Sudden infant death syndrome: the role of multidisciplinary teams. Experience of the SIDS-ALTE Center of Liguria Region.

The aim of this paper was to highlight the importance of a multidisciplinary and multiprofessional management of SIDS for a complete approach to this tragic event. Both biomedical and psychosocial aspects are evaluated, focusing on the impact of SIDS diagnosis on the family. The paper describes the organization of our team, composed of a network of specialists involved in both prevention and management of SIDS. A protocol is proposed to improve SIDS diagnosis and management. In our team, the clinical pediatrician is the coordinator of specialists and the mediator between the family and the other specialists, thanks to his direct relationship with parents.

Apparent Life-Threatening Events (ALTE): Italian guidelines.

Five years after the first edition, we have revised and updated the guidelines, re-examining the queries and relative recommendations, expanding the issues addressed with the introduction of a new entity, recently proposed by the American Academy of Pediatrics: BRUE, an acronym for Brief Resolved Unexplained Events. In this manuscript we will use the term BRUE only to refer to mild, idiopathic cases rather than simply replace the acronym ALTE per se.In our guidelines the acronym ALTE is used for severe cases that are unexplainable after the first and second level examinations.Although the term ALTE can be used to describe the common symptoms at the onset, whenever the aetiology is ascertained, the final diagnosis may be better specified as seizures, gastroesophageal reflux, infection, arrhythmia, etc. Lastly, we have addressed the emerging problem of the so-called Sudden Unexpected Postnatal Collapse (SUPC), that might be considered as a severe ALTE occurring in the first week of life.

Sudden death in an infant revealing atypical Kawasaki disease.

We present a case of a 4-month-old girl referred to the emergency department with a provisional diagnosis of acute life-threatening event with a recent episode of heart block and a history of long-lasting fever. Soon after admission, the child suddenly deteriorated rapidly; she became pulseless with complete heart block and died despite intensive resuscitation efforts. Postmortem examination showed coronary arteritis with aneurysmal dilatation and coronary thrombosis, revealing atypical Kawasaki disease. With this case presentation, we discuss the importance of early recognition and treatment of atypical and/or incomplete forms of Kawasaki disease, which are most common in young infants and may lead, if untreated, to coronary artery abnormalities with a potential for myocardial infarctions, aneurysm formation, and sudden death. In addition, the relevance of postmortem examination in a case of sudden and undiagnosed infant death is underlined.

Cerebrovascular disease and varicella in children.

Varicella-associated stroke has been reported with increasing frequency in recent years. In many cases, diagnosis is difficult because of the late onset of manifestations after the acute infectious episode. Four cases of cerebrovascular disease after varicella infection were observed. Three children presented hemiparesis and one facial paresis. The neuroradiological findings comprised stenosis/occlusion of middle cerebral artery or nucleo capsular signal alteration. Because, several pathogenetic mechanisms have been proposed as the cause of stroke, the relationship between prothrombotic conditions, antipospholipid antibodies and stroke in these patients is discussed. The difficulty in defining the pathogenesis of the ischemic episode is related to problems in the choice of antithrombotic treatment, which is still not standardized and must be decided on individual basis. In the event of rapid onset of stroke after exanthem high dose antiviral therapy seems to be justified. On the basis of our experience and of literature data on varicella-associated stroke, we recommend that VZV infection be taken into account in every episode of stroke in children.

Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.

The entire NF1 coding region was analyzed for mutations in a panel of 108 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 10 mutations which have never been reported before. Clinical diagnosis of NF1 was established according to the NIH consensus criteria in 100 individuals, while 8 were young children with only multiple cafè-au-lait spots. We detected 46 truncated fragments, and 24 of them were fully characterized by SSCP and direct sequencing. Of the 24, 14 were known mutations (R304X, R681X, Q682X, R1306X, R1362X, R1513X, R1748X, Q1794X, R1947X, Y2264X, R2237X, 2674delA, 6789delTTAC, 2027insC). The other 10 mutations represent novel changes that contribute to the germline mutational spectrum of the NF1 gene (K810X, Q2595X, 6772delT, 7190delCT, 7331delA, 1021insTT, 3921insT, 4106insTA, 7149insC, 2033insCG / 2034delA). PTT in a large number of Italian NF1 patients supports the usefulness of this method for characterization of mutations in disorders where the responsible gene is very large and the disease-causing mutations often create a stop codon. In agreement with previous reports, no mutational hotspots within the NF1 gene were detected.