Case Reports in Perinatal Medicine最新文献

Objectives: Partial trisomy of chromosome 1 has been reported following unbalanced translocations with partial monosomies of other chromosomes and rarely as a pure partial duplication. We aim to discuss partial trisomy 1q with cytogenetics and describe our findings of this uncommon chromosomal aneuploidy.

Case presentation: A male term neonate presented with antenatal ventriculomegaly and early fetal growth restriction. He was dysmorphic at birth and his postnatal course was complicated by transient myeloproliferative disorder, neonatal seizures, skin rash, conjugated hyperbilirubinemia, and milk protein allergy. Etiological work-ups including congenital infections, immunological disorders, and inborn error of metabolisms were negative. The findings of transient myeloproliferative disorder in association with partial 1q trisomy which have not been previously described in the literature, raise the possibility of abnormal vasculature of generalized nature, resulting in cutis marmorata, signs of intestinal inflammation, and abnormal cerebral vascular supply.

Conclusions: This case study highlights the importance of pooling cases with similar locations of duplication, segment size, and related chromosomal deficiency together to understand distinct clinical phenotypes.

Objectives: To describe the clinical presentation and response to medication in two cases of self-limiting KCNQ2-related epilepsy.

Case presentation: Both infants were born at term and had tonic seizures during the first two weeks after birth. The first infant had frequent seizures at presentation requiring two weeks of hospital stay. The second infant was born three months later and was only briefly admitted to hospital. The first infant was conceived by sperm for in vitro fertilization donated by the second case's father. Trio genome sequencing in case one successfully identified a pathogenic KCNQ2 variant in the proband, which was also confirmed in the proband for case 2 by targeted Sanger sequencing. The second case's father was an asymptomatic carrier of the pathogenic variant. Both infants responded to Carbamazepine. At more than six months of age, they are currently seizure free and developmentally normal.

Conclusions: Self-limited epilepsies with onset in neonates (SeLNE) are usually autosomal dominant disorders characterized by the neonatal onset of focal motor seizures and the absence of neurodevelopmental complications. KCNQ2, encoding a voltage-gated potassium channel subunit, K_V7.2, is the most common gene associated with SeLNE. Careful history taking and a genetic diagnosis can help to make the correct therapeutic choices.

Objectives: Midline defects in the brain may be related to genetic syndromes. Association with facial anomalies and skeletal deformities has been described.

Case presentation: In the present case, a routine second trimester scan revealed cerebral abnormalities (corpus callosum agenesis, cerebellar cleft due to vermian hypoplasia, ventriculomegaly), suspected cortical developmental disorder, hypertelorism, a hypoplastic nasal bone, a small median cleft lip and palate, abnormal facial profile, as well as syndactyly of the left hand involving the fourth and fifth finger. Genetic testing revealed a normal karyotype. Subsequent trio exome sequencing did not identify any pathogenic variants or variants of unknown significance. The vaginal delivery at term and postnatal adaptation were uneventful. Postnatal neurosonographic imaging and clinical evaluation confirmed the prenatal findings. Both mother and child were discharged in healthy condition with scheduled follow-ups. Differential diagnoses of the present anomalies include Hartsfield-Bixler-Demyer Syndrome, Oro-Facial-Digital-Syndromes, Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate Syndrome and Acrocallosal Syndrome.

Conclusions: Invasive diagnostic and genetic testing are recommended when multiple fetal anomalies suggest a potential genetic syndrome. While not all cases reveal an underlying genetic cause, prenatal findings can provide valuable information to help parents and healthcare providers make informed decisions about the continuation of the pregnancy.

Objectives: To compare clinical presentation and diagnostic evaluation to identify differences in treatment between pregnant and nonpregnant patients with appendicitis.

