B. Gilbert

Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6

We have investigated the lipoprotein lipase (LPL) gene of a 2-year-old patient presenting classical features of the familial LPL deficiency including undetectable LPL activity. DNA sequence analysis of exon 5 identified the patient as a homozygote for the Gly188Glu mutation, frequently involved in this disease. A review of cases of LPL deficiency with molecular study of the LPL gene showed a total number of 221 reported mutations involved in this disease. Gly188Glu was involved in 23.5 % of cases and 74.6 % of mutations were clustered in exons 5 and 6. Based on these observations, we propose a method of screening for mutations in this gene.

Bilateral anophthalmia and oesophageal atresia in a newborn female: a new case of the Anophthalmia-oesophageal-genital (aeg) syndrome

A newborn female is described with bilateral anophthalmia and oesophageal atresia. This is the seventh reported case of the Anophthalmia-Oesophageal-Genital (AEG) syndrome.

Technique d'utilisation de la chambre d'inhalation avec masque facial dans l'asthme. Evaluation chez 60 enfants âgés de moins de quatre ans

Spacers with face masks are widely used for the treatment of asthma in young children. A poor inhalation technique may compromise the treatment’s efficiency. Methods. – The inhalation technique of spacers with face masks was evaluated in a prospective study of 60 children below four years of age. A checklist of 12 items was used, each one being coded by zero or one, and a total score ≤ 12 points was calculated. Results. – Mean total score was 8.93 ± 1.84 (extrems: 6–12). The canister was shaken before use in 48.3% of cases, one puff delivered when the child was breathing in 71.7% and the valve’s mobility checked in 85%. The canister was shaken before the second puff in 13.3% of cases and two consecutive puffs individualized in 28%. Discussion. – The usual mistakes are lacking to shake the canister and consecutive puffs’ individualization. Medical partners and families education should be reinforced.

Histiocytose de Langerhans et fibrose médullaire.

The worldwide eradication of poliomyelitis is expected within a few years. A reinforcement of epidemiological, clinical and viral supervision is necessary. Besides a sustained immunization effort, particular attention is required from all clinicians concerning the cases of non-traumatic acute flacid palsy that they may observe. In these cases it is asked to clinicians to perform a search for enterovirus in stool and spinal fluid, and a poliomyelitis serology.

Maladie de Hodgkin de localisation intrathoracique pure. À propos d'un cas

UNLABELLED Hodgkins disease without peripheral lymphadenopathy or hepatosplenomegaly is exceptional. CASE REPORT Hodgkins disease was revealed by lung nodules, one of them cavitating, with mediastinal enlargement. Diagnosis was confirmed on a video-assisted pleuroscopic biopsy. CONCLUSION Hodgkins disease should be considered in case of mediastinal enlargement with lung nodules.