Enid Gilbert-Barness

Abnormal Umbilical Cord Coiling Is Associated with Adverse Perinatal Outcomes

The normal umbilical cord coil index is one coil/5 cm, i.e., 0.2 ± 0.1 coils completed per cm. We report the frequency and clinical correlations of abnormally coiled cords among 1329 cases referred to our placental pathology services. Twenty-one percent of cords were overcoiled and 13% were undercoiled. Abnormal cord coiling was seen at all gestational ages. Principal clinical correlations found in overcoiled cords were fetal demise (37%), fetal intolerance to labor (14%), intrauterine growth retardation (10%), and chorioamnionitis (10%). For undercoiled cords, the frequencies of these adverse outcomes were 29%, 21%, 15%, and 29%, respectively. Abnormal cord coiling was associated with thrombosis of chorionic plate vessels, umbilical venous thrombosis, and cord stenosis. Thus, abnormal cord coiling is a chronic state, established in early gestation, that may have chronic (growth retardation) and acute (fetal intolerance to labor and fetal demise) effects on fetal well-being. The cause of abnormal cord coiling is not known. Its effects on neurological status of survivors are also unknown. Antenatal detection of abnormal cord coil index by ultrasound could lead to elective delivery of fetuses at risk, thereby reducing the fetal death rate by about one-half. We recommend that the cord coil index become part of the routine placental pathology examination.

Isovaleric Acidemia with Promyelocytic Myeloproliferative Syndrome

ABSTRACT Isovaleric acidemia, an autosomal recessive disorder, is due to isovaleryl-coenzyme A dehydrogenase deficiency and is one of the branched-chain aminoacidopathies. Isovaleric acidemia may present in the neonatal period with an acute episode of severe metabolic acidosis, ketosis, and vomiting and may lead to coma and death in the first 2 months of life. This report concerns an infant who presented at 10 days of age because of lethargy, poor feeding, hypothermia, cholestasis, and thrombocytopenia, leukopenia, and profound pancytopenia. Death occurred at 19 days of age. Autopsy showed mild fatty change in the liver and extramedullary hematopoiesis, generalized Escherichia coli sepsis, and myelodysplasia of the bone marrow with arrest of the myeloid series at the promyelocytic stage. The appearance resembled promyelocytic leukemia, but the diagnostic 15:17 translocation was not present. The maturation arrest in granulopoiesis in isovaleric acidemia appears to be most likely due to a direct metabolic effect on granulocyte precursor cells.

ADAM "sequence" part II: hypothesis and speculation.

Noted for centuries in humans, a relatively hairless mammal [e.g., Hallero, 1766; Hohl, 1828 in Klunker, 2003], the so‐called amniotic deformities, adhesions, mutilations (ADAM) sequence remains causally and pathogenetically incognito. In 1930 Streeter stated “ apodictically” that no evidence has been found that intra‐uterine amputation is due to amniotic bands or adhesions …” and that his 16 cases provided (histological) evidence for a “germinal origin.” He concluded that an amniotic cord was “not an adhesion or inflammatory product but … an anomalous developmental structure and present from the outset.” In survivors the “traces” of damaged limb‐buds “reveal the scars of poor germ‐plasm.” In 1958, Willis, in dismissing the amniotic origin of the ADAM defects (or “Streeter” or “Simonart” bands) quoted Keith [1940] to the effect that “(a)mniotic adhesions … are always produced by … the fetus – as a result of dysplasia in foetal tissues. They are the result, not the cause, of foetal malformations.” Streeter [1930] mentions a potential familial case (56‐year‐old man and his mother), not controlled by photographs or other records and concluded “that the (ADAM) deformity is not easily transmissible,” but “due to the constitution of the germ‐plasm.” Torpin [1968] concluded, as apodictically as Streeter and Willis, that “… proof of amnion rupture without damage to the chorionic sac is no longer “in question.” Considering Torpins decades‐long study of the ADAM phenomenon and review of 494 references (missing many) it is surprising that he does not discuss the relationship between the apparent ADAM defects and other, internal anomalies that maybe present in an affected fetus or infant not evidently caused by the amniotic disruptions, adhesions or mutilations, unless his mind was made up. Our review of these internal and other presumed primary malformations in ADAM is ongoing. However, on a preliminary basis, it seems likely to us that: (1) there is an increased prevalence of such primary anomalies in the ADAM condition confirming the view and experience of others, for example Czeizel et al. [1993]; (2) these malformations (e.g., heterotaxy) may arise as early as gastrulation; (3) that, given the ADAM phenomenon is exclusively ascertained as the ADAM phenotype in fetuses and infants, that is, that its cause and ascertainment are completely congruent, then the apparent amniotic defect must also be regarded as a malformation; (4) that in such a case the ADAM phenomenon with associated primary malformation(s) is a form of syndromal pleiotropy due to one cause yet to be elucidated. To that end we recommend archiving DNA from all affected fetuses coming to autopsy and their parents and placentas and surgical tissues of all viable affected infants for ultimate exome or genome sequencing perhaps with special attention to the syncytin genes.

LEFT CHEST CYST IN 26-WEEK FETUS

A left chest cyst was found in an 18-week fetus. At autopsy it was found to be a cystic lymphangioma arising from the diaphragm.

PATHOLOGY TEACH AND TELL: MALIGNANT RHABDOID TUMOR OF KIDNEY

A 13-month-old African-American girl presented with a history of constipation and increased abdominal distention for 1 week. Her mother gave her some castor oil and an enema that resulted in one wa...

LARGE CELL LYMPHOMA--T-CELL TYPE

A 9-year-old boy presented with a 5-day history of left neck pain and dysphagia. He also had experienced diffuse rib and sternal pain. He denied fever, weight loss, night sweats, nausea, and vomiting. There were no sick contacts, tuberculosis exposure, or recent cat scratches. On physical examination, there was a 7-cm fixed mass along the left anterior cervical chain that was nonerythematous, firm, and tender.There was a firm, mobile, and tender1-cm lymph node along the right anterior cervical chain. A computed tomography (CT) scan of the neck revealed bilateral lymphadenopathy that was more pronounced on the left with jugular vein occlusion (Figure 1). On a chest CTscan (Figure 2), there was extensive mediastinal lymphadenopathy. Histologic sections (Figures 3A and 3B) of the right cervical lymph node are shown.

Fibrous Hamartoma of Infancy: Pediatric Pathology Case

A l U-month-old female presented with a right buttock mass that had been enlarging in the preceding 3 to 5 days. Simultaneously, a bruise had appeared over this area. The right buttock had been large since birth. There was no history of recent fever, infection, or trauma to the buttock area. Physical examination revealed a soft, well-defined subcutaneous mass that was slightly tender. The overlying skin demonstrated a red-purple discoloration but was otherwise intact (Figure 1). Ultrasound and magnetic resonance imaging showed a multiseptate lesion involving the right buttock and posterior thigh; fluid levels were present (Figure 2). The bulk of the mass was surgically excised; however, portions extended into the muscle and could not be removed. The excised specimen is presented in Figure 3, and microscopic sections are shown in Figure 4.