scholarly journals A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound

1999 ◽  
Vol 22 (2) ◽  
pp. 147-150 ◽  
Author(s):  
Thomaz Rafael Gollop ◽  
Ivan Salzo
Keyword(s):  
Lower Limb ◽  
Epoxide Hydrolase ◽  
Chorionic Villus ◽  
Clinical Signs ◽  
Sampling Procedure ◽  
Chorionic Villus Sampling ◽  
Ultrasound Scan ◽  
Pectus Carinatum ◽  
Detoxifying Enzyme ◽  
The Right

Fetal hydantoin syndrome (FHS) is a set of disruptions occasionally present in fetuses exposed in utero to phenytoin or other anticonvulsants. Administration of phenytoin in early pregnancy may impair proper psychomotor performance expected for children's development. Several combined phenotypic markers delineate the syndrome, but the presence of single clinical signs is more common. There is controversy about the etiology of FHS. Associated disruptions may be related to a deficiency in a detoxifying enzyme (epoxide hydrolase), vascular problems, and/or factors not yet known. Genetic causes are believed to influence susceptibility to the drug. This text reports an unusual pattern of malformations detected in an ultrasound scan (gastroschisis, sacral meningomyelocele, and absence of the right lower limb) and in the anatomopathological study (left-side gastroschisis, sacral meningomyelocele, scoliosis, left clubfoot, absence of the right lower limb, and pectus carinatum) of a fetus whose mother took phenytoin. These defects may have been provoked by exposure to the drug during embryogenesis. In view of similar malformations observed in cases of prenatal exposure to cocaine, a recognized vasoconstrictor, it is suggested that vascular disruptions of hemodynamic origin constituted the event leading to some of the anomalies caused in the developing embryo. A complication of the chorionic villus sampling procedure, used for cytogenetic analysis, is another possibility.

scholarly journals Large Psoas Hematoma Complicating Anti-coagulant Therapy Poses a Diagnostic and Therapeutic Challenge

2021 ◽  
pp. 40-44
Author(s):  
Brahim Nassour A. ◽  
Hissein Hagguir ◽  
Noel Mahoungou ◽  
Harouna Seydou ◽  
Fadoul Adam ◽  
...  
Keyword(s):  
Vitamin K ◽  
Lower Limb ◽  
Psoas Muscle ◽  
Bed Rest ◽  
Lumbar Pain ◽  
Ultrasound Scan ◽  
Large Collection ◽  
Therapeutic Challenge ◽  
Ultimate Outcome ◽  
The Right

Spontaneous psoas haematoma in patients on anti-coagulant therapy is a rare phenomenon. It poses a real diagnostic problem and a real therapeutic challenge. We report the case of a 51 year old patient, under anti-vitamin K (acenocoumarone) following a stenosante and tricuspid mitral plasty who presented with right lumbar pain radiating to the lower limb leading to functional impotence. Clinically, he was hemodynamically stable with a hematoma measuring 88x29 mm and extending to 161 mm. The ultrasound scan showed a large collection at the expense of the lumbar psoas muscle and the CT scan showed a swollen appearance of the right psoas muscle in its iliac portion. Management was conservative: discontinuation of anti-vitamin K, bed rest, antibiotic therapy, and monitoring (clinical, biological and radiological). The ultimate outcome was favourable.

scholarly journals Idiopathic spontaneous compartment syndrome of the right lower limb: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Sareesh Bandapaati ◽  
Rayno Navinan Mitrakrishnan
Keyword(s):  
Risk Factors ◽  
Compartment Syndrome ◽  
Lower Limb ◽  
Clinical Signs ◽  
Acute Compartment Syndrome ◽  
Gradual Evolution ◽  
Lower Limb Pain ◽  
History Of ◽  
Extrinsic Risk ◽  
The Right

