[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.

[Use of interferon in a case of hepatic hemangioma]. / Utilisation de l'interféron dans un cas d'hémangiome hépatique.

UNLABELLED: Hepatic hemangioendothelioma can have a fatal outcome. After failure of classic therapies, and when surgery or arterial embolization are not possible, those benign tumours may benefit from interferon alpha treatment. CASE REPORT: We report a case of a 14-month-old infant who presented with hepatic hemangiomatosis and cardiac failure. The disease can neither be controlled by steroids nor by radiotherapy associated with digitalo-diuretic treatment. Due to the important vascular volume of the tumour, neither surgical care nor arterial embolization were possible. Thus this infant was treated for ten months by interferon alpha. The evolution was favourable: cardiac failure, calcifications and volume of the angiomatosis were regressive. CONCLUSION: Interferon alpha treatment helps to control cardiac failure and the course of hepatic hemangioma in childhood.

[Lyme disease in Upper Normandy: report of a hospital survey]. / Maladie de Lyme chez l'enfant en Haute-Normandie: à propos d'une enquête hospitalière.

This study presents the results of a hospital survey on Lyme disease in children living in upper Normandy, a region that is quite densely wooded (with 18% forest areas and woods). The aim of this survey was to assess the prevalence of this disease in children from the Seine-Maritime and L'Eure, hospitalized in pediatric wards in the Seine-Maritime department, which includes Rouen, Dieppe, Fécamp, Elbeuf, and Le Havre. Fifteen cases of Lyme disease were diagnosed between September 1988 and June 1997. The children (6 girls and 9 boys) were aged between 5 and 14 years old. Only 7 subjects showed primary symptoms, while secondary symptoms were observed in 12 children. In the study population, a high prevalence (11 out of the 15 children) of neurological disorders was found. The following secondary symptoms were noted: 5 cases of erythema migrans, 2 cases of non-malignant cutaneous lymphocytoma, and 4 cases which in fact had previously displayed primary clinical signs (3 subjects with erythema migrans and 1 subject with non-malignant cutaneous lymphocytoma); 7 cases of uni- or bilateral facial paralysis, the most frequent neurological manifestation with or without lymphocytic meningitis; 1 case of central vestibular syndrome with a hyperalgesic meningoradicular reaction in the vicinity of the tick bite; 1 case of peripheral radicular involvement and intense pain in the left lower limb; 4 cases of ocular disorders (3 diplopias, 1 bilateral conjunctivitis complicated by kerato-uveitis, 1 bilateral complete cecitis). Only 10 child had rheumatological symptoms, i.e., Lyme arthritis of the right knee. Treatment consisted of amoxicillin (10 children) administered at a dosage of 50 to 100 mg/kg/d over a period ranging from 10 days to 1 month, or ceftriaxone (7 children) at a dosage of 50 to 100 mg/kg/d administered intravenously over a period ranging from 8 days to 3 weeks. Two of the children received combined antibiotic therapy, and 5 subjects had adjunct corticotherapy.

[Benign infantile convulsions. French collaborative study]. / Convulsions bénignes du nourrisson. Etude collaboratrice française.

BACKGROUND: Benign infantile non febrile seizures are not well known, leading us to study their clinical and EEG characteristics. METHODS: Between 1981 and 1994, we assembled 34 patients with the following inclusion criteria: non febrile seizures between 1 month and 2 years of age, normal personal history, no abnormality on clinical, biological and radiological investigations, normal developmental outcome with at least 1 year follow-up. RESULTS: These 34 patients were recognized as 14 familial cases (identical seizures affecting parents) and 11 non familial cases. The other nine cases had different or undefined epilepsy in the family. The clinical and EEG characteristics were the same: at the mean age of 6 months, brief partial seizures (often secondarily or apparently generalized) occurring in a cluster of two to 12 episodes a day for a mean duration of 2.5 days, with ictal EEG showing focal discharge, often slow waves or focal spikes on post-ictal tracing and normal interictal EEG. CONCLUSION: The clinical and EEG characteristics are important in order to recognize this type of infantile convulsions (familial or not familial), which have a good prognosis and need no aggressive treatment.

[Early myoclonic epileptic encephalopathy and non-ketotic hyperglycemia in the same family]. / Encéphalopathie myoclonique précoce et hyperglycinémie sans cétose dans une même fratrie.

BACKGROUND: Neonatal myoclonic encephalopathy is of lesional or metabolic origin; non ketotic hyperglycinemia is one of its causes. CASE REPORT: A girl, born from consanguineous parents, died from myoclonic epileptic encephalopathy at the age of 3 months. Screening for metabolic disease was negative, except for increased levels of urine serotonin and 5-hydroxyindol-acetic in cerebrospinal fluid, blood and urine. Two sisters died with non ketotic hyperglycinemia, corpus callosum agenesis and clubfoot. CONCLUSION: Familial occurrence of non ketotic hyperglycinemia and early myoclonic epileptic encephalopathy is uncommon.

In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.

