Case Reports in Perinatal Medicine最新文献

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Peripartum COVID-19 & hemophagocytic lymphohistiocytosis: a case report.
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2024-12-17 eCollection Date: 2024-01-01 DOI: 10.1515/crpm-2024-0033
Kathy Mostajeran, Daniel Rabulinksi, Abdul Khan, Nehan Sher, Christopher K Huls, Chien C Oh
{"title":"Peripartum COVID-19 & hemophagocytic lymphohistiocytosis: a case report.","authors":"Kathy Mostajeran, Daniel Rabulinksi, Abdul Khan, Nehan Sher, Christopher K Huls, Chien C Oh","doi":"10.1515/crpm-2024-0033","DOIUrl":"10.1515/crpm-2024-0033","url":null,"abstract":"<p><strong>Objectives: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"13 1","pages":"20240033"},"PeriodicalIF":0.1,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11800664/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143555980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prenatal diagnosis and management of Milroy syndrome: a case report. Milroy综合征的产前诊断与处理1例报告
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2023-09-07 eCollection Date: 2023-01-01 DOI: 10.1515/crpm-2023-0013
Zacharias Fasoulakis, Marianna Chatziioannou, Antonios Koutras, Marianna Theodora, Afroditi Pegkou, Andreas Pampanos, George Daskalakis, Panagiotis Antsaklis
{"title":"Prenatal diagnosis and management of Milroy syndrome: a case report.","authors":"Zacharias Fasoulakis, Marianna Chatziioannou, Antonios Koutras, Marianna Theodora, Afroditi Pegkou, Andreas Pampanos, George Daskalakis, Panagiotis Antsaklis","doi":"10.1515/crpm-2023-0013","DOIUrl":"10.1515/crpm-2023-0013","url":null,"abstract":"<p><strong>Objectives: </strong>Milroy syndrome is a rare hereditary disorder characterized by congenital lymphedema, caused by mutations in the vascular endothelial growth factor receptor 3 (<i>VEGFR3</i>) gene.</p><p><strong>Case presentation: </strong>We present a case report of a first-described mutation of a male fetus diagnosed prenatally with Milroy syndrome through amniocentesis. The fetus had bilateral lower limb edema, and genetic testing confirmed the diagnosis of Milroy syndrome. The patient was closely monitored throughout the pregnancy, and after delivery, the infant was managed with appropriate therapies, including compression garments and manual lymphatic drainage. The parents were provided with appropriate counseling and support.</p><p><strong>Conclusions: </strong>This case highlights the significance of early detection and appropriate management of Milroy syndrome, which can lead to improved outcomes for affected infants.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"10 1","pages":"20230013"},"PeriodicalIF":0.1,"publicationDate":"2023-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11616980/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82990568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Congenital glioblastoma - prenatal diagnosis becoming a diagnostic challenge after birth: a case report. 先天性胶质母细胞瘤-产前诊断成为出生后诊断的挑战:1例报告
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2023-09-04 eCollection Date: 2023-01-01 DOI: 10.1515/crpm-2023-0008
Orzeł M Maria, Pruszek K Weronika, Borek-Dzięcioł Beata, Głuszczak-Idziakowska Ewa, Kociszewska-Najman Bożena
{"title":"Congenital glioblastoma - prenatal diagnosis becoming a diagnostic challenge after birth: a case report.","authors":"Orzeł M Maria, Pruszek K Weronika, Borek-Dzięcioł Beata, Głuszczak-Idziakowska Ewa, Kociszewska-Najman Bożena","doi":"10.1515/crpm-2023-0008","DOIUrl":"10.1515/crpm-2023-0008","url":null,"abstract":"<p><strong>Objectives: </strong>The incidence of congenital brain tumors is estimated at 1.1-3.6 per 100.000 live births, accounting for 0.5-2 % of all cancers in the pediatric population. Congenital gliomas account for 3.1-8.9 % of all congenital brain tumors and are cancers with a poor prognosis. The rate of stillbirth and death on the first day of life reaches 29 %; 38 % die within the first week, and 56 % die within the first two months. The average length of survival is two years.</p><p><strong>Case presentation: </strong>In the 29th week of pregnancy, a female fetus was diagnosed with intracranial hemorrhage complicated by hydrocephalus. Postnatal brain MRI imaging showed a solid proliferative lesion of the left hemisphere with dilatation of the ventricular system. Brown cerebrospinal fluid was collected during the puncture of the left lateral ventricle to reduce hydrocephalus. No tumor cells were detected by cytology. Due to increasing hydrocephalus, the patient was qualified for Rickham reservoir implantation. On day 27th, a craniotomy was performed to determine the etiology of recurrent prenatal intraventricular bleeding. During surgery, the bleeding mass raised the suspicion of neoplasm-histopathological examination of the retrieved tissue diagnosed WHO stage IV malignant glioma. The patient died at 8 months of age.