Abstract Background Acutely painful lower limb is a common presentation to the emergency department, and acute compartment syndrome is an important differential diagnosis to consider given the correct predisposing history and clinical presentation. However, idiopathic spontaneous compartment syndrome is an uncommon occurrence. Case presentation A 54-year-old Caucasian man with no previous comorbidities presented with acute right-sided lower limb pain with classical symptoms showing gradual evolution. He had no other history of medical relevance and no preceding injury. Examination showed a marginally enlarged right lower limb with stretched skin and tenderness. Routine blood tests were normal including D-dimer levels. However, in the absence of any underlying risk factors, acute compartment syndrome was suspected on clinical merit and confirmed with magnetic resonance imaging. He underwent successful surgical intervention with fasciotomy and achieved good recovery. Discussion Acute compartment syndrome, though commonly attributed to trauma, can occur due to varied causes. Spontaneous acute compartment syndrome is attributed to diabetes mellitus. Idiopathic acute spontaneous compartment syndrome occurs in the absence of either intrinsic or extrinsic risk factors and is rarely documented in the literature. This case highlights the importance of appreciating classical clinical signs and having the clinical acumen to consider an obvious diagnosis even in its rarer form of presentation.

scholarly journals Chromosomal abnormalities in a decade of prenatal testing at the Department of Obstetrics and Pathology of Pregnancy Medical University of Lublin

2015 ◽  
Vol 125 (1) ◽  
pp. 29-31
Author(s):  
Arkadiusz Krzyżanowski ◽  
Tomasz Gęca ◽  
Maciej Kwiatek ◽  
Anna Kwaśniewska
Keyword(s):  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Diagnostic Procedures ◽  
First Trimester ◽  
Screening Tests ◽  
Premature Delivery ◽  
Chorionic Villus Sampling ◽  
Ultrasound Scan ◽  
Biochemical Tests

Abstract Introduction. Chromosomal abnormalities, one of the leading causes of pregnancy complications, attract attention of both researchers and clinicians. They use two approaches to identify chromosomal abnormalities, namely screening and diagnostic tests. Ultrasonography is a very reliable screening and diagnostic tool, but the only way to determine if there are any chromosomal defects in the fetus, is performing one of invasive diagnostics tests chorionic villus sampling (CVS), cordocentesis or amniocentesis. Unfortunately, these invasive diagnostic procedures carry a potentially high risk of complications. Using amniocentesis means a procedure-related miscarriage risk at a rate of about 0.5-1%. Aim. The aim of this paper was to present our own experience, results in performing amniocentesis and a review of the literature. Material and methods. During a 10-year period 237 mid-trimester, transabdominal amniocenteses were performed. Results. The follow-up revealed one spontaneous abortion within seven days after the procedure. Premature delivery occurred in fourteen cases (two of them with chromosomal abnormalities). No neonatal deaths related to amniocentesis were noticed. Chromosomal abnormalities were detected in 33 patients. Conclusions. In the group with chromosomal abnormalities the main indications to perform amniocentesis were: improper ultrasound scan and the first trimester biochemical, noninvasive screening tests. This is a proof that modern, non-invasive procedures like the first-trimester ultrasound scan and biochemical tests should be made available to every pregnant woman and not only to mothers’ aged >35 years or those with a poor obstetrics history.

Acute abdomen in pregnancy: a retrospective study of pregnant patients hospitalised for abdominal pain

2020 ◽  
Vol 99 (3) ◽  
pp. 131-135
Keyword(s):  
Abdominal Pain ◽  
Clinical Signs ◽  
University Hospital ◽  
Diagnostic Process ◽  
Abdominal Emergency ◽  
Lower Abdominal Quadrant ◽  
Abdominal Emergencies ◽  
The Right ◽  
Abdominal Quadrant ◽  
In Pregnancy

Introduction: Abdominal emergencies occur in pregnant women with the rate of 1:500−635 pregnancies. Such conditions usually develop from full health and worsen rapidly. Symptoms are often similar to those in physiological pregnancy (abdominal pain, vomiting, constipation). The diagnostic process is thus difficult and both the mother and her child are at risk. Our aim was to evaluate the frequency of abdominal emergencies in the Department of Surgery, University Hospital in Pilsen and to consider their impact on pregnancy and on the newborn. Methods: We acquired a set of patients by retrograde collection of data. We searched for pregnant patients suspected of developing an abdominal emergency admitted to the Department of Surgery, Faculty of Medicine, Pilsen between 2004 and 2015. We evaluated a number of clinical signs to statistically describe the set. Results: The set included 121 patients; 42 of the patients underwent a surgical procedure and 79 received conservative treatment. 38 patients underwent appendectomy; 6 appendixes were with no pathologies. McBurney’s incision was an approach of choice in most cases. The most frequent symptom was pain in the right lower abdominal quadrant. The foetus has been lost in none of the cases. Conclusion: Acute appendicitis was the most frequent abdominal emergency in our set and also the most frequent reason for surgical intervention. The most specific sign was pain in the right lower abdominal quadrant. No impact of appendicitis or appendectomy on the health of the newborn has been observed. Even though abdominal emergencies in pregnancy are relatively rare, the results of the department are very good.

