[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2]. / Forme respiratoire néonatale létale de la maladie de Niemann-Pick C2 et diagnostic anténatal par l'étude des mutations du gène HE1/NPC2.

UNLABELLED: We report the fifth case of neonatal form of type C2 (NP-C2) Niemann-Pick disease with early and fatal respiratory distress. Eleven families presenting such cases are known to date in the world. Since December 2000, isolation of the underlying gene HE1/NPC2 and its mutations has allowed major advances in diagnosis. CASE REPORT: Elisa was born in May 2000. NP-C2 disease was associated with severe respiratory distress leading to death at the age of four months. On the next pregnancy in September 2000, prenatal diagnosis was performed by means of biological tests that required four weeks response time. In December 2000, isolation of the HE1/NPC2 gene located to 14q24.3 and of some of its mutations allowed to characterize the patient as being homozygote for the nonsense mutation E20X. On the the two next pregnancies, prenatal diagnosis was performed at 12 SA, in 48 hours, by the means of mutation analysis. The last fetus was heterozygote for the mutation E20X, allowing the birth at term of a healthy male newborn baby. CONCLUSION: Niemann-Pick type C disease is a rare lysosomal lipid storage disease with severe prognosis. It is characterized by abnormalities of intracellular transport of endocytosed cholesterol. Diagnosis relies on biological tests that require cultured cells. Genetic heterogeneity defines two different genetic complementation groups C1 and C2. Severe and early respiratory distress is more likely to be associated with the rare type C2. Since December 2000, after identification of the disease-causing mutations in the proband, mutation analysis of gene HE1/NPC2 on direct chorionic villus samples allows early and fast (48 hours) prenatal diagnosis.

[Congenital pulmonary lymphangiectasia revealed by cardiac arrest]. / Lymphangiectasies pulmonaires congénitales révélées par un arrêt cardiorespiratoire précoce.

UNLABELLED: Congenital pulmonary lymphangiectasia is a rare cause of respiratory distress in the neonatal period. Cardiac arrest may be its first manifestation. CASE REPORT: We report the case of a full term newborn who suffered at 30 min of life a sudden cardiac arrest. Despite intensive support, the patient died 5 h later. Lung examination showed pulmonary lymphangiectasia. CONCLUSION: Congenital pulmonary lymphangiectasia may be revealed by a sudden neonatal cardiac arrest. Pulmonary lymphangiectasia should be suspected in any newborn who develops early in life an unexplained refractory hypoxemia with radiographic reticulonodular images and uni or bilateral pneumothorax. The diagnosis is established at lung microscopy.

[Non-medical factors in perinatal health. A study of socioeconomic anc cultural features of women admitted to the maternity hospital in Lens (Pas-de-Calais)]. / Rôle des facteurs non médicaux dans la santé périnatale. Etude des caractéristiques socioéconomiques et culturelles de la population accueillie à la maternité du centre hospitalier de Lens (Pas-de-Calais).

BACKGROUND: The aim of this study was to determine the influence of medical and non-medical factors on perinatal health in an underpriviledged area, the ex-coal mines of Lens (Pas-de-Calais). POPULATION AND METHODS: This prospective study concerned 1,000 women who delivered in the maternity hospital of Lens between January 5, 1993 and May 13, 1993. The relationships between preterm delivery, low birth weight and maternal socioeconomic and cultural characteristics were analyzed. RESULTS: The women included presented adverse pregnancy outcomes. Preterm delivery, low birth weight and neonatal transfer rates were respectively 6.9%, 7.3% and 12.7% higher than the average regional rates. In contrast with these results, antenatal care could be considered correct or even better. The poor socioeconomic status of the population appeared to be a very significant perinatal risk factor. CONCLUSION: At present, in an unfavourable regional conjuncture, socioeconomic and cultural factors have adverse effects on perinatal morbidity and mortality independent of medical factors like prenatal care. The prevention of poor perinatal outcome should be based on these data. Not the access to the health care system but the manner of dispensing health care should require great consideration.

[An outbreak of allergy to horses in children. A review of 56 recent cases]. / Recrudescence de l'allergie au cheval chez l'enfant? A propos de 56 observations récentes.

Over the past 11 years, signs of allergy were observed in 56 children and adolescents in contact with horses. The cases consisted of 35 boys and 21 girls, 35 of them were under 10 years of age. The main clinical signs were ocular symptoms (36), asthma (30) and rhinopharyngitis (24). All the children had very positive cutaneous prick tests and specific IgE (class 3 and 4: 62%) and were polysensitized. In several children, the first manifestation occurred at the time of the first known contact with a horse or pony. No further contact was usually the only therapeutic solution. In disabled children, allergy to horses must be considered when clinical signs of allergy occur during therapeutic riding sessions.

[Does the allergic child become sensitized to small domestic mammals (guinea pig, hamster, rabbit?)]. / L'enfant allergique se sensibilise-t-il aux petits mammifères domestiques (cobaye, hamster, lapin)?

Our own works show among allergic children a frequency of sensitization of 30% to cats and of 17% to dogs. But, the proportion of sensitizations to other small domestic mammals such as guinea pigs, hamsters of rabbits seems to be unknown. Among atopic children with a known contact with those pets we noted: for guinea pig: 29% positive cutaneous or RAST tests 21% clinical signs in presence of animals; for hamster respectively 28% and 6.5%; for rabbit respectively 18% and 12.3%. Guinea pigs seem to be more sensitizing animals, followed by rabbits, then by hamsters. As for cats and dogs, eviction is imperative when a sensitization is demonstrated.

[Is it necessary to test children having summer respiratory problems with cereal pollens?]. / Faut-il tester aux pollens de céréales les enfants présentant des troubles repiratoires estivaux?

