Practice of pathological examinations in stillbirths: A 10-year retrospective study.

OBJECTIVES: To describe the practice of fetal and placental pathological examinations in a large series of spontaneous stillbirths over 10 years. MATERIALS AND METHODS: Inclusion of cases recorded by the Lower Normandy Regional Fetal-Infant Mortality Observatory (observatoire régional de mortalité fœto-infantile) from January 1, 2005 to December 31, 2014. The possible cause of death was coded in accordance with the ReCoDe classification system. RESULTS: Seven hundred and forty-four cases were recorded. The placental examinations were conducted in 93.7% of cases (CI95%[91.7-95.3]), increasing over the study period, and an autopsy was proposed in 87.2% of cases (CI95%[84.8-89.6]). Autopsy was conducted less frequently during the most recent period, with parental refusal increasing over time. In multivariate analysis, no factor was associated with a higher frequency of placental examinations, while autopsy was proposed more often under certain circumstances: less than 4 pregnancies (P<10-2), birth weight from 1000 to 1500 grams (P=0.05), singleton (P<10-2), clinical context not suggesting a cause (P<10-3), type 1 or 2 maternity ward (P<10-2), antepartum death (P<10-3). CONCLUSION: Placental analysis was almost systematically realized, as suggested by international guidelines. Fetal autopsy was often performed, however only in some specific circumstances. New practice guidance to realize customized fetal autopsies appear to be necessary.

Facial features in Harlequin ichthyosis: Clinical findings about 4 cases.

We report 4 cases of Harlequin ichthyosis, which is a rare and severe congenital ichthyosis involving the face. Facial appearance consists in severe ectropion, conjonctival edema, eclabium, flattened ears, broadened nose and large, thick, plate-like skin scales. Recent advances in neonatal care have been made, such as retinoid therapy, and have led to an increased survival rate. Early surgical correction of ectropion may be required because of ocular complications.

[Osteoid osteoma on distal phalanx tip of second toe, without scintigraphy fixation]. / Ostéome ostéoïde de la phalange distale sans hyperfixation scintigraphique.

Osteoid osteoma is a very small painful, benign tumor, located preferentially on long bones. Cases on the phalanxes of the toes are very rare. Pain takes up nearly all the clinical presentation. Poor clinical signs and atypical location make diagnosis difficult and delayed. Sometimes, it can be confused with local infection. Various additional tests are described to help diagnosis. Technetium 99-m scintigraphy coupled with CT is the key exam with high sensitivity and morphological accuracy. We report on the case of a 10-year-old boy with an atypical location of osteoid osteoma on the distal phalanx tip of the second toe, without scintigraphy fixation and obvious nidus on X-ray and CT scan.

[Alveolar capillary dysplasia with misalignment of pulmonary veins: a fatal cause of refractory neonatal cyanosis]. / Dysplasie alvéolo-capillaire avec mésalignement des veines pulmonaires : une cause de cyanose néonatale réfractaire létale.

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare neonatal pathology that combines refractory hypoxemia with severe pulmonary arterial hypertension, and leads to death every time. Histologic examination of lung tissue confirms the diagnosis and is characterized by a decreased number of pulmonary capillaries, immature lobular development, and abnormal proximity between pulmonary arteries and veins. This abnormal proximity is responsible for an arteriovenous shunt. We report five cases confirmed by postmortem histology, which occurred over 14 years in Lower Normandy (France). The cumulative incidence is therefore of 1.8 for 100,000 births. In these five cases, the first symptoms appeared during the first hour of life and death occurred before 24h in four of five cases. The patient with the longest survival had mild histological lesions and delayed emergence of the first symptoms. Genitourinary and gastrointestinal anomalies were associated with ACD/MPV in two cases, and bilateral pulmonary hypoplasia in three cases. Optimized invasive ventilation, pulmonary vasodilators, vasoactive drugs, and pulmonary surfactant did not improve survival. Extracorporeal membrane oxygenation (ECMO) was not used. We present a review of the literature on ACD/MPV, a clinical and histological entity little known to both clinicians and pathologists, whereas a premortem diagnosis is possible and genetic counseling in affected families can be suggested.

Involvement and alteration of the Sonic Hedgehog pathway is associated with decreased cholesterol level in trisomy 18 and SLO amniocytes.

BACKGROUND: Trisomy 18 and Smith-Lemli-Opitz syndrome are two polymalformative conditions in which a cholesterol defect has been noted. When they occur prenatally, they are associated with a decreased maternal unconjugated estriol (uE(3)) level. Cholesterol plays an essential role in the Sonic Hedgehog pathway, allowing Shh protein maturation leading to its maximal activity. Many malformations in these two syndromes occur in Shh dependent tissues. We thus sought to assess whether a cholesterol defect could affect the Shh pathway and explain some of the observed malformations. MATERIALS AND METHODS: We selected 14 cases of trisomy 18 and 3 cases of SLO in which the maternal uE(3) level was decreased and reported malformations were observed after fetopathological examination. We correlated the number of malformations with maternal uE(3) level. We then carried out cholesterol concentrations in separate culture media consisting of trisomy 18, SLO and control amniocytes. Finally, we analyzed the Shh pathway by testing the gene expression of several Shh components: GLI transcription factors, BMP2, BMP4, TGFß1, COL1A1 and COL1A2. RESULTS AND DISCUSSION: There was an inverse correlation between phenotypic severity and maternal uE(3) levels in SLO and trisomy 18. The cholesterol levels in the amniocyte culture media were correlated with maternal uE3 levels and were significantly lower in T18 and SLO amniocytes, reflecting cholesterol defects. There was an alteration in the Shh pathway since expression of several genes was decreased in T18 and SLO amniocytes. However, these cholesterol defects were not solely responsible for the altered Shh pathway and the malformations observed.