Dual and multiple trisomies: analysis of 38 cases from 13 thousand karyotyped embryos and fetuses

2017 ◽  
pp. 109-115
Author(s):  
N.P. Veropotvelyan ◽  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Primary Group ◽  
Chorionic Villus Sampling ◽  
Missed Abortion ◽  
Reproductive Losses

The study presents data of different authors, as well as its own data on the frequency of multiple trisomies among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of chromosomal abnormalities (CA) in I and II trimesters of gestation. The objective: determining the frequency of occurrence of double (DT) and multiple trisomies (MT) among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of occurrence of HA in I and II trimesters of gestation; establishment of the most common combinations of diesel fuel and the timing of their deaths compared with single regular trisomy; comparative assessment materinskogo age with single, double and multiple trisomies. Patients and methods. During the period from 1997 to 2016, the first (primary) group of products in 1808 the concept of missed abortion (ST) of I trimester was formed from women who live in Dnepropetrovsk, Zaporozhye, Kirovograd, Cherkasy, Kherson, Mykolaiv regions. The average term of the ST was 8±3 weeks. The average age of women was 29±2 years. The second group (control) consisted of 1572 sample product concepts received during medical abortion in women (mostly residents of Krivoy Rog) in the period of 5-11 weeks of pregnancy, the average age was 32 years. The third group was made prenatally karyotyped fruits (n = 9689) pregnant women with high risk of HA of the above regions of Ukraine, directed the Centre to invasive prenatal diagnosis for individual indications: maternal age, changes in the fetus by ultrasound (characteristic malformations and echo markers HA) and high risk of HA on the results of the combined prenatal screening I and II trimesters. From 11 th to 14 th week of pregnancy, chorionic villus sampling was performed (n=1329), with the 16th week – platsentotsentez (n=2240), 18 th and 24 th week – amniocentesis (n=6120). Results. A comparative evaluation of maternal age and the prevalence anembriony among multiple trisomies. Analyzed 13,069 karyotyped embryonic and fetal I-II trimester of which have found 40 cases of multiple trisomies – 31 cases in the group in 1808 missed abortion (2.84% of total HA), 3 cases including 1 572 induced medabortov and 7 cases during 9689 prenatal research (0.51% of HA). Determined to share the double trisomies preembrionalny, fetal, early, middle and late periods of fetal development. Conclusion. There were no significant differences either in terms of destruction of single and multiple trisomies or in maternal age or in fractions anembrionalnyh pregnancies in these groups. Key words: multiple trisomies, double trisomy, missed abortion, prenatal diagnosis.

Early ultrasound prenatal diagnosis of the Meckel — Gruber syndrome in combination with 47,XYY

2018 ◽  
Author(s):  
N.P. Veropotvelyan , E.S. Savarovskaya , T.V. Usenko
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
Autosomal Recessive Disorder ◽  
Chorionic Villus Sampling ◽  
Previous Pregnancy ◽  
Cystic Kidneys ◽  
Occipital Encephalocele ◽  
Posterior Fossa Cyst ◽  
The Family ◽  
Hands And Feet

Meckel — Gruber syndrome (MGS) is a rare lethal autosomal recessive disorder characterised by occipital encephalocele, polydactyly and bilateral dysplastic cystic kidneys. A case of prenatal diagnosis of MGS at 12 weeks of gestation is described. The previous pregnancy was terminated at 20 weeks due to polycystic kidneys of the fetus. The transabdominal scan of the present pregnancy revealed occipital encephalocele of the fetus. There was no oligohydramnios, but the fetal urinary bladder was not visualised and both kidneys were enlarged. The transvaginal sonogram demonstrated intracranial space dilatation (6 mm) and encepalocele with posterior fossa cyst, protrunding from the occipital bone deffect. The kidneys had the polycystic structure suggesting cystic dysplasia and there was no evidence of the hands and feet polydactyly. Based on these findings the diagnosis of the MGS was made. Chorionic villus sampling revealed 47,XYY. The family elected to terminate pregnancy and the diagnosis was confirmed by autopsy.

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