Case Reports in Perinatal Medicine最新文献

{"title":"Birth-related soft tissue injury due to transverse malpresentation at delivery: a case report","authors":"Celine Rohaert, A. Poleij, Chantal Quispel, M. de Jong, P. Ciet, Florian Cassel","doi":"10.1515/crpm-2023-0009","DOIUrl":"https://doi.org/10.1515/crpm-2023-0009","url":null,"abstract":"Abstract Objectives 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. Case presentation 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. Conclusions 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.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"17 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90279654","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Staying alert with polyhydramnios; an Ondine syndrome case","authors":"Maria Pellisé-Tintoré, A. Paltrinieri, A. Abulí, E. Murillo, Ariana Serrano, G. Albaigés","doi":"10.1515/crpm-2022-0026","DOIUrl":"https://doi.org/10.1515/crpm-2022-0026","url":null,"abstract":"Abstract Objectives 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. Case presentation 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 de novo pathogenic PHOX2B variant was identified. Conclusions Despite a high mortality rate, no neurological sequelae or other systemic diseases were recorded, thanks to multidisciplinary and coordinated follow-up.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"9 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78255601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neonatal stridor presents at home – vocal fold paralysis as rare presenting feature of CHARGE syndrome","authors":"Sierra S. Donnell, Megan Kraemer, Suhagi Kadakia","doi":"10.1515/crpm-2022-0033","DOIUrl":"https://doi.org/10.1515/crpm-2022-0033","url":null,"abstract":"Abstract Objectives To present an unusual presentation and diagnosis of CHARGE syndrome with vocal fold paralysis, a rarely associated congenital laryngeal anomaly, as the presenting feature. Case presentation 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. Conclusions 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).","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"156 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72949791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of preeclampsia with severe features following septic shock and drug-induced acute kidney injury","authors":"Emily M. Boyd, M. Nguyen, Brian Gordon, Richard H. Lee","doi":"10.1515/crpm-2021-0093","DOIUrl":"https://doi.org/10.1515/crpm-2021-0093","url":null,"abstract":"Abstract Objectives This article outlines a process for differentiating preeclampsia from other potential causes of end-organ damage in a critically ill patient. Case Presentation A patient in her early 30s, G2P1001 with intrauterine pregnancy at 12 weeks’ gestation was admitted seven months after delivering her first child due to new-onset psychosis and starvation ketosis. She was started on lithium for postpartum psychosis at 20 weeks’ gestation. She subsequently developed respiratory failure at 26 weeks’ gestation due to aspiration pneumonia in the setting of lithium toxicity, requiring admission to the intensive care unit (ICU) and intubation. She received antibiotics and vasopressors for suspected septic shock in addition to dialysis for lithium-induced acute kidney injury. One week after ICU admission, her sepsis resolved, her serum creatinine levels returned to normal, and her respiratory status improved. However, after vasopressors were discontinued, she suddenly developed persistently elevated blood pressures with proteinuria and elevated liver function tests (LFT’s). Due to concern for preeclampsia with severe features and rapidly increasing LFT’s, the patient underwent cesarean delivery at 27 weeks’ gestation. Conclusions In a critically ill patient with multiple comorbidities, it can be difficult to diagnose preeclampsia using the standard criteria. It is important to exclude other potential etiologies, as a misdiagnosis can have potentially devastating consequences.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"3 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87265318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The new frontier: a case for whole exome sequencing with multiple fetal anomalies","authors":"Jenny Y. Mei, L. Dayani, L. Platt","doi":"10.1515/crpm-2022-0032","DOIUrl":"https://doi.org/10.1515/crpm-2022-0032","url":null,"abstract":"Abstract Objectives 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. Case presentation 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. Conclusions 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.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"6 1 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76898134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Antenatal and histological diagnostics of cystic sacrococcygeal teratoma. Clinical case and literature review","authors":"E. Savukynė, S. Krzconaviciute, Marija Vaitkeviciute, E. Machtejevienė, Ieva Rubaviciute","doi":"10.1515/crpm-2022-0025","DOIUrl":"https://doi.org/10.1515/crpm-2022-0025","url":null,"abstract":"Abstract Objectives The congenital embryonic tumor known as sacrococcygeal teratoma (SCT) affects 1 in 35.000–40.000 newborns and is more prevalent in female fetuses and neonates. A total of 25–50% of SCTs are diagnosed by an ultrasound (US) examination during the second trimester of pregnancy. Planning the manner of delivery, determining the risk of negative outcomes, and choosing treatment options depend on the results of antenatal differential diagnosis. Case presentation This is a unique case of a 29-year-old second gravida, suspected of having a fetal sacrococcygeal dysplasia differentiable between Type 2 SCT and terminal myelocystocele. An MRI revealed no typical SCT changes, as a matter of course, the diagnosis of myelocystocele could not have been excluded. The results of the genetic examination allowed to exclude the chromosomal pathology. Punctuation of the external component of the formation and a cytological examination were suggested. Nevertheless, the patient and her partner refused further studies and insisted on the termination of pregnancy. Medical abortion was induced and histological findings confirmed fetal morphology to be mature SCT. Conclusions Cystic sacrococcygeal teratoma is an unusual malformation of fetal development. In the antenatal period SCT is diagnosed based upon an ultrasound evaluation, an MRI, and a multidisciplinary assessment of clinical experts. Differential diagnosis based upon clinical imaging during the gestational period is elaborate. The final medical diagnosis needs to be verified by a histological evaluation of pathological tissue. An antenatal medical diagnosis of fetal dysplasia is considerable for the further prognosis of fetal and newborn development.