2021 ◽  
pp. 273250162110050
Author(s):  
Samuel Ruiz ◽  
Rizal Lim
Keyword(s):  
Pediatric Population ◽  
Rare Complication ◽  
Disease Process ◽  
Rare Condition ◽  
External Drainage ◽  
Direct Extension ◽  
Life Threatening ◽  
History Of ◽  
High Index Of Suspicion ◽  
Prompt Diagnosis

Introduction: Intraorbital abscess is a rare complication of rhinosinusitis that affects most commonly the pediatric population. It is thought to be caused by direct extension or venous spread of infections from contiguous sites and can lead to life-threatening complications, like permanent visual loss and cerebral abscesses. Objectives: Intraorbital abscess is a rare condition that requires prompt diagnosis and treatment to avoid serious complications. Our objectives are to provide an overview of this rare disease process and its management including our successful treatment experience. Case Description: We present a 2 case report of a 13-year-old pediatric male and a 66-year-old male with history of chronic sinusitis who presented with a right intraorbital abscess successfully treated with external drainage with decompression of the orbit. Conclusion: When intraorbital abscess is encountered, a high index of suspicion is needed to allow prompt and accurate diagnosis for this infrequent condition. Timely surgical drainage of the abscess is needed to prevent the development of fatal complications.

scholarly journals Prenatal diagnosis of a lethal defect: What next? History of first family in perinatal hospice

2021 ◽  
pp. 1-2
Author(s):  
Aleksandra Korzeniewska-Eksterowicz ◽  
Joanna Kozinska ◽  
Konrad Kozinski ◽  
Urszula Dryja
Keyword(s):  
Prenatal Diagnosis ◽  
History Of ◽  
Perinatal Hospice

scholarly journals Bilateral Congenital Humeroradial Synostostis Presenting with Bilateral Proximal Radius Fractures: A Case Report

2021 ◽  
pp. 29-32
Author(s):  
Elsiddig E. Mahmoud
Keyword(s):  
Case Report ◽  
Elbow Joint ◽  
Parental Education ◽  
Functional Disability ◽  
Congenital Abnormalities ◽  
Rare Condition ◽  
Radius Fractures ◽  
Proximal Radius ◽  
History Of ◽  
Uncommon Condition

Congenital bilateral humeroradial synostosis (HRS) is a rare condition. It is generally divided into 2 categories. In the first group, which is mainly sporadic, additional upper limb hypoplasia typically coexists. In the second group, which is classically familial, HRS is commonly an isolated upper extremity anomaly. HRS can lead to variable degrees of functional disability. The clinical case reported here illustrates a possibly avoidable presentation of this uncommon condition. In this case report, we present a 6-week-old male who presented with bilateral radius fractures. Radiography revealed congenital HRS at both elbows. No other associated congenital abnormalities were detected, and there was no family history of similar conditions in any first-degree relatives. In cases of congenital HRS, movement at the elbow joint is not possible. Parents who are unaware of this information might try to straighten their infant’s elbows, which in turn may result in fractures of the proximal radius. Hence, early diagnosis and proper parental education could prevent fractures as a sequela of HRS.

scholarly journals To Give or Not to Give: RhD Immunoglobulin for an RHD*39 Pregnant Woman with Sickle Cell Disease

2021 ◽  
pp. 1-5
Author(s):  
Justin E. Juskewitch ◽  
Craig D. Tauscher ◽  
Sheila K. Moldenhauer ◽  
Jennifer E. Schieber ◽  
Eapen K. Jacob ◽  
...  
Keyword(s):  
Pregnant Woman ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Pregnancy Termination ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
Childbearing Age ◽  
Procedural Complications ◽  
History Of ◽  
Chronic Hemolysis

Introduction: Patients with sickle cell disease (SCD) have repeated episodes of red blood cell (RBC) sickling and microvascular occlusion that manifest as pain crises, acute chest syndrome, and chronic hemolysis. These clinical sequelae usually increase during pregnancy. Given the racial distribution of SCD, patients with SCD are also more likely to have rarer RBC antigen genotypes than RBC donor populations. We present the management and clinical outcome of a 21-year-old pregnant woman with SCD and an RHD*39 (RhD[S103P], G-negative) variant. Case Presentation: Ms. S is B positive with a reported history of anti-D, anti-C, and anti-E alloantibodies (anti-G testing unknown). Genetic testing revealed both an RHD*39 and homozygous partial RHCE*ceVS.02 genotype. Absorption/elution testing confirmed the presence of anti-G, anti-C, and anti-E alloantibodies but could not definitively determine the presence/absence of an anti-D alloantibody. Ms. S desired to undergo elective pregnancy termination and the need for postprocedural RhD immunoglobulin (RhIG) was posed. Given that only the G antigen site is changed in an RHD*39 genotype and the potential risk of RhIG triggering a hyperhemolytic episode in an SCD patient, RhIG was not administered. There were no procedural complications. Follow-up testing at 10 weeks showed no increase in RBC alloantibody strength. Discussion/Conclusion: Ms. S represents a rare RHD*39 and partial RHCE*ceVS.02 genotype which did not further alloimmunize in the absence of RhIG administration. Her case also highlights the importance of routine anti-G alloantibody testing in women of childbearing age with apparent anti-D and anti-C alloantibodies.

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