[Acute-placental dysfunction by villous-maturation defect and late-fetal mortality]. / Dysfonction placentaire aiguë par retard de maturation villositaire et décès foetal tardif.

INTRODUCTION: The placental histological examination is essential in the assessment of stillbirths, especially those of third trimester, which are often of placental origin by chronic placental dysfunction and sometimes by acute dysfunction. The physiopathogenesis of the latter remains obscure. MATERIAL AND METHOD: Three stillbirths, one per partum and two after 38 and 39 weeks gestation, caused by acute-placental dysfunction by villous maturation defect were studied. The maternal aetiological investigations and the fetal autopsies were normal. Placentas were pale. Villi were numerous, normal size but fibrous, showing a severely reduced vascularization and a lack of syncytium-capillary membranes. RESULTS: Only one author studied the villous maturation defect. He defines this entity by the same characteristics as that noted in our observations. Its incidence would be of 5.7% and would be associated with fetal death only after the eighth month in 2.3 % of cases, with a risk of recurrence estimated at 10%. CONCLUSION: This entity, probably underestimated, must be indexed systematically in any late fetal death and any unexplained per partum asphyxia, in order to help the couple overcome a fetal death and to give doctors a medicolegal support.

[Mandibular chloroma]. / Chlorome mandibulaire.

CASE REPORT: A 23 year-old girl was admitted for a facial tumefaction, fixed to the mandible. The X-rays showed a fuzzy osteolytic lesion of the mandibular angle. The CT-scan confirmed the rupture of the cortical bone and the extension to the soft tissue. Biopsy provided the diagnosis of granulocytic monoblastic sarcoma (chloroma). Chemotherapy was efficient. DISCUSSION: Mandibular localizations of chloroma are rare. Granulocytic monoblastic sarcoma is a localized tumor made of extramedullar immature granulocytes, in general associated (or more rarely preceded by) with leukemia. Early diagnosis is important because high dose chemotherapy induction may completely cure leukemia.

[Uterine and ovarian necrosis following embolisation of the uterine arteries for postpartum haemorrhagia]. / Nécrose utérine et ovarienne après embolisation des artères utérines pour hémorragie de la délivrance.

We report here the case of a young woman who presented with pain, fever and apparent cutaneous sub ischaemia following embolisation of the uterine arteries for postpartum haemorrhagia. This embolisation was carried out by bilateral selective catheterism of the uterine arteries using 45 to 150 micron polyvinyl alcohol particles. Investigative laparotomy was decided in view of the persistence of the symptoms, and the patient underwent hysterectomy with ablation of the right adnexa to treat uterine necrosis and adnexal atrophy. Because of the information that we have actually, we can explain that this complication is linked with the use of polyvinyl alcohol small size particles. The migration of those embolisation agents might be responsible for obliteration of a large number of distal vessels. Those embolisation agents must, because of recommendation for good practice published in 2004, be reserved to exceptional cases to minimize the complication of embolisation.

[Iniencephaly and early prenatal diagnosis]. / Iniencéphalie et diagnostic échographique précoce.

Iniencephaly is a rare malformation of the base of the skull. The brain is involved and prognosis is almost invariably lethal. Diagnosis is now possible with morphologic ultrasound, and lead to propose induced abortion. We describe a new case report with early prenatal diagnosis that allowed induced abortion at the term of 14 weeks.

[Iniencephaly: four cases and a review of the literature]. / Iniencéphalie: à propos de 4 nouvelles observations et revue de la littérature.

Iniencephaly is a rare malformation of the base of the skull. The brain is involved and prognosis is almost invariably lethal. We identified 202 reports in the literature up through 2000. Ultrasound morphology explorations now provide the diagnosis making it possible to propose pregnancy termination. We report four cases of iniencephaly diagnosed between 1992 and 1999.

[Angiomatoid fibrous histiocytoma: a rare pathologic entity]. / Histiocytome fibreux angiomatoïde: une entité rare.

Angiomatoid fibrous histiocytoma is an unusual tumor, affecting primarily young adults who develop local disease with favorable prognosis. This contrasts with the aggressive natural history of malignant fibrohistiocytoma. We report case of a 9-year-old girl who presented with a tumor mass of soft tissues with an unusual deep location, thereby with non distinctive clinical features. Surgical treatment was performed.

[Laparoscopic excision of an unusual appendiceal duplication]. / Exérèse laparoscopique d'une duplication appendiculaire atypique.

Duplications of the alimentary tract are rare congenital anomalies and vermiform appendix duplication is exceptional. The aim of this study was to report a case of cystic appendiceal duplication in a 4 years old child, unusual in its anatomic type, its clinical presentation and its way of management.