</p><p><strong>Conclusions: </strong>Prenatal diagnosis of an abnormal structure in the fetal brain remains a diagnostic challenge in neonates. Glioblastoma is a rare neoplasm with a poor prognosis.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"66 1","pages":"20230008"},"PeriodicalIF":0.1,"publicationDate":"2023-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11616977/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87506517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A successful vaginal birth after cesarean in a patient with uterine didelphys. 子宫畸形患者剖宫产后阴道分娩成功
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2023-09-04 eCollection Date: 2023-01-01 DOI: 10.1515/crpm-2023-0005
Samantha Gobioff, Michael Plakogiannis, Amos Grünebaum
{"title":"A successful vaginal birth after cesarean in a patient with uterine didelphys.","authors":"Samantha Gobioff, Michael Plakogiannis, Amos Grünebaum","doi":"10.1515/crpm-2023-0005","DOIUrl":"10.1515/crpm-2023-0005","url":null,"abstract":"<p><strong>Objectives: </strong>With increasing rates of cesarean delivery across the United States, a trial of labor after cesarean (TOLAC) is a reasonable alternative for qualified candidates. Although Müllerian anomalies are associated with a variety of adverse pregnancy outcomes, there is little existing data regarding TOLAC in these patients. We present a case of a patient with a didelphys uterus who achieved a successful vaginal birth after cesarean section (VBAC) in the setting of labor augmentation.</p><p><strong>Case presentation: </strong>Our patient is a 32-year-old G4P1021 (Gravida 4 Para 1,021-1 term delivery, 0 preterm deliveries, 2 abortions, 1 living offspring) who presented at 8 weeks of gestation with a known history of a didelphys uterus. Her obstetrical history was significant for a prior low-transverse cesarean section at term. All four of her pregnancies were located in the right uterine horn. At 39 weeks 3 days of gestation she presented in early labor and requested a TOLAC. She received an epidural, a cervical ripening balloon was placed, and she was started on pitocin. She pushed to deliver a viable infant. The patient's postpartum course was uncomplicated, and she was discharged home on postpartum day two.</p><p><strong>Conclusions: </strong>Müllerian anomalies are associated with several poor pregnancy outcomes including increased rates of PPROM, preterm delivery, FGR, and malpresentation necessitating a cesarean section. Our patient required augmentation of her labor but was ultimately able to achieve a successful VBAC with a healthy neonate. She represents an understudied population of patients with uterine anomalies who not only can have favorable pregnancy outcomes but may even be able to safely achieve a VBAC.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"23 1","pages":"20230005"},"PeriodicalIF":0.1,"publicationDate":"2023-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11616534/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81237266","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Fetoscopic endoluminal tracheal occlusion (FETO) and bilateral congenital diaphragmatic hernia. 胎儿镜下腔内气管闭塞(FETO)和双侧先天性膈疝
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2023-08-25 eCollection Date: 2023-01-01 DOI: 10.1515/crpm-2023-0010
Adrita Khawash, Rania Kronfli, Anusha Arasu, Rashmi Gandhi, Kypros Nicolaides, Anne Greenough
{"title":"Fetoscopic endoluminal tracheal occlusion (FETO) and bilateral congenital diaphragmatic hernia.","authors":"Adrita Khawash, Rania Kronfli, Anusha Arasu, Rashmi Gandhi, Kypros Nicolaides, Anne Greenough","doi":"10.1515/crpm-2023-0010","DOIUrl":"10.1515/crpm-2023-0010","url":null,"abstract":"<p><strong>Objectives: </strong>Bilateral congenital diaphragmatic hernias (CDH) occur in one to two percent of CDH patients. There is a lower survival due to the greater likelihood of lung hypoplasia and associated anomalies. We report an infant with bilateral CDH and duodenal atresia who was successfully treated by fetoscopic endoluminal tracheal occlusion (FETO).