Diastématomyélie: difficultés du diagnostic anténatal

Diastematomyelia is a rare spinal malformation characterized by a cleft in the spinal cord caused by a sagittal osseous or fibrocartilaginous spur. We report a case of prenatal diagnosis of diastematomyelia on a routine second-trimester sonography. Postnatal MRI confirmed the diagnosis, whereas fetal MRI detected a lumbosacral lipoma. Diastematomyelia can be diagnosed antenatally with highly specific sonographic signs. We discuss the interest of antenatal MRI, made in second intention, to specify the diagnosis and the prognosis of this malformation.     

Environnement,génétique et épigénétique

Beginning in the 1960s, the idea that the vast majority of human diseases are neither the result of isolated environmental exposures nor that of the mutation of a single gene was imposed: genetic and environmental risks often are combined. A few years later, experiments have shown that acquired cell changes can lead to persistent changes in gene expression and can be transmitted from one generation to another: the field of epigenetics was born. This article attempts to explain these mechanisms and to give examples. At risk pollutants in the environment include, for example, air pollutants, heavy metals (lead and mercury), flame retardants, and certain pesticides. The critical effects examined are fetal growth and prematurity, neurological and cognitive development, respiratory and immunological health, child growth, and obesity. Among the congenital abnormalities, those that are best known as a result of a gene–environment interaction are neural tube defects, facial clefts, and heart diseases. The recent concept of epigenetics and transgenerational heredity indicates that diet, breathed air, and even emotions might influence not only the expression of an individual’s genes but that of his children and grandchildren. Thus, undernutrition, overeating, or stress is likely to induce in the next generations pathologies as varied as obesity, diabetes, allergies, or cardiovascular diseases. Results of the quoted studies could have important consequences for the knowledge of risk factors, prevention, or even therapy of many diseases.     

Décidualisation ectopique géante du péritoine et de l’épiploon mimant une carcinose péritonéale

Ectopic decidual reaction of the peritoneum and the omentum is rare. It is usually an incidental finding during caesarean section and it could mimick macroscopically peritoneal carcinomatosis or tuberculosis. Histology is very important to make diagnosis. Ectopic decidual reaction is physiological, with an excellent prognosis and spontaneous resolution. We report one case of ectopic peritoneal and omental deciduosis of the peritoneum and discovered incidently during caesarian section. Definitive diagnosis was done by immunohistological examination. A laparoscopy four months later showed complete and spontaneous regression of all lesions.     

Métastase orificielle sur site de trocart après lymphadénectomie rétropéritonéale pour un adénocarcinome endométrial

Port-site metastasis is a rare but serious complication of laparoscopic surgery. The etiologies are poorly identified and multiple. We report the case of port-site metastasis after laparoscopic retroperitoneal lymphadenectomy for endometrial adenocarcinoma. In the literature, three cases of port-site metastasis after laparoscopic retroperitoneal lymphadenectomy are reported: two cases concerning cervical cancer and one case concerning a kidney cancer. To our knowledge, this is the only case about port site metastasis after laparoscopic retroperitoneal lymphadenectomy for endometrial adenocarcinoma.     

Encéphalopathie néonatale: quand évoquer une maladie métabolique héréditaire ?

Inborn errors of metabolism (IEM) are individually rare but collectively numerous. Clinical presentations of IEM should be various, including neonatal encephalopathy mimicking a perinatal asphyxia. The diagnosis of IEM should be considered in all situations of neonatal distress that persist and remain unexplained after usual investigations and the initial treatment. It is essential to do not misdiagnose IEM because this diagnosis may modify therapeutic strategy and prognosis, allow predicting the risk of disease recurrence, and may have medico-legal implications in some cases. Metabolic investigations must be proposed when symptoms cannot easily be attributed to perinatal asphyxia or some other common cause. Diagnosis of IEM should also be considered in situations of consanguinity, or of similar symptoms in siblings. When an IEM is suspected, simple metabolic investigations are helpful to orient diagnosis and treatments. Practically, four conditions may be individualized: neurological distress with lactic acidosis or with multi-organ dysfunction, generalized seizures and neurological distress after a symptom-free period.     

