Mana Taweevisit

Hydrops Fetalis in the Stillborn: A Series from the Central Region of Thailand

The purpose of this study was to analyze the cause of hydrops fetalis (HF) among fetal deaths in the central region of Thailand. Autopsy reports diagnosed as HF from 1999 to 2008 at King Chulalongkorn Memorial Hospital were retrieved, and the pathologic findings, clinical information, fetal ultrasonographic studies, and laboratory investigations were reviewed. There were 78 stillborn autopsies during this 10-year period; the mean gestational age was 28 weeks. The causes of fetal hydrops were identified in 88.5%; no cases of immune hydrops were detected. Anemia was the predominant cause of HF (n = 33; 42.2%): related to homozygous α-thalassemia (n = 17; 21.8%), twin-twin transfusion syndrome (n = 8; 10.2%), hemoglobin H (n = 3; 3.8%), lung hemorrhage (n = 1; 1.3%), adrenal hemorrhage (n = 1; 1.3%), and 3 cases of unspecified etiology (3.8%). Other causes of high-output failure included mass lesions resulting in vascular shunting (n = 2; 2.6%) and 1 case each (1.3% each) of maternal diabetes mellitus, intestinal lymphangiectasia, and Beckwith-Wiedemann syndrome. Causes resulting in low-output cardiac failure were congenital heart disease (n = 16; 20.5%) and thoracic space-occupying lesions (n = 7; 9%). The remaining causes included fetal infection (n = 5; 6.4%), congenital abnormalities suggestive of a chromosomal or genetic basis (n = 2; 2.6%), and 1 case (1.3%) of placental vascular thrombosis. Nine cases (11.5%) had no identifiable cause. Thus, the most common cause of HF in this series was homozygous α-thalassemia, reflecting the geographic location of this series.

Massive fetal thrombotic vasculopathy associated with excessively long umbilical cord and fetal demise: case report and literature review.

Both excessively long umbilical cord (ELUC) and fetal thrombotic vasculopathy (FTV) have been associated with adverse perinatal outcomes, in particular, fetal loss and long-term neurological complications. The etiologies of these conditions are unclear and are likely multifactorial. Excessively long umbilical cord has been associated with FTV and fetal demise, with cases generally showing other cord abnormalities and only localized FTV. We report a 37-week male stillborn fetus whose placenta had a 113-cm-long umbilical cord with no other cord abnormalities associated with “massive” FTV (ie, >25% of the placental mass). This case illustrates the unusual occurrence of FTV of such severe extent in association with ELUC leading to fetal demise. This case illustrates that ELUC alone may be enough to predispose the placenta to massive FTV.

Chronic Histiocytic Intervillositis with Cytomegalovirus Placentitis in a Case of Hydrops Fetalis

Chronic histiocytic intervillositis (CHI) is an infrequent inflammatory placental disorder associated with unfavorable pregnancy outcomes and a high rate of recurrence. This disorder is thought to reflect a maternal delayed hypersensitivity response to fetal antigen(s) in placental tissue. We report a case of a 20-week-gestation hydropic fetus in which the placenta showed chronic histiocytic intervillositis with cytomegalovirus placentitis. Immunophenotyping studies supported a delayed hypersensitivity response. This is the first report of these two diseases co-occurring, raising the possibility of a relationship between chronic histiocytic intervillositis and infection. Chronic histiocytic intervillositis may represent an idiosyncratic immune response, in this case to cytomegalovirus.

Maternal floor infarction associated with oligohydramnios and cystic renal dysplasia: report of 2 cases.

Maternal floor infarction (MFI) is an unusual, idiopathic placental disorder characterized by deposition of amorphous fibrinoid material along the maternal aspect of the intervillous space. This condition is associated with poor perinatal outcome—in particular, spontaneous abortion—fetal growth restriction, and stillbirth, with a high recurrence rate in subsequent pregnancies. It is unknown whether MFI is a single entity or the common end point of different insults. Most studies have linked MFI to underlying maternal disorders including gestational hypertension, autoimmune disease, and thrombophilia. In contrast, there have been only a few case reports regarding the possibility of a fetal basis for MFI. We report 2 cases of MFI in fetuses who suffered from oligohydramnios as a result of bilateral cystic renal dysplasia. These 2 cases suggest the concept that fetoplacental factors may also play a role in MFI. It is speculated that the mechanism might involve changes in intrauterine hydrostatic pressure gradients.

Prenatal three‐dimensional ultrasonography in a case of agnathia‐otocephaly

A case of prenatally diagnosed agnathia‐otocephaly is reported. Agnathia is an extremely rare anomaly characterized by an absence or hypoplasia of the mandible and abnormal horizontal position of the ears. The targeted 2‐D ultrasonography at 24 weeks of gestation revealed abnormal lower facial profile. Surface rendering 3‐D ultrasonography was used to evaluate the facial feature, showing excellent image when compared to the fetal face at autopsy. The reported case is discussed with a short review of the literature.