Methods: Retrospective case-control study comparing 12 pregnant and 60 nonpregnant, age-matched patients who had an appendectomy for acute appendicitis (pathology confirmed) between January 1, 2011 and June 30, 2019. We compared maternal characteristics, laboratory test results, physical examination findings, diagnostic work-up, surgical modality, and surgical outcomes.

Results: There was no difference in symptom profile and pain intensity at presentation between groups. More pregnant patients had right upper quadrant tenderness (83.3% vs. 31 %, p=0.03) and were more likely to have more than one imaging diagnostic modality (75% vs. 15 %, p<0.01). In nonpregnant patients, computed tomography was the main diagnostic modality (90 %) whereas there was more variation in imaging for pregnant patients. For pregnant patients, time from presentation to surgery (20.0 ± 11.8 h vs. 9.9 ± 4.9 h; p=0.01) and time from presentation to receipt of antibiotics (14.5 ± 12.0 h vs. 5.9 ± 3.2 h, p<0.01) were twice that of nonpregnant patients. Surgery duration was similar between groups (pregnant: 54.8 ± 31.3 min vs. nonpregnant: 45.6 ± 19.5 min, p=0.34). All nonpregnant patients underwent laparoscopic appendectomy. Seven pregnant patients underwent laparoscopy, three had laparotomy, and two began with laparoscopy that was converted to laparotomy. More pregnant patients perforated (25 % vs. 3.3 %, p=0.03).

Conclusions: Despite having similar presentations, it took twice as long to treat pregnant patients with antibiotics and perform an appendectomy. More perforations occurred in pregnant patients compared to nonpregnant patients.

Objectives: To highlight the importance of serial echocardiography in preterm infants with bronchopulmonary dysplasia (BPD) to diagnose recurrent pulmonary vein stenosis (PVS) and understand its contribution to respiratory deteriorations.

Case presentation: A preterm female infant born at 23+5 weeks gestation had numerous complications related to extreme prematurity, including BPD. She was diagnosed with PVS on echocardiogram after experiencing recurrent respiratory deteriorations and pulmonary hypertensive crises. Initial management involved transcutaneous balloon dilatation. A serial echocardiographic programme was implemented, with weekly monitoring of PVS. She suffered multiple respiratory deteriorations secondary to recurrence of PVS, necessitating repeat cardiac catheterisations and transcatheter stenting. Systemic macrolide therapy with sirolimus was used as adjunctive therapy.

Conclusions: Extremely prematurely born infants who develop BPD are at higher risk of recurrent PVS. We demonstrate that serial echocardiographic monitoring facilitates early diagnosis and prompt intervention of PVS. Any respiratory deterioration in such infants should be assessed by an echocardiogram.

Objectives: Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder of hypercytokinemia and immune dysregulation. Most commonly diagnosed in the pediatric population due to genetic predisposition, the condition can manifest in the adult population secondary to an immune dysregulating event, such as infection, malignancy, rheumatologic disorders, immunodeficiency, and checkpoint inhibitors. The presentation and diagnosis during pregnancy are extremely rare and elusive. We present a case of secondary HLH during the peripartum period, urging obstetrical providers to keep the condition as part of their differential diagnosis.

Case presentation: A 20-year-old Gravida 1, with a past medical history significant for non-alcoholic hepatosteatosis and morbid obesity, presented multiple times to the emergency department in the third trimester with liver function test derangements and vague complaints of subjective fevers and fatigue. She eventually tested positive for COVID-19. Two weeks after the initial presentation, she went into spontaneous preterm labor and delivered. Postpartum, her liver dysfunction worsened in association with high fevers and persistent tachycardia. After an extensive workup failed to reveal an etiology, HLH was suspected. Labs were sent for confirmation, and she was initiated on pulse-dose steroids. However, the patient acutely decompensated and succumbed to the disease. Several days later, labs resulted, confirming the diagnosis of HLH.

Conclusions: In peripartum patients presenting with severe derangements in liver function tests and vague symptoms with undulating episodes of pyrexia, HLH should be considered early as part of the differential diagnosis. This is particularly true when antibiotics or postpartum status fail to alleviate the symptomatology or improve the clinical course.