Les maternités en milieu rural : bénéfices et inconvénients de la fermeture des maternités de proximité

The aim is to describe the specific conditions of childbirth for women in rural communities, to develop the issues associated with accessibility of care and maintaining quality of care in basic and small maternity units, and to discuss the issues faced in maintaining local primary care facilities in the most isolated areas. In France, there is no clear evidence, from a medical point of view, to support maintaining structures in remote locations at any cost or, inversely, getting rid of small units. Other elements, such as the demand from families and the restrictions associated with the cost of maintaining certain units and the limited number of doctors, also need to be considered. If there is the desire to maintain small scale structures in isolated areas, it would be beneficial to consider changes to the minimum operational conditions of these departments, taking into account current limitations, by learning from experiments conducted in other countries.     

Fistule pyéloveineuse révélée par des accidents thromboemboliques après hystérectomie d’hémostase

We report the case of a 51-year old woman presenting pyelovenous fistula revealed by recurrent and serious thromboembolic events after ureteral ligation during emergency peripartum hysterectomy. Imaging reported a complete left ureteral obstruction, a fistula between the upper calix and the left renal vein and a renal function preserved. Uretero-vesical reimplantation was performed. The patient was well doing after 12 months. The authors wonder if pyelovenous fistula is responsible for prothrombotic state and maintaining renal function.     

Problématique des transferts néonatals dans la région de Dakar (Sénégal)

Objective

To analyze conditions of medical transfer of the sick newborns in the region of Dakar, Senegal.

Method

This was a prospective transversal study, between August 2013 and January 2014 (6 months), concerning neonatal transfer in eight health peripheral centers and three Central University neonatal units, all localized in Dakar region. For each transfer, socio-demographic and perinatal data, treatment before transfer, conditions and duration of the transfer, and outcome of newborns were collected. Data was analyzed with SPSS 21.

Results

A total of 130 neonatal transfers were documented. The direction of transfer was from peripheral centers toward Central University neonatal units in 99 cases (76.1%) and between Central units in 31 cases (23.8%). There was male predominance with a sex-ratio of 1:6. Mean neonatal age at the time of transfer was 72 hours (between 1 hour and 28 days) and early transfers before 48 hours represented 52.3% (68 cases). Referral centers have been informed in only 26.9% of cases. The main causes of transfer were sepsis (35.4%), respiratory distress syndrome (33.8%), and low birth weight (LBW) (33.1%). In pretransfer, 37.7% of newborns received no care and 39.2% were resuscitated. The ambulance was used in only 30% of transfers; the urban taxi was the most used mode of transport (45.4%). There was no support from the health workers during transport in 72.3% of cases. The mean delay before admission in a referral center was 3.5 hours (maximum of 3 days). During the transport, more than half the newborns (53.8%) had visited at least two Central neonatal units before admission. On arrival, three newborns had died and six were in cardiorespiratory arrest. Hypothermia was seen in 33.8% of newborns and hypoglycemia in 23.8%. The mortality rate among the referred newborns was 22.3% (29 deaths).

Conclusion|Neonatal transfers are carried out in poor conditions in the region of Dakar. The implementation of an effective neonatal transport system, articulated around regional perinatal networks, is a priority for all Senegalese

     

La démarche palliative en médecine périnatale

The palliative approach in perinatal medicine aims, by respecting the law, the ethics and the principles of palliative care, aims at insuring the comfort of a newborn child affected by a severe and incurable condition during all the duration of life. This approach favours the meeting of the child with his/her parents, the siblings, and the widened family such as grandfathers, in view to build a common history. This will permit the “social birth” to follow the physical birth; its role is major when arises the time of mourning. To promote the absolute non-separation between the mother (the couple) and the child, allowing them to weave strong links in a reduced time, it is necessary to consider arrangements of the structures, modifications of the ways of thinking, even changes in the conception of medicine from the professional carried by a common ideal. If the life goes on, the palliative approach allows an accompaniment of longterm quality. Since 2005 in France, a number of reflections, studies, inquiries and specific publications came to constitute a corpus of new knowledge which deserves to be notified to all. The ethical principles and the legal requirements constitute the frame of the reflection. The analysis of the real-life experience of the parents (often reported by the psychologists and the child psychiatrists) and of the real-life experience of the teams motivated the evolution of the practices in the wards and allowed to propose procedures more adapted to the waits of both the public and the professionals confronted with these situations. These initiatives which improve the everyday life of newborn children, families and teams are based on the establishment of a high reliable level of confidence between the professionals of diverse horizons and between these professionals and the parents. They also suppose the preservation of an ethical coherence and a coherence of objectives and language between all the protagonists whom the parents meet. Therefore, a common culture arises combining the data from both perinatal medicine and palliative care. All this should ideally help to avoid pathological bereavements in families and in the prevention of the burnout in the teams. Families confronted with these problems could now lean on these works to move forward in their approach.