scholarly journals A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Panicos Shangaris ◽  
Alison Ho ◽  
Andreas Marnerides ◽  
Simi George ◽  
Mudher AlAdnani ◽  
...  
Keyword(s):  
Third Space ◽  
First Trimester ◽  
Pathological Process ◽  
Gene Variants ◽  
Fetal Hydrops ◽  
Case Presentation ◽  
Intrauterine Life ◽  
Fatal Course ◽  
Immunodeficiency Syndrome ◽  
Underlying Pathology

Abstract Background Fetal hydrops is excessive extravasation of fluid into the third space in a fetus, which could be due to a wide differential of underlying pathology. IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome primarily affects males. It is a monogenic primary immunodeficiency syndrome of X-linked recessive inheritance due to FOXP3 gene variants. It is characterised by the development of multiple autoimmune disorders in affected individuals. Case presentation We present a rare cause of male fetal hydrops in the context of IPEX syndrome and discuss FOXP3 gene variants as a differential for ‘unexplained’ fetal hydrops that may present after the first trimester. Discussion and conclusions In all similar cases, the pathological process begins during intrauterine life. Furthermore, there are no survivors described. Consequently, this variant should be considered as a severe one, associated with intrauterine life onset and fatal course, i.e., the most severe IPEX phenotype.

SERIAL NERVE CONDUCTION STUDIES IN A GUILLAIN-BARRÉ SYNDROME VARIANT: THE EVOLUTION OF DEMYELINATING CHANGES

2015 ◽  
Vol 86 (11) ◽  
pp. e4.158-e4
Author(s):  
Catherine Morgan ◽  
Benjamin Wakerley ◽  
Geraint Fuller
Keyword(s):  
Nerve Conduction ◽  
Case Series ◽  
Pathological Process ◽  
Nerve Conduction Studies ◽  
Guillain Barre Syndrome ◽  
Facial Weakness ◽  
Guillain Barré Syndrome ◽  
Guillain Barré ◽  
Underlying Pathology ◽  
Serial Assessments

Guillain Barré syndrome (GBS) varies both in terms of clinical phenotype and underlying pathology. Serial assessments allow greater understanding of the pathophysiology. The evolution of neurophysiological changes is particularly helpful in distinguishing between demyelination and reversible axonal conduction failure.Bilateral facial weakness with distal paraesthesias is a rare subtype of GBS. In the largest case series 64% had abnormalities in motor and 27% in sensory conduction on single neurophysiological assessments; this was interpreted as a demyelinating neuropathy.We report an 18-year-old male with bilateral lower motor neurone facial weakness preceded by distal paraesthesias following a ‘flu-like illness. Examination of power and sensation was normal. Deep tendon reflexes were present. Cerebrospinal fluid showed albuminocytologic dissociation. By 6 weeks his facial weakness had almost completely resolved without treatment.Serial nerve conduction studies were performed. The first study (day 4) found prolonged distal motor latency and delayed F waves in posterior tibial and common peroneal nerves; normal sensory studies. Second study (day 18) found distal motor latencies and F waves had increased in upper and lower limb nerves. Third study (day 60) found improvement but abnormalities remained with changes similar to the first study.The neurophysiological changes became more marked while he improved clinically. These serial studies confirmed the primary pathological process of this GBS variant to be demyelination.

scholarly journals A Novel Heterozygous Missense Variant in YWHAG Gene Cause Early-Onset Epilepsy in a Chinese Family

2020 ◽  
Author(s):  
Zhi Yi ◽  
Zhenfeng Song ◽  
Jiao Xue ◽  
Chengqing Yang ◽  
Fei Li ◽  
...  
Keyword(s):  
Early Onset ◽  
Seizure Control ◽  
De Novo ◽  
Missense Variant ◽  
Epileptic Encephalopathy ◽  
Chinese Family ◽  
Gene Variants ◽  
Case Presentation ◽  
Epileptic Encephalopathies ◽  
Refractory Seizures

Abstract Background: Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of severe disorders which are characterized by early-onset, refractory seizures and developmental slowing or regression. Genetic variations are significant causes for them. De novo variants in an increasing number of candidate genes have been found to be causal. YWHAG gene variants have been reported to cause developmental and epileptic encephalopathy 56 (DEE56). Case presentation: Here, we report a novel heterozygous missense variant c.170G>A (p.R57H) in YWHAG gene cause early-onset epilepsy in a Chinese family. Both the proband and his mother exhibit early onset seizures, intellectual disability, developmental delay. While the proband achieve seizure control with sodium valproate, his mother's seizures were not well controlled. Conclusions: Our report further confirming the haploinsufficiency of YWHAG results in developmental and epileptic encephalopathies.

scholarly journals Female with Vaginal Bleeding

2020 ◽  
Vol 4 (4) ◽  
pp. 636-637
Author(s):  
Mark Quilon ◽  
Alec Glucksman ◽  
Gregory Emmanuel ◽  
Josh Greenstein ◽  
Barry Hahn
Keyword(s):  
Emergency Department ◽  
Emergency Physician ◽  
Vaginal Bleeding ◽  
Point Of Care ◽  
First Trimester ◽  
Yolk Sac ◽  
Pregnant Female ◽  
Point Of Care Ultrasound ◽  
Fetal Demise ◽  
Case Presentation

Case Presentation: A 24-year-old pregnant female presented to the emergency department with lower abdominal cramping and vaginal bleeding. A point-of-care ultrasound demonstrated a calcified yolk sac. Discussion: When identified, calcification of the yolk sac in the first trimester is a sign of fetal demise. It is important for an emergency physician to be aware of the various signs and findings on point-of-care ultrasound and be familiar with the management of these pathologies.

