Fetal and Pediatric Pathology最新文献

Background: Skene's glands are the two largest paraurethral glands and the female homologue to the prostate glands. When their ducts become obstructed, cysts may be formed. This usually occurs in adult women. Most cases reported in pediatrics are neonatal, with a single report in a prepubertal girl.

Case report: We present a 25-month-old girl with a 7 mm nontender, solid, oval, pink-orange paraurethral mass, with no change over a five-month period. Histopathology revealed the cyst to be lined with transitional epithelium consistent with a Skene's gland cyst. The child did well with no sequalae.

Conclusion: We describe a Skene's gland cyst found in a prepubertal child.

Background: Myelomeningocele (MMC) causes significant morbidity and mortality. Efforts have been directed to correct this defect in utero. The neuropathology literature on antenatally repaired MMC and associated complications in humans is limited. Case report: A 12-day-old female, who underwent prenatal MMC repair via a two-layer closure (dural replacement patch, primary skin closure), was born at 34 weeks' gestation. Her group B streptococcus positive mother received appropriate antepartum prophylactic antibiotics. She remained stable until day 11 of life when she underwent rapid clinical deterioration. Despite aggressive intervention, she expired on day 12. Review of placental pathology showed maternal and fetal inflammatory response. Autopsy revealed Gram-positive cocci and inflammation within the basilar leptomeninges and lumbosacral region. Neural and dermal elements were present within the MMC repair. Conclusion: This case documents integration of the dermal matrix patch to neural elements, adhering the spinal cord to scar tissue, the clinical implications of which remain unclear.

Objective: To investigate the clinicopathological features of children with Sturge-Weber syndrome and to analyze the correlation between the distribution area of leptomeningeal angiomatosis, the degree of cerebral cortical calcification, and the degree of cerebral atrophy associated with epileptic seizures. Methods: 10 children were diagnosed with SWS with FCD IIIc by histopathology and immunohistochemistry. Spearman correlation analysis was used to calculate the association of SWS with FCD IIIc and seizures in children. Results: The leptomeningeal angiomatosis area was markedly positively correlated with the degree of brain atrophy in 10 children with SWS (r = 0.783, p = 0.007). The distribution of leptomeningeal hemangiomatosis, the degree of cortical calcification, and brain atrophy were not significantly correlated with epilepsy. Conclusion: SWS may be accompanied by FCD IIIc. The more extensive the cerebral lobes of leptomeningeal angiomatosis in SWS, the more pronounced the brain atrophy.

Background: VACTERL association consists of Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal, and Limb defects. The diagnosis depends on the presence of at least three of these structural abnormalities. Methods: The clinical presentation and diagnostic prenatal imaging of VACTERL association are comprehensively reviewed. Results: The most common feature is a vertebral anomaly, found in 60-80% of cases. Tracheo-esophageal fistula is seen in 50-80% of cases and renal malformations in 30% of patients. Limb defects including thumb aplasia/hypoplasia, polydactyly, and radial agenesis/hypoplasia are present in 40-50% of cases. Anorectal defects, like imperforate anus/anal atresia, are challenging to detect prenatally. Conclusion: The diagnosis of VACTERL association mostly relies on imaging techniques such as ultrasound, computed tomography, and magnetic resonance. Differential diagnosis should exclude similar diseases such as CHARGE and Townes-Brocks syndromes and Fanconi anemia. New insights into genetic etiology have led to recommendations of chromosomal breakage investigation for optimal diagnosis and counseling.

Introduction: We investigated the relationship between 25-hydroxyvitamin D (25-OHD) levels and the development of hemodynamically significant patent ductus arteriosus (hsPDA) in preterm infants.

Methods: Newborns having a gestational age (GA) of ≤32 weeks with hsPDA consisted the study group (n = 25, 20%), while newborns ≤32 weeks of GA without PDA/hsPDA were the control group (n = 97, 80%).

Results: The study group had lower GA, birth weight (BW) and 25-OHD levels (p < 0.0001, p = 0.002 and p = 0.003, respectively). After adjusting for the effects of GA, BW and the presence of respiratory distress syndrome, multivariable logistic regression analyses demonstrated that preterm infants with low 25-OHD levels were 6.407 (95% CI: 1.656-24.788, p = 0.007) times more likely to experience hsPDA than preterm infants with normal 25-OHD levels. Every 1 ng/mL increase in 25-OHD levels decreased the probability of hsPDA (OR: 0.894, 95% CI: 0.816-0.98, p = 0.016). Conclusion: Low 25-OHD levels may have a role in the development of hsPDA.

