Makiko Ohyama

Mesenchymal dysplasia of the placenta

A severe case of placental mesenchymal dysplasia occurred in association with intrauterine fetal death (IUFD). The gravida‐1, para‐1 mother was a 26‐year‐old Japanese. The first pregnancy was unremarkable and a healthy female infant was delivered. The present pregnancy had been uneventful until 34 weeks of gestation when IUFD was detected. The 1516‐g (mean ± SD, 2050 ± 387 g) stillborn infant had no external abnormalities and the karyotype was 46,XX. The placenta was markedly enlarged (1050 g; mean ± SD, 452 ± 202 g), and approximately 80% was occupied by extraordinary enlarged villous structures with a myxoid appearance. Histologically, the dysplastic villi had myxoid stroma and a decreased number of, occasionally obliterated, fetal vessels. There was no abnormal trophoblastic proliferation. Large‐sized fetal vessels in the chorionic plate frequently contained organized thrombi. This is the first case of placental mesenchymal dysplasia, which possibly lead to the IUFD.

Magnetic Resonance Imaging Regional T1 Abnormalities at Term Accurately Predict Motor Outcome in Preterm Infants

OBJECTIVE. The aim of this study was to assess whether periventricular leukomalacia findings are sufficiently sensitive for predicting the severity of motor prognosis by conventional MRI in the near term. METHODS. Preterm infants with T1 hyperintensity or cysts in the periventricular regions on term MRI were selected, and their gross motor functions were evaluated at the age of 3 to 5 years. Sixty-two infants had findings of T1 hyperintensity or cysts, and except for infants with these findings, none were diagnosed later as periventricular leukomalacia. RESULTS. All 37 patients with cerebral palsy had periventricular lesions with T1 hyperintensity or cysts in the corona radiata above the posterior limb of the internal capsule on coronal sections. Small T1 hyperintensity lesions were seen on coronal slices and were often difficult to detect on axial slices. All of the 17 infants with T1 hyperintensity findings sparing the corona radiata above the posterior limb of the internal capsule showed normal motor development, irrespective of findings of ventriculomegaly. There was a tendency for the presence of widespread lesions in corona radiata above the posterior limb of the internal capsule to be correlated with the severity of motor handicap. CONCLUSIONS. Lesions in the corona radiata above the posterior limb of the internal capsule on a coronal view by term MRI were useful for predicting motor prognosis in preterm infants with periventricular leukomalacia.

BANNAYAN SYNDROME—GENERALIZED LIPOMATOSIS ASSOCIATED WITH MEGALENCEPHALY AND MACRODACTYLY

This paper reports an autopsy case of a 5‐year and 11‐month‐old girl with generalized subcutaneous lipomatosis, megalencephaly, and macrodactyly. Marked emaciation and poor prognosis were the characteristic findings of this case. We thought that this case was identical with a rare syndrome which was initially reported by Bannayan in 1971. Autopsy disclosed diffuse lipomatosis in the thoracic and abdominal cavity, and infiltration of fat tissue to the pancreas. Hyperplasia of the small intestinal mucosa and Peyers patch, and a pedunculated polyp of the sigmoid colon were the unique findings which could not be seen in the previously reported cases.

Manual expression and electric breast pumping in the first 48 h after delivery.

Background:  Early feeding for preterm infants via the mothers own milk is crucial for lowering morbidity and mortality. Obtaining the mothers milk in the first few days is sometimes difficult; an effective way of mediating this problem has not yet been established. The aim of the present study was therefore to investigate whether breast pumping using a hospital‐grade electric pump was more effective in maximizing the available milk volume and more comfortable than manual expression in the first 48 h after birth.

Umbilical cord ulceration and intestinal atresia.

Umbilical ulceration is an extremely rare complication in the perinatal period. We encountered a case of intestinal atresia complicated by massive intrauterine hemorrhage due to the umbilical cord ulceration. This is the fifth reported case demonstrating an association between the umbilical cord ulceration and intestinal atresia.

Tailor-made circulatory management based on the stress-velocity relationship in preterm infants.

Preterm infants frequently experience pulmonary hemorrhage or cerebral intraventricular hemorrhage after birth. The immature myocardium of the left ventricle faces a high afterload after the baby is separated from the placenta. However, the preterm left ventricle has limited ability to respond to such an increase in afterload. This results in depressed cardiac function and a deterioration in hemodynamics. We speculated that the perinatal deterioration in cardiac performance would be closely related to serious hemorrhages. To prove our hypothesis, we studied the interrelationship between the perinatal changes in cardiac performance and the incidences of intraventricular and pulmonary hemorrhage. We obtained the stress-velocity relationship (rate-corrected mean fiber shortening velocity and end-systolic wall stress relationship) by M-mode echocardiography and arterial blood pressure measurement. We found that the incidences of intraventricular and/or pulmonary hemorrhages were higher in infants with an excessive afterload, which resulted in a decrease in the function of the left ventricle. We suggest that careful attention to keep the afterload at an acceptable level by vasodilator therapy and sedation may reduce or prevent these serious complications. In this review, we will discuss our data along with related literature.

Congenital primitive epithelial tumor of the liver showing focal rhabdoid features, placental involvement, and clinical features mimicking multifocal hemangioma or stage 4S neuroblastoma

We describe an unusual case of congenital primitive epithelial tumor of the liver with focal rhabdoid features. The present case is unique and informative in the following aspects: (1) a first case of congenital epithelial tumor of the liver with no hepatocytic differentiation but focal rhabdoid features, (2) clinical similarities to multicentric hemangioma or stage 4S neuroblastoma, (3) diagnosis obtained from histological examination of the placenta immediately after birth.

De novo trisomy 16p11.2-qter: Report of an infant

We report on a four-month-old girl with a de novo trisomy 16q [47,XX, +del(16)(p11.2).ish del(16)(p11.2)(wcp16+,D16Z2+,tel16q+, tel16p-)]. She had minor facial anomalies, limb anomalies, urogenital abnormalities, and severe cardiovascular defects. Autopsy confirmed left hypoplastic lung, total anomalous pulmonary venous drainage via coronary sinus, persistent left superior vena cava, patent ductus arteriosus, secundum atrial septal defect, bilateral hydronephrosis and hydroureters, uterus bicornis, and ovarian hypoplasia. Short tandem repeat polymorphism analysis indicated that the additional, structurally abnormal chromosome 16 was maternal in origin.

Congenital dyserythropoietic anemia type 1 with fetal onset of severe anemia

We report a patient with congenital dyserythropoietic anemia type 1 with characteristic anomalies and two novel clinicopathologic presentations: intrauterine onset of severe anemia resulting in cardiac failure and relatively mild dyserythropoietic features on bone marrow aspiration in contrast to severity of anemia. After repeated transfusions and a trial of erythropoietin administration, the patient died from respiratory infection at age 7 months. Autopsy revealed characteristic dyserythropoietic features of the bone marrow by light microscopy and electron microscopy, which confirmed a diagnosis of congenital dyserythropoietic anemia type 1.

Syphilitic placentitis: Demonstration ofTreponema pallidum by immunoperoxidase staining

We report a case of early congenital syphilis in which the placenta showed diffuse proliferative villitis andTreponema pallidum was identified by indirect immunoperoxidase stain in formalin-fixed paraffin-embedded placental tissue. This is the first report demonstratingT. pallidum in placental tissue using an immunohistochemical method.