Case Reports in Perinatal Medicine最新文献

Objectives: 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.

Case presentation: 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.

Conclusions: 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.

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.

Objectives: Fetus-in-fetu is a rare congenital anomaly that occur secondary to abnormal embryogenesis in a diamniotic monochorionic pregnancy. Its diagnosis can be accurately made by imaging ultrasonography, radiography, computed tomography, or magnetic resonance imaging. Differential diagnosis is an important issue because FIF, teratoma and cystic meconium peritonitis are very different in terms of their respective disease courses.

Case presentation: This is an interesting rare case of a 22-year-old pregnancy woman, presented for a routine antenatal ultrasound. The diagnosis of a fetus-in-fetu was suspected, complete surgical excision of the lesion was performed and the diagnosis was histopathologically confirmed.

Conclusions: We describe also the common characteristic of FIF as revealed by prenatal and postnatal US, postnatal MRI, and the operative findings.

Objectives: Fraser syndrome is a rare congenital malformation characterized by cryptophthalmos, syndactyly and urogenital tract malformations. The association with hydrometrocolpos is infrequent, with only a few cases reported in the literature.

Case presentation: A 19-year-old primigravida presenting at 35 weeks of gestation, with prenatal finding of hydrometrocolpos associated with hypotelorism and microphthalmia. Pre-term cesarean delivery was performed due to breech labor and perinatal death. The autopsy confirmed hydrometrocolpos secondary to vaginal atresia and imperforate hymen, associated with cryptophthalmos, syndactyly, nasal and pinna malformations, confirming the diagnosis of Fraser syndrome.

Conclusions: Fraser syndrome is usually a postnatal diagnosis. The association with genital abnormalities explains the finding of hydrometrocolpos, which could be considered a diagnostic criterion for this syndrome.

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.

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.

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.

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.