We tested 100 children with clinical signs that occurred in spring or summer. Prick tests were made with extracts of wild grass pollens (Dactylis, Phleum, Lolium) and with separate cereal pollens (Wheat, oats, Sweet-corn Barley and Rye). In 20 children whose test was negative for wild grass pollen, we saw no sensitization to cereals. In 80 children with grass pollenosis, Barley and Rye are the cereals that gave the most positive prick tests, whilst sweet corn is the cereal with most negative tests.

[Can Acarus siro be considered an allergenic mite in children? Evaluation of 248 cases]. / Acarus siro peut-il être considéré comme un acarien allergisant chez l'enfant? Bilan de 248 explorations.

Among 248 allergic children we noted 44 children (21%) with strongly or moderately positive cutaneous tests (In seven out of these tested children respiratory provocation tests are very positive). They are urban children and their houses are not different from other allergic children. They are mostly boys (72%), more than 5 years old (91%), with an asthma (84%), a radiological sinusitis (45%), an hypereosinophilia (88%) and elevated total IgE (90%). 43/44 children also have positive cutaneous tests to Dermatophagoides pteronyssinus mite. Since respiratory sensitivity is exquisite, we undertook a specific hyposensitization for some patients with encouraging results.

[Comparison of specific IgE levels versus various milk proteins in 76 eczematous children]. / Comparaison des dosages des IgE spécifiques vis-à-vis des diverses protéines du lait chez 76 enfants eczémateux.

Among 76 eczematous children, we realized a RAST test for whole milk and milk specific proteins: lactalbumin, lactoglobulin and casein. One of these RAST tests, at least, was positive for 27 children. Whole milk RAST test is the most frequently positive (77%) but some non specific reactions seem to interfere: only three children are clinically milk sensitive. Among specific proteins, lactalbumin is more frequently positive (59%) than lactoglobulin (51%) and casein (18%). Eczematous children with positive milk RAST tests, if compared to other eczematous children, have currently more mite allergies and positive egg RAST tests. They have a tendency (non significative) to be more frequently breast fed. The positivity of milk RAST tests seems to belong to a polysensitization and infrequently concerns a clinical allergy.

[Are the left-handed more often allergic?]. / Les gauchers sont-ils plus souvent des allergiques?

Are left handed more frequently allergic patients? With the same evaluation clinical criteria, we find a Non Right Handedness (left handed + mixed handedness) in 48/403 children (11.9%) at school in a town near our consultation place and in 152/625 (24.32%) children of the same age with a mites allergy (p less than 0.001). This non right handedness is among allergic patients more frequently observed for boys: 126/442 (28.50%) than for girls: 26/183 (14.20%). The mechanism is unknown but it has been hypothesized (Geschwind) that a male related factor might slow left hemisphere development and trouble immune system equilibration.

[Does immediate-type respiratory allergy occur regarding Stemphylium? Evaluation of 39 challenge tests]. / L'allergie respiratoire de type immédiat existe-t-elle vis-à-vis de Stemphylium? Bilan de 39 tests de provocation.

Does immediate respiratory allergy with stemphylium exist? About 39 provocation tests. We present 39 children with positive cutaneous and/or RAST tests for stemphylium mold. Provocation tests individualize 19 patients (14 boys and 4 girls, 10 to 16 years old in 17/19) with a respiratory sensitivity: 6/10 by passive anterior rhinomanometry and 13/15 by bronchial tests. Clinical symptoms are asthma and spasmodic rhinitis (14/19), predominantly from june to august. We noted a mite allergy in 11 cases and a grass pollenosis in 13 children. Positive cutaneous and/or RAST tests are found for alternaria mold in 13/19 cases. We undertook a specific hyposensitization in 14 children with a three years experience in 10 cases. Tolerance is excellent. This provocation respiratory exploration shows the important role played by stemphylium mold in the etiology of recurring respiratory incidents in children.

[Role of rhinomanometry in childhood mite allergy apropos of 76 cases]. / Place de la rhinomanométrie dans l'allergie aux acariens de l'enfant à propos de 76 explorations.

Place for Passive Anterior Rhinomanometry (PAR) in mite allergic children. PAR is a simple method to investigate chronic or recurrent rhinopathies in children. Among 59 investigations with a Dermatophagoides pteronyssinus extract, we found 27 positive responses, 3 doubtful results and 32 negative explorations. Nasal sensitization is usually important: the liminal dose is less than 250 mcg in 17/28 cases. Most children have no bronchial sensitivity. None of 14 children with negative cutaneous and RAST tests have nasal sensitivity. When cutaneous and RAST tests are both positive, 12/16 positive PAR are found. We note a nasal sensitivity in 3/5 cases with only cutaneous test positive and 12/26 cases with only RAST tests positive. For other mites a nasal sensitivity is found in 8 out of 14 explorations (Tyrophagus and Glyciphagus especially). Among all patients when cutaneous tests, RAST tests and history are doubtful for the real part played by mites in the child rhinopathy, nasal exploration allows more explicit diagnostic and therapy.

[Does mugwort pollenosis occur in children in the northern region?]. / La pollinose à l'armoise est-elle fréquente chez l'enfant dans la région nord?

Is Mugwort pollenosis frequent among children in North of France? In North of France where no ragweed grows, mugwort (artemisia) is after grasses and plantago, the third pollenosis in children. Among 184 children with summer clinical signs, positive cutaneous tests with a mugwort extract are noted in 40 patients (21%). RAST are positive only in 23 on 34 children with positive cutaneous test. Among the 40 children only two are less 5 years old and 26 are more 10 years old. Respiratory provocation tests confirm in 13/19 cases a sensitization of upper or lower respiratory tract. No food allergy exists among those children.