Objectives: To add to the nascent literature on twin anemia polycythemia sequence by presenting a unique cardiac complication in the recipient twin.

Case presentation: We describe a monochorionic diamniotic pregnancy complicated by twin anemia polycythemia sequence wherein the recipient twin developed signs of right heart failure secondary to premature ductus arteriosus constriction, requiring iatrogenic preterm delivery to avoid intrauterine demise.

Conclusions: This case report introduces a previously undescribed complication of twin anemia polycythemia sequence and adds to the growing literature on this clinical entity.

Objectives: To describe the prenatal diagnosis, unique clinical features, clinical and genetic evaluation, and the pregnancy and neonatal course of two siblings affected by Lethal Congenital Contractural Syndrome 2 (LCCS2).

Case presentation: We present two cases of LCCS2, a rare autosomal recessive disorder in the arthrogryposis multiplex spectrum of syndromes whose sine qua non feature is the presence of nonobstructive, neurogenic megacystis. The prenatal diagnosis of this syndrome has not been previously reported. This syndrome has been previously studied in detail in an Israeli-Bedouin kindred but it has not been reported in the Americas.

Conclusions: These two cases illustrate the diagnostic and therapeutic dilemmas associated with this rare genetic abnormality. LCCS2 can be seen in other patient populations besides Israeli-Bedouin. They also suggest the presence of phenotypic variability in the clinical outcomes. Finally, they underscore the need for specialized diagnostic capabilities, the involvement of multidisciplinary teams to support challenging family situations, and the need for shared decision-making.

Objectives: To detect fetal hyaloid artery (FHA) blood flow using SlowflowHD in the first trimester.

Methods: During the 8-month period from February to September 2023, one-hundred and eighty-three trans-abdominal scans were performed for first-trimester screening in singleton pregnancies at 11-13 + 6 weeks of gestation. One-hundred and fifty-two cases were excluded from the study due to inappropriate fetal positions, excessive fetal movements, and excessive distances between the fetus and probe; thus, thirty-one fetuses (20.4 %) were examined, comprising 19 uni- and 12 bilateral orbits. One fetus with trisomy 21 was also evaluated at 12 weeks and 1 day. FHA was classified into two types based on the starting point angle (Straight, straightly diverged from ophthalmic artery; and Curved, crookedly diverged from ophthalmic artery) using SlowflowHD.

Results: In 19 uni- and 12 bilateral orbits in 31 fetuses, FHA could be identified in all orbits. In one orbit at 13 weeks and 5 days, blood flow on the string FHA could be detected. The vasa hyaloidea propria was noted in 3 orbits, and the posterior vascular capsule was depicted in 7 orbits. The incidence of Straight-type FHA increased with advancing gestation (p<0.0001). In a fetus with Trisomy 21, Straight-type FHA was noted in the left orbit, whereas FHA could not be identified in the right orbit.

Conclusions: This is the first report on the detection of FHA in the first trimester of pregnancy. SlowflowHD may be a useful diagnostic modality to evaluate human vascular development, such as FHA in utero.

Objectives: Acute fatty liver of pregnancy (AFLP) is a rare, potentially fatal complication of unknown etiology that occurs in the third trimester or early postpartum and can be associated with adverse maternal and fetal outcomes. The purpose of this report is to share a case of AFLP in which a period of objective and symptomatic resolution preceded delayed postpartum liver failure and liver transplant.

Case presentation: A 35-year-old G3P0020 female experienced preterm premature rupture of membranes (PPROM) at 32 weeks' gestation and AFLP. She delivered vaginally and despite apparent initial disease resolution, was found 22 days later to have fulminant acute liver failure that required liver transplantation.

Conclusions: AFLP should be monitored closely postpartum even if disease parameters initially appear to resolve after delivery.