Case Reports in Perinatal Medicine最新文献_第2页

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

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Case Reports in Perinatal Medicine Pub Date : 2023-01-01 DOI: 10.1515/crpm-2023-0013

Z. Fasoulakis, M. Chatziioannou, Antonios Koutras, M. Theodora, Afroditi Pegkou, Andreas Pampanos, George Daskalakis, P. Antsaklis

引用次数: 0

An unexpected case of neonatal compartment syndrome associated with congenital anomalies of kidney and urinary tract 一个意外的病例新生儿室综合征与先天性异常的肾脏和泌尿道

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Case Reports in Perinatal Medicine Pub Date : 2023-01-01 DOI: 10.1515/crpm-2022-0020

Laura M. Seske, M. Mastroianni, Keith T. Aziz, Laura W. Lewallen

{"title":"An unexpected case of neonatal compartment syndrome associated with congenital anomalies of kidney and urinary tract","authors":"Laura M. Seske, M. Mastroianni, Keith T. Aziz, Laura W. Lewallen","doi":"10.1515/crpm-2022-0020","DOIUrl":"https://doi.org/10.1515/crpm-2022-0020","url":null,"abstract":"Abstract Objectives Neonatal compartment syndrome (NCS) occurs when increased pressure within the fasciocutaneous compartment decreases capillary perfusion, causing irreversible tissue damage from ischemia. NCS is a rare condition that requires prompt diagnosis and treatment. Diagnosing NCS is highly dependent on the examination, which can be difficult in newborns. Prompt recognition provides the best chance for good outcomes. Case presentation We present a case of NCS diagnosed and treated based on physical examination findings. Fetal ultrasonography showed bladder distension, bilateral hydroceles, urethra dilation, and abdominal urinary ascites concerning for lower urinary tract obstruction and possible bladder rupture. At 1 h after birth, examination of the infant’s left upper extremity showed no spontaneous movement, the hand and forearm appeared dusky, and the hand had a large blister with desquamation. No pulse distal to the antecubital fossa was detected via Doppler ultrasonography. The infant was diagnosed with NCS and underwent urgent fasciotomy. The clinical appearance and perfusion of the left upper extremity gradually improved. At four months of age, the wounds were healed and the patient had full passive range of motion of the left upper extremity. Recovery of active motion is ongoing. Conclusions The presence of blistering and desquamation should provoke suspicion for NCS. Once NCS is diagnosed, prompt intervention is necessary to reduce the risk of poor functional outcomes. This case highlights the need for increased awareness of the risk developing compartment syndrome in utero as part of the rare sequalae in infants with congenital anomalies of kidney and urinary tract.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78647297","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}

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

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Case Reports in Perinatal Medicine Pub Date : 2023-01-01 DOI: 10.1515/crpm-2022-0026

Maria Pellisé-Tintoré, A. Paltrinieri, A. Abulí, E. Murillo, Ariana Serrano, G. Albaigés

{"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":null,"pages":null},"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}

引用次数: 1

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

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Case Reports in Perinatal Medicine Pub Date : 2023-01-01 DOI: 10.1515/crpm-2022-0033

Sierra S. Donnell, Megan Kraemer, Suhagi Kadakia

{"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":null,"pages":null},"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}

引用次数: 0

A case of preeclampsia with severe features following septic shock and drug-induced acute kidney injury 感染性休克及药物性急性肾损伤后有严重特征的先兆子痫1例

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Case Reports in Perinatal Medicine Pub Date : 2023-01-01 DOI: 10.1515/crpm-2021-0093

Emily M. Boyd, M. Nguyen, Brian Gordon, Richard H. Lee

{"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":null,"pages":null},"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}

引用次数: 1

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

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Case Reports in Perinatal Medicine Pub Date : 2023-01-01 DOI: 10.1515/crpm-2022-0032

Jenny Y. Mei, L. Dayani, L. Platt

引用次数: 0

Antenatal and histological diagnostics of cystic sacrococcygeal teratoma. Clinical case and literature review 囊性骶尾畸胎瘤的产前和组织学诊断。临床病例及文献复习

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Case Reports in Perinatal Medicine Pub Date : 2023-01-01 DOI: 10.1515/crpm-2022-0025

E. Savukynė, S. Krzconaviciute, Marija Vaitkeviciute, E. Machtejevienė, Ieva Rubaviciute

{"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":null,"pages":null},"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}

引用次数: 0

Hemorrhagic adenovirus cystitis in a newborn 新生儿出血性腺病毒膀胱炎

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Case Reports in Perinatal Medicine Pub Date : 2022-12-30 DOI: 10.1515/crpm-2022-0018

Susana M. D. Alexandre, C. Matos, Fabiana Fortunato, Ana Rita Sandes

{"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":null,"pages":null},"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}

引用次数: 0

Donohue syndrome in an Egyptian infant: a case report 埃及婴儿Donohue综合征1例报告

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Case Reports in Perinatal Medicine Pub Date : 2022-12-28 DOI: 10.1515/crpm-2021-0087

Kotb Abbass Metwalley, H. Farghaly, Lamiaa Mahmood Maxi

引用次数: 0

A case of intra-vaginal intrauterine testicular torsion 阴道内宫内睾丸扭转1例

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Case Reports in Perinatal Medicine Pub Date : 2022-12-20 DOI: 10.1515/crpm-2022-0013

Murad Habib, M. Amjad, Mansoor Ahmed

{"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":null,"pages":null},"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}

引用次数: 0