To discuss prenatal ultrasonographic characteristics of placental lake-like lesions and the significance of prenatal diagnosis of these lesions.
Six patients with prenatal placental lake-like lesions (maximal diameter>5 cm) detected by ultrasound were selected from Beijing Obstetrics and Gynecology Hospital, Capital Medical University from February 2016 to December 2021. Their demographic data, ultrasound features, clinical diagnoses and pregnancy outcomes were retrospectively analyzed.
All the patients had a singleton pregnancy, aged 27-33 years at diagnosis, and were initially found with placental lake-like lesions at 18 weeks and two days of pregnancy to 31 weeks and 6 days of pregnancy. Lake-like lesions with clear margins with placenta were detected by ultrasound in cases 1, 2 and 3, all of them were clinically diagnosed with massive subchorionic hematoma (MSH) , then underwent ceserean section at less than 34 weeks but greater than 33 weeks of pregnancy, less than 30 weeks but greater than 29 weeks of pregnancy, and 32 weeks of pregnancy, respectively, and all of 3 neonates had hypospadias. In case 4, a lake-like lesion with definite border protruding into amniotic cavity was found, which spontaneously disappeared in minutes. Fetal growth was unremarkable during pregnancy. In follow-up, the lesion was decreased significantly. Final diagnosis was real large placental lake. In cases 5 and 6, lake-like lesions diffusely involved most part of placenta, with decreased normal placental tissues. Both cases were complicated by early-onset fetal growth restriction (all biometric parameters<1%, abdominal circumference 2.3%) . Absence of diastolic flow in umbilical artery and notches in uterine arteries (bilateral, unilateral) were found in ultrasound examinations in both cases. Case 5 chose to terminate pregnancy at 23 weeks of pregnancy, and case 6, who was also complicated by preeclampsia, terminated pregnancy at less than 28 weeks but greater than 27 weeks of pregnancy. Clinical diagnosis for both of them was maternal vascular malperfusion (MVM) with early-onset FGR.
Placental lake-like lesions can be caused by different etiologies. Each type can be differentiated according to ultrasound characteristics. Timely prenatal diagnosis by ultrasound will benefit close monitoring of fetal status in MSH and MVM cases to prevent negative pregnancy outcomes.
Intrauterine purulent infection is a severe pelvic inflammatory disease, which manifests as fever, abdominal pain, and increased vaginal secretions. Discitis is an infectious disease which may both affect the intervertebral disc space and the adjacent vertebrae or cartilage plate. Due to the absence of typical symptoms and signs, the clinical diagnosis of this disease may be delayed until damaged pyramidal bone and decreased lower-limb muscle strength. We reported a case of lumbar discitis caused by intrauterine purulent infection after removing the intrauterine contraceptive ring, presenting with low back pain with walking disorder, then conducted a literature review to deepen the understanding of the pathogens, routes of infection transmission, diagnostic criteria, treatment principles and serious adverse consequences of pelvic inflammatory disease. For nonspecific intervertebral discitis, clinicians should carefully ask for the medical history and the progression of the disease, in addition to laboratory and imaging tests. It is especially important to make a diagnosis and perform the surgery in time.
Acute abdominal pain is one of the most common chief complaints in medical emergencies. Due to atypical clinical manifestations, the misdiagnosis rate of acute abdominal pain caused by vascular diseases is high.
To assess the value of the checklist of abdominal pain causes in the differential diagnosis of vascular diseases with abdominal pain as a presentation.
In accordance with the five diseases (localized organic disease, heart, lung and spine diseases, systemic disease, functional disorders, gynecological disease) with abdominal pain as a manifestation in the checklist of abdominal pain causes, we analyzed the causes of abdominal pain in three patients with acute atypical abdominal pain as the main manifestation for making a proper diagnosis, then assessed the practicability of the checklist in the diagnosis of vascular diseases.
With the help of the checklist, the time used for diagnosing one patient with acute renal infarction, one with aortic dissection, and the other with pulmonary embolism was 1.5, 1.5, 1.75 hours, respectively. All the patients received timely diagnosis and treatment.
The checklist is helpful to the differential diagnosis of vascular abdominal pain, making a rapid clinical diagnosis, and forming a systematic diagnostic thinking mode.
Clinical Management and Genetic Features of 3 Cases of Shwachman-Diamond Syndrome
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive genetic disease that has complex and various clinical presentations. With the increase in application and clinical sensitivity of genome sequencing, the diagnoses of SDS in children and adults using genome sequencing have increased significantly, but most Chinese SDS patients have not received systematic and standardized treatment after diagnosis.
To analyze the clinical characteristics, diagnosis and treatment of three children with SDS, expecting to improve clinicians' recognition of this disease, reduce the possibilities of missed diagnosis and misdiagnosis, and standardize the treatment of diagnosed children.
Data of three children with SDS were collected from Department of Pediatrics, Peking University First Hospital from October 2018 to October 2020, including clinical manifestations, laboratory examination, gene analysis, treatment and follow-up, and were analyzed. In combination with the review of other relevant literature, the diagnosis and treatment of pediatric cases of SDS were summarized.
Among the three cases encountered and treated by us, two were female and one was male. All of them had recurrent infection, fatty diarrhea, short stature and malnutrition. Case 2 also had syndactyly. Auxiliary tests suggested that all these cases had neutropenia and abnormal liver function. Besides that, case 1 also had severe anemia, and case 2 had thrombocytopenia. Two compound heterozygous mutations of SBDS gene, that is, c.258 + 2T>C and c.184A>T, were found in all three cases. For treatment, all three patients were given pancreatic enzyme replacement therapy, nutritional support, and hepatoprotective treatment. The anemia of case 1, which was dependent on suspended red blood cell transfusion, was obviously improved after low-dose prednisone treatment.
SDS is a disease with multiple systems involved. Gene detection is helpful to the early diagnosis of SDS. Comprehensive, multidisciplinary treatment is needed. Hematopoietic stem cell transplantation with reduced dose pretreatment can improve some clinical manifestations, but the transplantation indications should be strictly controlled. Low dose and short course of glucocorticoid could be used to reduce the dependence on blood products for those with low erythropoiesis and no hematopoietic stem cell transplantation conditions.