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"24 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78176358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hemorrhagic adenovirus cystitis in a newborn","authors":"Susana M. D. Alexandre, C. Matos, Fabiana Fortunato, Ana Rita Sandes","doi":"10.1515/crpm-2022-0018","DOIUrl":"https://doi.org/10.1515/crpm-2022-0018","url":null,"abstract":"Abstract Objectives Gross hematuria is rare in the neonate and requires prompt etiology evaluation and intervention. This article aims to draw attention to adenovirus as a cause of hematuria in newborns. Case presentation We present the case of a newborn admitted to the neonatal unit after birth with respiratory distress. Empiric treatment with ampicillin and gentamicin was initiated. He presented a favorable clinical and laboratory course with decreasing inflammatory parameters. On day 7 gross hematuria was detected and the urinalysis revealed red blood cells, trace of proteins and leukocytes. Cefotaxime was added after urine and blood cultures. Doppler ultrasound showed bladder sediment with no signs of renal venous thrombosis and the cultures were negative. There was a progressive improvement of gross hematuria with resolution on day 16. Urine adenovirus PCR was positive and the diagnosis of adenovirus hemorrhagic cystitis was made. Conclusions Adenovirus should be considered as a potential etiology if clinical symptoms and urinalysis are suggestive of infection, but the urine culture is negative and ensuring that all other possible causes of hematuria are ruled of. As far as the authors know, this is the first case report of a newborn with adenovirus hemorrhagic cystitis.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"12 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85644500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Donohue syndrome in an Egyptian infant: a case report","authors":"Kotb Abbass Metwalley, H. Farghaly, Lamiaa Mahmood Maxi","doi":"10.1515/crpm-2021-0087","DOIUrl":"https://doi.org/10.1515/crpm-2021-0087","url":null,"abstract":"Abstract Objectives We aim to report a case of Donohue syndrome (DS) which is a rare genetically encoded, autosomal inherited recessive disorder linked with severe insulin-resistant diabetes. Case presentation We hereby report a case of a 4 month -old girl infant with DS. The patient exhibited dysmorphic facial features, severe growth retardation, fasting hypoglycemia, postprandial hyperglycemia, and hyperinsulinemia which are the hallmarks of DS. The diagnosis of DS was confirmed by genetic analysis. The patient was treated with high-dose insulin and frequent nasogastric formula milk feeding to achieve reasonable glycemic control. Conclusions We reported a typical case of DS in a 4-month-old female infant characterized by peculiar dysmorphic features and failure to thrive. She also fulfilled the biochemical criteria of fasting hypoglycemia, postprandial hyperglycemia, and severe hyperinsulinemia. The diagnosis was confirmed by a molecular genetic study. Our patient achieved reasonable glycemic control after treatment with high-dose insulin.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"165 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86250738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of intra-vaginal intrauterine testicular torsion","authors":"Murad Habib, M. Amjad, Mansoor Ahmed","doi":"10.1515/crpm-2022-0013","DOIUrl":"https://doi.org/10.1515/crpm-2022-0013","url":null,"abstract":"Abstract Objectives Intrauterine testicular torsion is extremely rare and the exact cause remains largely unknown. It is the result of an ischemic insult intrauterine, which presents as either extra-vaginal or intravaginal testicular torsion. Urgent surgical exploration and fixating the contralateral testis is key in the management of this condition. Case presentation We present here the case of a two-day old neonate with in-born right scrotal swelling admitted at Children’s hospital. The patient was born at term via cesarean section at a private hospital. Upon arrival in the emergency department, he was well hydrated, pink at room temperature with good perfusion. Upon examination, the right testis was found to be enlarged, tense, non-tender visibly reddish with overlying skin excoriation. Trans-illumination was negative in right but positive in the contralateral testis. Both hernial orifices were normal. Doppler ultrasound of the inguinoscrotal area found the right testis to be enlarged (15.6*9.4 mm) and showed heterogeneous hypoechoic texture with prominent rete testis and no flow on color doppler analysis. An urgent scrotal exploration was undertaken. Intra-operatively there was frank necrotic right testis with intravaginal torsion of the testis and minimal hydrocele. A right orchidectomy and contralateral orchidopexy were performed. Conclusions Intrauterine testicular torsion should be treated as a surgical emergency. We advocate early recognition of intrauterine testicular torsion, alongside surgical exploration and simultaneous contralateral orchidopexy.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"73 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83722110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treacher Collins syndrome – a case report","authors":"Magda Fraszczyk-Tousty, A. Jankowska, J. Tousty, Piotr Tousty, B. Łoniewska","doi":"10.1515/crpm-2020-0009","DOIUrl":"https://doi.org/10.1515/crpm-2020-0009","url":null,"abstract":"Abstract Objectives Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis and Franceschetti-Zwahlen- Klein syndrome, is an autosomal dominant disorder of soft tissue and the craniofacial bones. In most cases, TCS is the result of a mutation in the TCOF1 gene. The incidence is estimated to be between 1/10,000 and 1/50,000 live births. Our purpose was to describe a case report of patient with TCS born in the Department of Neonatology at the Pomeranian Medical University in Szczecin (Poland) and his family with short review of literature. Case presentation Clinical abnormalities which were found after birth mainly affect the head – hypoplasia of the cheek bones and the zygomatic bones, micrognation, deformed auricles with undeveloped external auditory canals, retrognathia of the mandible, cleft hard and soft palate and narrow palpebral fissure. Conclusions The treatment of children with TCS is long-term. Patients require a series of reconstructive and plastic surgical procedures. Our patient presented the complete form of TCS. There are multiple surgeries awaiting him, which, eventually, will improve his quality of life.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"64 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85675632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}