</p><p><strong>Case presentation: </strong>The fetus was diagnosed with CDH at 23 weeks of gestation. Her mother was referred to our tertiary centre as the observed to expected lung-to-head ratio (O/E LHR) at 26 weeks of gestation was only 17 %. The fetus was treated by FETO with an increase in the LHR. The mother had polyhydramnios and underwent amniotic fluid drainage at 26 and 31 weeks of gestation. She had preterm, premature rupture of the membranes at 31+3 weeks of gestation. The FETO balloon was punctured and the mother received corticosteroids. She underwent spontaneous labour at 35+6 weeks of gestation when the LHR was 55 %. At birth, the female infant was electively intubated and ventilated. After successful stabilisation, surgical intervention was undertaken on day six when the defects were identified as bilateral, type C posterolateral CDHs. Bilateral patch repair of the CDHs was undertaken using 'domed' Goretex patches. Type one duodenal atresia (DA) was identified and repaired with enterotomy and diamond duodenoduodenostomy. There was partial and then full abdominal closure on days 12 and 15 respectively. The infant is now four months of age and requires no respiratory support.</p><p><strong>Conclusions: </strong>FETO can improve prognosis in infants with bilateral CDH.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"61 1","pages":"20230010"},"PeriodicalIF":0.1,"publicationDate":"2023-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11616979/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74120136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Birth-related soft tissue injury due to transverse malpresentation at delivery: a case report. 出生相关的软组织损伤,由于横向表现不佳在分娩:1例报告
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2023-08-14 eCollection Date: 2023-01-01 DOI: 10.1515/crpm-2023-0009
Celine Rohaert, Anne Poleij, Chantal Quispel, Miranda de Jong, Pierluigi Ciet, Florian Cassel
{"title":"Birth-related soft tissue injury due to transverse malpresentation at delivery: a case report.","authors":"Celine Rohaert, Anne Poleij, Chantal Quispel, Miranda de Jong, Pierluigi Ciet, Florian Cassel","doi":"10.1515/crpm-2023-0009","DOIUrl":"10.1515/crpm-2023-0009","url":null,"abstract":"<p><strong>Objectives: </strong>Birth-related mechanical trauma to the newborn is an important issue and may be underestimated [Chaturvedi A, Chaturvedi A, Stanescu AL, Blickman JG, Meyers SP. Mechanical birth-related trauma to the neonate: an imaging perspective. Insights Imag 2018;9:103-18]. Risk factors for birth-related injuries include vacuum or forceps delivery, large size for gestational age and abnormal presentation before delivery [Gupta R, Cabacungan ET. Neonatal birth trauma: analysis of yearly trends, risk factors, and outcomes. J Pediatr 2021;238:174-80]. When a newborn has a soft tissue mass, there is a wide range of potential diagnoses, ranging from benign traumatic origins to aggressive phenotypes of malignant tumors [Thacker M. Benign soft tissue tumors in children. Orthop Clin N Am 2014;44:433-44]. Diagnosing a congenital tumor in a newborn creates uncertainty for parents and health care providers. Accurate imaging is crucial for distinguishing soft tissue mass origins.</p><p><strong>Case presentation: </strong>A 32 weeks 6 days pregnant Caucasian woman was admitted after premature prelabor rupture of membranes (PPROM). Fetal ultrasound showed no abnormalities, the infant was born by a caesarean section. The delivery was complicated by the infant's transverse position. A female infant was born with a large left-sided dorsal soft tissue mass at the thoracic level with elastic consistency, and multiple skin lacerations. A broad differential diagnosis was made. Additional imaging was suggestive for a posttraumatic swelling due to transverse position during birth. The mass decreased and disappeared over three days.</p><p><strong>Conclusions: </strong>The diagnosis of a soft tissue mass in a newborn can be challenging. A birth-related trauma affecting the soft tissue should be considered, especially if prenatal ultrasound findings were normal. Malpresentation during birth is a significant risk factor. Accurate diagnostic imaging is important to do before conducting further diagnostic examinations. The time course of the mass, before and after birth, can aid in determining its origin.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"17 1","pages":"20230009"},"PeriodicalIF":0.1,"publicationDate":"2023-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11616975/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90279654","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neonatal stridor presents at home - vocal fold paralysis as rare presenting feature of CHARGE syndrome. 新生儿喘鸣在家中表现为声带麻痹,是CHARGE综合征罕见的表现特征