Ectopic Thymoma Can Mimic Benign and Malignant Thyroid Lesions on Fine Needle Aspiration Cytology: A Case Report and Literature Review

Background: Ectopic cervical thymomas are rare and there are few descriptions of the cytologic findings based on fine needle aspiration. Their appearances can be misinterpreted as either benign or malignant lesions of the thyroid. The authors report such a case occurring in a patient with Sotos syndrome, a genetic disorder characterized by somatic overgrowth and cognitive impairment. Case Report: The patient developed a neck mass that was examined first by fine needle aspiration and then by pathologic examination of the resected specimen. On fine needle aspiration, a diagnosis of papillary carcinoma of the thyroid was favoured, based on the presence of large cohesive sheets of anastomosing papillary tissue fragments with fibrovascular cores. Pathologic examination of the resection specimen showed a thymoma, subtype B3. The cytologic findings correlated with the presence of nuclear palisading of tumour cells around perivascular spaces. Conclusion: To the best of our knowledge, this histologic subtype of thymoma has never been reported in ectopic cervical thymic tissue, nor these particular cytologic findings that can lead to an erroneous diagnosis of thyroid carcinoma. Moreover, this is the first description of thymoma in association with Sotos syndrome.

Peripheral Villous Stromal Hyperplasia: A Distinctive Placental Lesion in Hemoglobin Bart Hydrops Fetalis

In hydrops fetalis (HF) the placenta can be markedly enlarged and the villi show stromal edema, increased Hofbauer cells, and reduced numbers of capillaries. Hemoglobin (Hb) Bart is the most severe form of thalassemia, causing HF due to profound anemia. We report a previously undescribed histologic finding based on a review of Hb Bart HF cases, termed “peripheral villous stromal hypercellularity.” This change was noted in 15 of 18 (83%) placentas with Hb Bart HF but not in placentas of 21 cases of HF due to other causes, including 11 cases involving anemia. The hyperplastic stromal cells were determined to be myofibroblastic by immunohistochemistry and electron microscopy, associated with a more complex capillary network in villi than is seen with other causes of HF. The authors hypothesize that this angiogenesis in villi is a response to fetal anemia from Hb Bart. In turn, there is increased villous blood flow, resulting in edematous villous stroma, leading to narrowing of the intervillous space in the placenta. Hyperplasia of myofibroblasts might then be a compensatory change, in that contraction by these cells would reduce the vascular lumina and the size of placental villi, thereby widening the intervillous space to improve capacity for maternal blood circulation. Curiously, this histologic change was restricted to cases of HF caused by Hb Bart. We speculate that in Hb Bart disease, the hypoxia and hydrops develop earlier in gestation, compared to other causes of HF, allowing the time for these adaptive changes to occur in the placenta.

Pharyngeal hairy polyps: five new cases and review of the literature.

Pharyngeal hairy polyps are rare lesions that present as a pedunculated mass that may arise from the oropharyngeal or nasopharyngeal regions of the pharynx. The mass has the potential to partially or completely obstruct pathways towards the trachea and/or esophagus resulting in respiratory distress and/or feeding difficulties respectively.  They have a predilection for female infants of 6:1 with the vast majority of the cases occurring in the infantile period. We report 5 cases of the hairy polyp in female infants, one of which showed unusual presentation since it was diagnosed at ten months of age.

Combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in Meckel-Gruber syndrome: a case report.

Meckel-Gruber syndrome (MKS) is a fatal, autosomal recessive disorder characterized by malformation of central nervous system, particularly occipital encephalocele, bilateral renal dysplasia, and polydactyly. However, the clinical findings of this syndrome encompass various organ abnormalities as a result of genetic heterogeneity. The associated heart anomaly in MKS is inconstant. Its prevalence is rare and no striking or specific cardiac defects have been documented. We present a case of MKS with combined cor triatriatum sinistrum (left atrium divided into upper and lower compartment by a thin membrane) and hypoplastic left heart syndrome (underdeveloped mitral valve, left ventricle, and aorta) in a 33-week male fetus that was ultrasonographically detected and confirmed by autopsy. In addition to the cardiac defects, the patient was found to have postaxial polydactyly of 4 extremities, Dandy-Walker malformation, bilateral renal cystic dysplasia, and hepatic plate malformation. To the best of our knowledge, this is the first time that a combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in MKS has been reported in the literature.

Fatty infiltration of the thymus in response to illness in the pediatric population.

Under physiologic stress, glucocorticoids contribute to thymic involution. While steroids enhance fatty infiltration, this change has not been well studied in the pediatric thymus during illness. Evaluation of 130 thymuses from fetuses, infants and children determined the frequency of thymic fatty infiltration to be low (25%), particularly in fetal thymus (4%). In most cases, fatty infiltration was focal. There was a significant correlation with duration of illness, but not with patient age, gestational age, or underlying disease. There was significantly less fatty infiltration in fetal thymus compared to post-natal thymus, for the same degree of thymic involution. Only seven cases showed diffuse thymic fatty infiltration; all were post-natal associated with an infectious etiology. In contrast, fetal cases of chorioamnionitis seldom showed fatty infiltration and only focally, implying the stress response of fetal thymus differs post-natal, possibly related to the timing of adipose tissue development and fetal glucocorticoid response to stress.