Further insights into unusual acrania-exencephaly-anencephaly sequence caused by amniotic band – first trimester fetoscopic correlation with two- and three-dimensional ultrasound

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Jan Weichert ◽  
Waldo Sepulveda ◽  
Michael Gembicki
Keyword(s):  
Neural Tube Defect ◽  
Three Dimensional ◽  
First Trimester ◽  
Cystic Degeneration ◽  
Amniotic Band ◽  
Case Presentation ◽  
Constriction Ring ◽  
Antenatal Detection ◽  
Unusual Type

Abstract Objectives Antenatal detection of acrania-exencephaly-anencephaly (AEA) sequence beyond 10 completed weeks of gestation is usually straight-forward. An earlier detection and classification of the causative conditions prior to disaggregation of exposed dysplastic brain tissue remains challenging. Case presentation We present two- and three-dimensional ultrasound correlated with fetoscopic findings of an unusual type of neural tube defect at 11 gestational weeks caused by an amniotic constriction ring resulting in cystic degeneration of the developing skull. Conclusions By giving further illustrative insights into early defective brain development, this report confirms recent findings of an unusual subtype of acrania-exencephaly-anencephaly sequence suggesting early disruption of the developing brain, following an amniotic entrapment of the skull.

scholarly journals Varicella Vaccination During Early Pregnancy: A Cause of in utero Miliary Fetal Tissue Calcifications and Hydrops?

2002 ◽  
Vol 10 (3) ◽  
pp. 159-160 ◽  
Author(s):  
Joseph Apuzzio ◽  
Vijaya Ganesh ◽  
Leslie Iffy ◽  
Anthony Al-Khan
Keyword(s):  
Menstrual Cycle ◽  
Early Pregnancy ◽  
Varicella Vaccine ◽  
Subsequent Development ◽  
Pregnant Patient ◽  
Fetal Tissue ◽  
In Utero ◽  
Varicella Vaccination ◽  
Fetal Hydrops ◽  
Case Presentation

Background: It is the purpose of this article to describe a suspected association of inadvertent vaccination with varicella vaccine during early pregnancy with the subsequent development of in utero miliary fetal tissue calcifications and fetal hydrops detected by sonogram at 15 weeks of gestation.Case: This is a case presentation of a pregnant patient who received varicella vaccination during the same menstrual cycle that she became pregnant, and is supplemented by a literary review. The fetus developed miliary fetal tissue calcifications and fetal hydrops detected by a targeted sonogram at 15 weeks gestation.Conclusion: Varicella vaccination during early pregnancy may be a cause of miliary fetal tissue calcifications and fetal hydrops.

scholarly journals MATERNAL INFECTION WITH PARVOVIRUS B19 LEADING TO FETAL HYDROPS AND INTRAUTERINE DEATH – CASE PRESENTATION

2016 ◽  
Vol 19 (3) ◽  
pp. 73-77
Author(s):  
Mărginean Claudiu ◽  
◽  
Pușcașiu Lucian ◽  
Molnar Varlam Claudiu ◽  
Rugină Cosmin ◽  
...  
Keyword(s):  
Parvovirus B19 ◽  
First Trimester ◽  
Intrauterine Death ◽  
Severe Anemia ◽  
Fetal Hydrops ◽  
Fetal Ultrasound ◽  
Recent Infection ◽  
Trimester Abortion ◽  
To Come ◽  
Human Line

Parvovirus B19 belongs to the Parvoviridae family, Erythrovirus type, and it presents cytotoxicity on the erythroblast human line leading to severe anemia. We present the case of a 35-year-old woman, at the 3rd pregnancy, with a first trimester abortion in her history and a physiological birth, who presented to the specialty check-up at 20 gestational weeks, associating the signs of a respiratory infection, without any other pathologies until this gestational age. The laboratory tests and the fetal ultrasound did not point out any pathological elements, therefore the patient was sent home with the recommendation to come back after 2 weeks for reevaluation, when the fetal ultrasound revealed fetal hydrops and severe anemia, and after 24 hours fetal asystole. Maternal serology pointed out recent infection with Parvovirus B19. The particularity of this case consists in the appearance of relative rare fetal infection in the second trimester of pregnancy in the case of a physiological, monitored pregnancy, with unfavorable prognosis and fulminant death towards intrauterine death.

scholarly journals Successful Management of a Complicated Mirror Syndrome: A Case Presentation