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2023-05-05 eCollection Date: 2023-01-01 DOI: 10.1515/crpm-2022-0033
Sierra S Donnell, Megan K Kraemer, Suhagi M Kadakia
{"title":"Neonatal stridor presents at home - vocal fold paralysis as rare presenting feature of CHARGE syndrome.","authors":"Sierra S Donnell, Megan K Kraemer, Suhagi M Kadakia","doi":"10.1515/crpm-2022-0033","DOIUrl":"10.1515/crpm-2022-0033","url":null,"abstract":"<p><strong>Objectives: </strong>To present an unusual presentation and diagnosis of CHARGE syndrome with vocal fold paralysis, a rarely associated congenital laryngeal anomaly, as the presenting feature.</p><p><strong>Case presentation: </strong>A four-day old, full-term, male infant born via uncomplicated vaginal delivery with a nursery course significant for failed hearing screen presented to an emergency department (ED) with respiratory distress and worsening stridor. He was transferred to a level III neonatal intensive care unit (NICU) for further evaluation and required intubation due to progressive hypercarbia. Laryngoscopy revealed left-sided unilateral vocal fold paralysis (VFP). He underwent further evaluation that included a normal MRI brain, neck and chest. Genetics was consulted with concern for dysmorphic features on physical exam. Following gene panel testing, VFP was attributed to known association with CHARGE syndrome. Airway edema was noted on laryngoscopy that prevented extubation until two months of age. Further features of CHARGE syndrome identified included colobomas, glaucoma, sensorineural hearing loss, and genital abnormalities. He was discharged in room air and following gastrostomy tube placement with otolaryngology follow up.</p><p><strong>Conclusions: </strong>Although choanal abnormalities are classically associated with CHARGE syndrome, other upper airway anomalies such as VFP may be present. VFP is a rarely reported anomaly in association with CHARGE syndrome (Naito Y, Higuchi M, Koinuma G, Aramaki M, Takahashi T, Kosaki K. Upper airway obstruction in neonates and infants with CHARGE syndrome. Am J Med Genet 2007;143A:1815-20; Morgan D, Bailey M, Phelps P, Bellman S, Grace A, Wyse R. Ear-nose-throat abnormalities in the CHARGE association. Arch Otolaryngol Head Neck Surg 1993;119:49-54).</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"156 1","pages":"20220033"},"PeriodicalIF":0.1,"publicationDate":"2023-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11616543/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72949791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The new frontier: a case for whole exome sequencing with multiple fetal anomalies. 新前沿:一例全外显子组测序与多个胎儿异常
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2023-05-04 eCollection Date: 2023-01-01 DOI: 10.1515/crpm-2022-0032
Jenny Y Mei, Lila Dayani, Lawrence D Platt
{"title":"The new frontier: a case for whole exome sequencing with multiple fetal anomalies.","authors":"Jenny Y Mei, Lila Dayani, Lawrence D Platt","doi":"10.1515/crpm-2022-0032","DOIUrl":"10.1515/crpm-2022-0032","url":null,"abstract":"<p><strong>Objectives: </strong>Standard genetic testing can fail to identify an underlying genetic etiology in pregnancies affected by multiple fetal abnormalities. Recently, whole exome sequencing (WES) studies have shown promise in recognizing genetic diagnoses where standard genetic testing does not yield answers.</p><p><strong>Case presentation: </strong>A 35-year-old G1P0 healthy female found at anatomy scan to have multiple fetal anomalies, including severe bilateral ventriculomegaly, renal pyelectasis, and short long bones. Karyotype and microarray were normal. Whole exome sequencing showed the fetus was compound heterozygous for likely pathogenic variants in the ROBO1 gene.</p><p><strong>Conclusions: </strong>In the presence of multiple fetal anomalies with normal karyotype and microarray, whole exome sequencing should be considered to not only provide answers for the affected parents, but also aid in future pregnancy planning.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"6 1 1","pages":"20220032"},"PeriodicalIF":0.1,"publicationDate":"2023-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11616545/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76898134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Staying alert with polyhydramnios; an Ondine syndrome case. 羊水过多时保持警惕;1例Ondine综合征
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2023-04-27 eCollection Date: 2023-01-01 DOI: 10.1515/crpm-2022-0026
