Prenatal Detection of Coarctation of the Aorta in a Non-selected Population: A Prospective Analysis of 10 Years of Experience.

The objective of this study was to assess the ability of different parameters to identify fetuses requiring neonatal care for coarctation of the aorta (CoA). Between January 2003 and December 2012, 175 fetuses referred for great vessel disproportion were divided into two groups: group A (n = 51) with high risk of CoA and delivery planned in tertiary care referral center and group B (n = 124) with no increased risk of CoA. In group A, diagnosis of CoA was confirmed in 38/51 (74 %). In group B, 2/124 had CoA. Multiple logistic regression analysis identified the best combination as diffusely hypoplastic and/or angular aortic arches, ventricular septal defect and aortic valve diameter <5 mm at 36-week gestational age (GA). Positive predictive value was 75 % when vessel disproportion was noted before 28-week GA and 73 % in the third trimester. Postnatal diagnosis involved 38 cases of CoA which had not been referred. One case of CoA diagnosed after birth was referred prenatally for difficulty of screening without any defect. The results of our prospective study are in agreement with those of previous series, but our false positive rate was lower especially when the diagnosis of vascular disproportion was made at third trimester. The performance of fetal cardiac screening does not seem to be very good, but prenatal diagnosis is probably not always possible: Among our three false negative cases, two had isolated vascular disproportion and the third no risk factors.

[Bullous mastocytosis in infancy: a rare presentation]. / Mastocytose bulleuse diffuse du nourrisson : une forme clinique rare.

Mastocytosis is a rare condition related to an abnormal proliferation of mast cells and their accumulation in tissues. Cutaneous mastocytosis is the most common form and mainly affects newborns and infants. The symptoms are caused by the release of mediators contained in mast cells, including histamine. Mastocytosis may be associated with a mutation in the gene encoding the c-kit receptor. Clinically, there are different dermatological findings, which combine acute cutaneous, digestive, or even hemodynamic manifestations in varying degrees. The diagnosis is confirmed by the histological study of a skin sample. We report here the case of a 4-month-old infant suffering from diffuse cutaneous bullous mastocytosis, a very rare variety of mastocytosis. This infant had an erosive and bullous manifestation of dermatosis, initially confused with impetigo. The proliferation of bullous lesions led to her hospitalization. Codeine intake for pain was responsible for a large and extensive bullous reaction associated with anaphylactic shock. This context of bullous spread occurring after taking codeine led to the suspicion of bullous diffuse cutaneous mastocytosis, a diagnosis that was confirmed histologically. This observation demonstrates the difficulty of mastocytosis diagnosis, mostly due to its rarity, especially in its diffuse bullous forms. The rapid deterioration of this patient, after the codeine prescription, emphasizes the importance of the eviction of histamine-releaser compounds in the management of this disease.

[Early onset pediatric sarcoidosis, diagnostic problems]. / Sarcoïdose à début précoce, difficultés diagnostiques en pédiatrie.

Sarcoidosis, a chronic multisystem inflammatory granulomatous disorder of unknown origin, is a rare disease in children. Two distinct clinical presentations of sarcoidosis in childhood are known. Older children usually show multisystem disease, close to the adult manifestation, with lung infiltration and frequent hilar lymphadenopathy. Prior to the age of 5, sarcoidosis reveals more frequently with the classical triad of rash, arthritis, and uveitis. Due to non-specific clinical features and the lack of a specific test, recognizing sarcoidosis can be difficult in the pediatric population. Moreover, unlike in adults, lung involvement is rare in pediatric sarcoidosis. Given the lack of a definitive blood test, the World Association of Sarcoidosis and Other Granulomatous disorders (WASOG) only recommends dosing the serum angiotensin-converting enzyme (ACE). Its level is usually higher in children than in adults, but an increased ACE may help in the diagnosis. The gold standard is a biopsy specimen with typical epithelioid gigantocellular granuloma without caseating necrosis granuloma, after other disorders known to cause granulomatous disease have been reasonably excluded. We report here the case of a 4.5-year-old male with the history of polyarthritis and uveitis, considered first as juvenile rheumatoid arthritis, followed 5 years later by cutaneous involvement, which led to reconsidering the diagnosis. There were no pulmonary clinical findings. Histology provided the diagnosis of sarcoidosis. He then developed dependence on steroids. The lack of the classical triad delayed the diagnosis several years. This case shows the pediatric singularity of sarcoidosis, which needs to be known so that early and appropriate follow-up can be conducted.