2019 ◽  
Author(s):  
Fatemeh Rahimi-Sharbaff ◽  
Nafiseh Saedi
Keyword(s):  
Conservative Treatment ◽  
Cesarean Section ◽  
Liver Enzyme ◽  
Twin Pregnancy ◽  
Successful Management ◽  
Fetal Hydrops ◽  
Case Presentation ◽  
Cesarean Section Delivery ◽  
Preeclamptic Patient ◽  
Fetal Infection

Mirror syndrome is a rare but serious condition of pregnancy characterized by fetal hydrops of any cause and maternal edema that has severe maternal and fetal morbidity and mortality. In most cases, the pregnancy should be terminated to resolve the symptoms. Some cases with mirror syndrome resolve spontaneously due to the demise of the hydropic fetus or fetal infection with parvovirus. This case is a rare complicated mirror syndrome that managed conservatively up to 34 weeks and 3 days of gestation. This case was a unique Dichorionic Diamniotic (DCDA) twin pregnancy with mirror syndrome, that feticide of the hydropic fetus has resolved symptoms of mirror syndrome. Although the mother’s liver enzyme increased after 3 weeks of feticide, we managed to save pregnancy by conservative treatment until 34 weeks and 3 days of gestation. Finally, the mother had a cesarean section delivery. The baby is now 6 months old with normal neurodevelopmental parameters. This case suggests that preeclampsia can happen after feticide due to twin pregnancy and the retained placenta. If we consider this event, we can manage pregnancy conservatively as a preeclamptic patient.

scholarly journals The Association of Gene Variants in the Vitamin D Metabolic Pathway and Its Interaction with Vitamin D on Gestational Diabetes Mellitus: A Prospective Cohort Study

Nutrients ◽  
2021 ◽  
Vol 13 (12) ◽  
pp. 4220
Author(s):  
Minjia Mo ◽  
Bule Shao ◽  
Xing Xin ◽  
Wenliang Luo ◽  
Shuting Si ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Vitamin D ◽  
Gestational Diabetes ◽  
Gestational Diabetes Mellitus ◽  
Plasma Glucose ◽  
Fasting Plasma Glucose ◽  
First Trimester ◽  
Postprandial Glucose ◽  
Gene Variants ◽  
Fasting Plasma

The present prospective study included 2156 women and investigated the effect of gene variants in the vitamin D (VitD) metabolic and glucose pathways and their interaction with VitD levels during pregnancy on gestational diabetes mellitus (GDM). Plasma 25(OH)D concentrations were measured at the first and second trimesters. GDM subtype 1 was defined as those with isolated elevated fasting plasma glucose; GDM subtype 2 were those with isolated elevated postprandial glucose at 1 h and/or 2 h; and GDM subtype 3 were those with both elevated fasting plasma glucose and postprandial glucose. Six Gc isoforms were categorized based on two GC gene variants rs4588 and rs7041, including 1s/1s, 1s/2, 1s/1f, 2/2, 1f/2 and 1f/1f. VDR-rs10783219 and MTNR1B-rs10830962 were associated with increased risks of GDM and GDM subtype 2; interactions between each other as well as with CDKAL1-rs7754840 were observed (Pinteraction < 0.05). Compared with the 1f/1f isoform, the risk of GDM subtype 2 among women with 1f/2, 2/2, 1s/1f, 1s/2 and 1s/1s isoforms and with prepregnancy body mass index ≥24 kg/m2 increased by 5.11, 10.01, 10, 14.23, 19.45 times, respectively. Gene variants in VitD pathway interacts with VitD deficiency at the first trimester on the risk of GDM and GDM subtype 2.

scholarly journals The elusive diagnosis and emergent management of a late-presenting ruptured interstitial pregnancy: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Lauren M. Ahlschlager ◽  
David Mysona ◽  
A. Jenna Beckham
Keyword(s):  
Uterine Cavity ◽  
Exploratory Laparotomy ◽  
First Trimester ◽  
Intrauterine Pregnancy ◽  
Case Presentation ◽  
Interstitial Pregnancy ◽  
Fertility Sparing ◽  
Missed Diagnosis ◽  
Poor Outcomes ◽  
First Trimester Ultrasound

Abstract Background Interstitial pregnancies are rare and often difficult to diagnose given their proximal position to the uterine cavity, however most are identified by 12 weeks gestation. Delayed or missed diagnosis contributes to heightened incidence of poor outcomes including hemorrhage and death. Case presentation A 35-year-old woman at 15 weeks gestation with confirmed intrauterine pregnancy on first trimester ultrasound and prior negative MRI presented in hemorrhagic shock and was found to have a ruptured interstitial pregnancy. Exploratory laparotomy revealed the fetus to be in the abdomen as well as a large cornual defect and abnormal placentation that resulted in supracervical hysterectomy. Conclusions Interstitial pregnancy should be considered in a patient presenting with symptoms consistent with ectopic rupture, especially in the setting of equivocal or suboptimal prior imaging. Earlier diagnosis may allow for fertility-sparing intervention and decreased risk of morbidity and mortality.

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