Maria Pellisé-Tintoré, Anna Lucia Paltrinieri, Anna Abulí, Elena Murillo, Ariana Serrano, Gerard Albaigés
{"title":"Staying alert with polyhydramnios; an Ondine syndrome case.","authors":"Maria Pellisé-Tintoré, Anna Lucia Paltrinieri, Anna Abulí, Elena Murillo, Ariana Serrano, Gerard Albaigés","doi":"10.1515/crpm-2022-0026","DOIUrl":"10.1515/crpm-2022-0026","url":null,"abstract":"<p><strong>Objectives: </strong>Amniotic fluid is essential for proper fetal development. In the case of severe polyhydramnios associated with low fetal growth, a number of different underlying disorders must be considered. One such condition is congenital central hypoventilation syndrome (CCHS) or Ondine's curse, a rare genetic disease caused by mutation of the PHOX2B gene. The incidence of CCHS is estimated to be 1 case in 200,000 live births. No publications have been made to date on the intrauterine period findings. This precludes an early intrauterine diagnosis and impedes ethically responsible therapeutic options.</p><p><strong>Case presentation: </strong>A 37-year-old patient presented in her second pregnancy with a small for gestation fetus and severe polyhydramnios evidenced in the third trimester ultrasound (US) study. There were no previous signs of maternal diabetes or fetal abnormalities at US. During the immediate postpartum period, the newborn presented repeated apneas with cyanosis and hypo-responsiveness. Neonatal arterial blood gas testing revealed severe respiratory acidosis requiring orotracheal intubation and admission to the Neonatal Intensive Care Unit. Over the following days, all imaging and functional test findings were within normal ranges. A <i>de novo</i> pathogenic PHOX2B variant was identified.</p><p><strong>Conclusions: </strong>Despite a high mortality rate, no neurological sequelae or other systemic diseases were recorded, thanks to multidisciplinary and coordinated follow-up.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"9 1","pages":"20220026"},"PeriodicalIF":0.1,"publicationDate":"2023-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11616546/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78255601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Spontaneous cerebrospinal fluid rhinorrhoea during pregnancy-case report and review of literature. 妊娠期自发性脑脊液鼻漏1例报告及文献复习
IF 0.1
Case Reports in Perinatal Medicine Pub Date : 2023-04-17 eCollection Date: 2023-01-01 DOI: 10.1515/crpm-2023-0006
Alma Mackert, Xezal Derin, Parwis Agha-Mir-Salim, Wolfgang Henrich
{"title":"Spontaneous cerebrospinal fluid rhinorrhoea during pregnancy-case report and review of literature.","authors":"Alma Mackert, Xezal Derin, Parwis Agha-Mir-Salim, Wolfgang Henrich","doi":"10.1515/crpm-2023-0006","DOIUrl":"10.1515/crpm-2023-0006","url":null,"abstract":"<p><strong>Objectives: </strong>Rhinoliquorrhea is a condition where cerebrospinal fluid (CSF) leaks due to a liquor fistula formation of traumatic or non-traumatic origin. It can be associated with increased intracranial pressure often due to idiopathic intracranial hypertension (IIH), typically found in young and obese female patients.</p><p><strong>Case presentation: </strong>A 27-year-old woman, 2 gravida, 1 para, presented with clear rhinorrhoea. After a beta-trace-protein test the diagnosis of CSF leakage was determined. The woman had had a traumatic car accident in 2018 but had never developed clear rhinorrhoea, especially not in her first pregnancy after the accident. Due to stable condition of the mother further diagnostics were postponed until after the birth. An elective caesarean section was performed in 40 + 0 weeks of gestations. The structural bone defect in the posterior wall of the sphenoid sinus was surgically repaired by defect coverage postpartum.</p><p><strong>Conclusions: </strong>Nasal CSF leakage in pregnancy has previously been described in four other case reports with mostly traumatic etiology. Additionally, IIH is an important diagnosis to keep in mind. So far there are no guidelines or evidence-based recommendations regarding to optimal fistula treatment of pregnant women available. For therapy a prophylactic antibiotic therapy, surgical reconstruction with sealing and a wait-and-see strategy should be considered and discussed.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"1 1","pages":"20230006"},"PeriodicalIF":0.1,"publicationDate":"2023-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11616532/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84574225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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