End-of-life decisions and practices for very preterm infants in the Wallonia-Brussels Federation of Belgium.

BACKGROUND: Very preterm birth (24 to < 32 week's gestation) is a major public health issue due to its prevalence, the clinical and ethical questions it raises and the associated costs. It raises two major clinical and ethical dilemma: (i) during the perinatal period, whether or not to actively manage a baby born very prematurely and (ii) during the postnatal period, whether or not to continue a curative treatment plan initiated at birth. The Wallonia-Brussels Federation in Belgium counts 11 neonatal intensive care units. METHODS: An inventory of key practices was compiled on the basis of an online questionnaire that was sent to the 65 neonatologists working in these units. The questionnaire investigated care-related decisions and practices during the antenatal, perinatal and postnatal periods, as well as personal opinions on the possibility of standardising and/or legislating for end-of-life decisions and practices. The participation rate was 89% (n = 58). RESULTS: The results show a high level of homogeneity pointing to overall agreement on the main principles governing curative practice and the gestational age that can be actively managed given the current state of knowledge. There was, however, greater diversity regarding principles governing the transition to end-of-life care, as well as opinions about the need for a common protocol or law to govern such practices. CONCLUSION: Our results reflect the uncertainty inherent in the complex and diverse situations that are encountered in this extreme area of clinical practice, and call for qualitative research and expert debates to further document and make recommendations for best practices regarding several "gray zones" of end-of-life care in neonatology, so that high quality palliative care may be granted to all neonates concerned with end-of-life decisions.

A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation.

Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder characterized by profuse sweating at cold environmental temperatures, facial dysmorphism and skeletal features. The infantile presentation of CISS, referred to as Crisponi syndrome (CS), is characterized by facial muscular contractures in response to slight tactile stimuli or during crying, by life-threatening feeding difficulties caused by suck and swallow inabilities, and by intermittent hyperthermia. High febrile crises can lead to death within the first months of life. In preadolescence, surviving patients develop kyphoscoliosis and abnormal sweating. CISS is a genetically heterogeneous disorder caused by mutations in CRLF1 in more than 90 percent of patients (CISS1) and by mutations in CLCF1 in the remaining patients (CISS2). It is now well demonstrated that all patients with an infantile-onset CS will develop CISS, confirming that CS and CISS are not "allelic disorders" but the same clinical entity described at different ages of affected patients. Here we report on a Turkish patient with a phenotype consistent with CS/CISS1 and a nonsense homozygous mutation (c.829C>T, p.R277X) in the CRLF1 gene. This mutation has already been reported in another Turkish patient with CS/CISS1.

Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.

Leber hereditary optic neuropathy is a well-known mitochondrial disorder that leads to bilateral subacute visual failure. Although visual impairment is often the sole clinical feature, additional and severe neurologic abnormalities also have been documented for this disease. We report on a 13-year-old boy who has presented with severe visual failure since early childhood in a context of prematurity. In the first years of his life, clinical features included delayed psychomotor development and ataxia. The clinical presentation, which was initially attributed to prematurity, worsened thereafter, and the child developed acute neurologic degradation with the typical radiological findings of Leigh syndrome. The mitochondrial DNA point mutation 11778G>A was identified in the ND4 gene. The probable influence of environmental background on clinical expression of Leber optic neuropathy, particularly those of prematurity and oxygen therapy, is discussed in our manuscript.