[Pediatric cutaneous mastocytosis]. / Cas clinique : La mastocytose cutanée pédiatrique.

Mastocytosis are orphan diseases characterized by the accumulation of mast cells in one or more organs. A distinction is made between systemic forms (10 %) and pure cutaneous forms (90 %), the latter being mainly pediatric and generally having a spontaneously favourable prognosis. In the absence of a systemic sign, the diagnostic criteria for cutaneous mastocytosis are Darier's sign, in principle, pathognomonic, as well as skin histology confirming mast cell infiltration. The treatment is essentially preventive (avoidance of factors triggering degranulation) and symptomatic (antihistamine agents).

Les mastocytoses sont des maladies orphelines caractérisées par l'accumulation de mastocytes dans un ou plusieurs organes. On distingue les formes systémiques (10 %) des formes cutanées pures (90 %). Ces dernières sont principalement pédiatriques et ont, généralement, un pronostic spontanément favorable. En cas d'absence de signe d'appel systémique, les critères de diagnostic de mastocytose cutanée sont le signe de Darier, en principe, pathognomonique ainsi que l'histologie cutanée affirmant l'infiltration mastocytaire. Le traitement est essentiellement préventif (éviction des facteurs déclenchant la dégranulation) et symptomatique (médicaments antihistaminiques).

[The clinical case of the month. Malignant whooping cough in an infant]. / Le cas clinique du mois. Coqueluche maligne du nourrisson: à propos d'un cas.

Morbidity and mortality of whooping cough remain significant among infants despite vaccination. This article presents a case of whooping cough with complications in a 3 month old infant who had already received his first dose of anti-pertussis vaccine at 2 months and 3 weeks of age.

Gas exchange and heart rate kinetics during binary sequence exercise in cystic fibrosis.

MATERIAL AND METHODS: Gas exchange and heart rate (HR) kinetics were investigated in 20 patients with cystic fibrosis (CF) by using a pseudorandom binary sequence (PRBS)-technique. Electrocardiogram was continuously recorded, and VO2, VCO2 and ventilation/min (VE) responses to a multifrequent input signal were measured by means of breath-by-breath analysis. Lag time and peak value in the time-domain, and amplitude ratios in the frequency-domain were calculated to characterize the crosscorrelation functions between input and responses, and compared to normal ranges. RESULTS: Time and frequency domain parameters are abnormal for VO2, VCO2 and VE responses in moderately and severely ill patients, and for the HR response only in severely ill patients. Correlations are shown between those parameters, the severity of the illness evaluated by the Shwachman score and the level of impairment of the pulmonary function. CONCLUSION: The PRBS-technique is a useful tool to investigate the gas exchange and HR kinetics in CF patients, that offers many advantages: (1) no explicit mathematical models are assumed, (2) it is a walking test that may be used even in very young or severely ill patients, and (3) it challenges the ability to adapt to non-steady state exercise and is therefore representative for daily activities.

Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity.

We report a boy and girl with a "new" multiple congenital anomalies/mental retardation syndrome which resemblances Sjögren-Larsson syndrome. Both patients had a concordant pattern of anomalies consisting of congenital lamellar ichthyosis with spontaneous improvement, moderate mental retardation, mild pyramidal involvement, telecanthus, flat facies, stubby long bones, and coxa valga. Severe myopia, ventriculoseptal defect, and postaxial polydactyly were present in the girl who had more severe bone involvement with dense, enlarged metaphyses, vertebral dysplasia, and advanced skeletal maturation of the lower limbs. Long-chain fatty alcohol NAD+ oxidoreductase (FAO) and steroid sulfatase were normal.

LAV/HTLV-III infection in children of African origin: experience in Belgium.

From December 1982 to June 1985, we diagnosed LAV/HTLV-III infection in 16 children of African origin living in Belgium or referred to one of the hospitals participating in this study. Diagnosis was proven in seven of them by isolation of virus of the LAV/HTLV-III group. In the nine others, LAV/HTLV-III infection was highly probable because of the presence of antibodies against the virus (seven subjects) or clinical and immunological evidence of immune deficiency associated with a parental history of LAV/HTLV-III infection (two subjects). Five of these children had a severe illness starting in the first months of life (range 20 days--4 months) and died within 4 months (range 19 days--10 months). Eight children presented later in life (mean age 35 months, range 2-66 months) with a milder and more chronic disease characterized by the presence of generalized lymphadenopathy (6/8), hepatomegaly (5/8), splenomegaly (5/8), interstitial pulmonary infiltration (4/8), parotid swelling (3/8), CSF lymphocytosis (3/5), diarrhoea without pathogen isolated (1/8) and fever (1/8). At least one of the parents of each child was of African origin. At the time of birth of their child two mothers and one father had an AIDS-related complex. After a mean period of 34 months (range 3-87 months) five fathers and six mothers had a symptomatic LAV/HTLV-III infection (AIDS or AIDS-related complex).