Background: Congenital epulis is a benign gingival tumor whose differential diagnosis includes other oral-facial masses such as teratoma, hemangioma, lymphatic malformation and dermoid cysts. This tumor can cause obstruction of the airway or feeding problems in the newborn. Surgical excision is the treatment of choice. Case Report: We present a case of congenital epulis, diagnosed prenatally with ultrasonography. Conclusion: Although difficult, a defined prenatal image of congenital epulis is possible by means of accurate high-resolution ultrasonography. It facilitates the narrowing down of differential diagnosis. The confirmatory final diagnosis relies on histopathological examination.

Objective: We assessed the frequency and type of associated congenital anomalies encountered with fetal tethered spinal cord (TSC) determined prenatally.

Method: A retrospective review was conducted based on the associated fetal abnormalities following diagnosis of low-lying fetal conus medullaris during the prenatal ultrasound.

Results: Of the 26 fetuses with low-lying conus medullaris, four were solitary TSC and 22 had TSC combined with associated congenital malformations, including four cases with spina bifida occulta, four cases with spina bifida aperta, one case with severe hydrocephalus, and 13 cases with multisystem congenital malformations. Among all the 13 cases with combined multisystem congenital malformations, four cases had vertebral defects, anal anomalies, cardiac defects, trachea-esophageal fistula, renal anomalies, and limb anomalies (VACTERL) syndrome, two cases had combined kidney development abnormalities, one case had cloacal exstrophy (OEIS syndrome), and six cases had chromosomal abnormalities (one case of chromosome 7q deletion, two cases of trisomy 13 syndrome, one case of trisomy 18 syndrome, one case of trisomy 9 syndrome, and one case of chromosome 4p deletion).

Conclusions: Low-lying conus medullaris found during prenatal ultrasound examination were often associated with neural tube malformations or multi-systemic complex developmental malformations. The frequency of chromosomal abnormalities was 23.1%.

Objectives: To analyse the trends in thyroid function tests (TFT) in preterm infants, evaluate the frequency of thyroid dysfunction, and identify the factors that influence thyroid function.

Methods: The TFT results and risk factors for thyroid dysfunction in preterm infants with gestational ages (GA) between 25 and 34 weeks were analysed.

Results: In total, 535 infants were enrolled in this study. Thyroid hormone levels vary with gestational and postnatal age, and the total frequency of thyroid dysfunction is 50.3%. Thirty-one infants (5.8%) had delayed TSH elevation. Transient hypothyroxinaemia of prematurity remained significantly associated with both lower birth weight and GA. Congenital hypothyroidism was significantly associated with lower birth weight, 5 min Apgar score, and dopamine use.

Conclusions: Thyroid hormone levels in preterm infants are related to gestation and postnatal age, the frequency of thyroid dysfunction in premature infants is high, and is negatively correlated with GA and birth weight.

Background: In cases of intrauterine fetal death (IUFD), autopsy and placenta pathology can provide additional information to sonographic findings. We assessed the frequency of prenatally missed relevant diagnoses. Materials and methods: A retrospective evaluation of fetal autopsies from 2006 to 2021 was performed and were classified as: i) agreement, ii) cases where autopsy revealed additional findings, or iii) postmortem findings which changed the diagnosis. Results: A total of 199/251 spontaneous IUFD and 52/251 induced abortions were included. In spontaneous IUFD, placenta pathologies were the leading cause of death (89%). Full agreement was found in most cases (91% and 87% in spontaneous IUFD and induced abortion, respectively), while additional findings (7% and 12%) and major discrepancies (each 2%) were detected less frequently. Conclusion: In some cases where major findings were missed, autopsy could establish a diagnosis.

Background: Branchial cleft cysts or fistulae are common in pediatric surgical pathology and are cured by surgery. Lesions in this area may not show the classical features of a cyst or duct lined by squamous or respiratory epithelium and other differential diagnoses should be considered. Case report: A seven-year-old otherwise healthy boy presented with bilateral swelling of the lower neck and reported intermittent secretion of clear fluid on the right side. Excision of the right sided lesion revealed an ectopic salivary gland, the excision of the left showed only subtle fibrosis. Conclusion: Ectopic salivary glands may occur in the distribution of branchial cleft remnants. Clear fluid drainage (saliva) may be a clinical clue that these are not branchial cleft cremnants.