The in vivo oxidation of fatty acids (FA) of different chain length was investigated in three patients with documented mitochondrial FA oxidation disorders: one patient with mild multiple acyl-CoA dehydrogenase deficiency (MADM), one with medium chain acyl-CoA dehydrogenase deficiency (MCAD), and one with carnitine palmitoyltransferase I deficiency (CPT I). Breath tests were performed after oral administration of 1-13C butyric. 1-13C octanoic, and 1-13C palmitic acids. 13C/12C ratio in the expired oxidative end product CO2 was measured. The cumulative 13C elimination was calculated and expressed as a percentage of the administered dose. In the MADM patient the influence of carnitine therapy (or deprivation) on the utilization of 1-13C palmitic acid was also examined. In the MCAD and CPT I patients, the 1-13C butyric, 1-13C octanoic and 1-13C palmitic acids in vivo oxidation were similar to five healthy controls. In the MADM patient, the oxidation of 1-13C butyric and 1-13C octanoic acids were normal, whereas the metabolism of 1-13C palmitic acid ranged from 33% of 66% of controls. In this patient the serum carnitine level decreased from 60 to 27 mumol/l without carnitine supplementation. Clinically there was mild hypotonia. 1-13C palmitic acid oxidation compared to controls was 50%. After 2 further weeks of carnitine deprivation the serum carnitine was 10-15 mumol/l. Clinically he was very hypotonic and had a large liver. 1-13C Palmitic acid oxidation was 33%. After 6 weeks of readministration of carnitine (L-carnitine 100 mg/kg/day p.o.) the serum carnitine was 60 mumol/l and the patient was in good clinical condition. 1-13C palmitic acid oxidation was 66% compared to controls. Our study implies that this simple fatty acid breath test is not of diagnostic use for detection of enzymatic defects in FA oxidation disorders. The carnitine dependent 1-13C palmitic acid oxidation indicates that this test might be of some value in cases with primary or secondary carnitine deficiencies.

Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases.

Five children presented in the first months of life with progressive megalencephaly and leukodystrophy characterized by diffuse swelling of the white matter, cystic cavitations in frontal and temporal lobes, and a slow progressive course contrasting with the intensity of the leukodystrophic process. Four had epilepsy. Two were brothers and three had consanguineous parents. No metabolic defect was detected. The clinical and magnetic resonance imaging features are similar to those of patients previously reported. These five new cases add arguments to delineate a new type of leukodystrophy with megalencephaly in infancy and autosomal recessive inheritance.

[Epidemiology of infantile asthma in the Le Havre region]. / Epidémiologie de l'asthme infantile dans la région du Havre.

BACKGROUND: Prevalence of asthma is influenced by environmental factors which may be different from area to area. POPULATION AND METHODS: A cross-sectional epidemiological survey was carried out among 1,395 children attending primary schools in the city of Le Havre and the canton of Fécamp (Haute-Normandie). Questionnaires including data about the disease, family history, environmental and socio-economic factors were completed by the school physician in presence of the parents. RESULTS: Prevalence rate of asthma calculated from 1,193 questionnaires was 7.8%. The logistic regression curves pointed out four risk factors: family history of asthma (odds ratio: 2.52) or hay fever (OR: 1.98), atopic dermatitis (OR: 3.96), and parental smoking (OR: 1.79). Sex, socioeconomic status of parents, type of housing, presence of pets in the house were not related to prevalence of asthma. Frequency of cough during the day was only significantly different between both areas. CONCLUSIONS: The high level of school absence (21.1%) and frequency of hospitalizations for acute asthma (20.4%) should lead health professionals and educators to improve management of asthma in these areas.

[Respiratory manifestation of Crohn's disease. Apropos of a case in an adolescent]. / Manifestations respiratoires de la maladie de Crohn. A propos d'un cas chez un adolescent.

The authors report an original case of Crohn's disease in a teenager with breathlessness and alveolar lymphocytosis. This respiratory involvement is uncommon in pediatric. About the literature, the authors review the significant and the prognostic value of alveolitis in Crohn's disease.

[Isolated acute peripheral facial paralysis in children. Etiological and prognostic study]. / Paralysies faciales périphériques aiguës isolées de l'enfant. Etude étiologique et pronostique.

BACKGROUND: As facial nerve palsy is usually of sudden onset and of obscure etiology, a survey of large series may provide new information. PATIENTS AND METHODS: The files of 40 children suffering from acute facial nerve palsy seen in 3 pediatric and 1 otorhinolaryngologic (ORL) departments between 1980 and 1990 were analysed. Patients with congenital palsy and those with paralysis that appeared after injury or in the course of acute or chronic disease (otitis media, tumor) were excluded from the study. The children were 9 months-16 years old (mean: 7 year 1 month). There were 22 left and 18 right facial nerve palsies. The palsy was moderate in 17 children, severe in 15, and total in 5. Etiologic factors (viral serologic studies, CSF examination), ORL studies and electromyogram of the facial nerve were analyzed in the majority of cases. Corticosteroids were used in 30 patients. RESULTS: A viral etiology was suspected and/or confirmed in 13 children; abnormalities were seen in 6 of the patients who underwent lumbar puncture. A familial facial nerve palsy was seen in 1 case and kidney disease in 2 cases. 23 cases appeared to be idiopathic. A moderate permanent residual weakness was seen in only 4 children. The mean time for recovery was 32 days (4-140 days). Corticosteroids did not influence the incidence of complete recovery, but decreased the time for recovery (26 versus 37 days) only in the patients who were treated before the 3rd day of the disease. Patients with idiopathic palsy recovered 23 days before those with viral etiology. CONCLUSIONS: Idiopathic and post-viral facial nerve palsies seem to have an excellent prognosis. Corticosteroids seem to have no effect although there is some evidence of benefit when treatment is begun early.

Infantile neuropathy with unstable myelin: study of the P0 protein.

An unusual form of hereditary motor and sensory neuropathy characterized by a prominent disruption of the myelin lamellae is reported. In addition to detailed morphological analysis, we investigated the protein P0, which is the major protein of peripheral myelin involved in adhesion. No major gene rearrangement and no differences in P0 protein expression were observed in the present case.

[Esophageal pH monitoring in children. Methodological aspects and a review of the literature related to indications]. / La pH-métrie oesophagienne chez l'enfant. Aspects méthodologiques et étude de la littérature en fonction des indications.

Because it offers high sensitivity and specificity, esophageal pH monitoring has become the reference method for the diagnosis of gastroesophageal reflux. This review was undertaken to evaluate methodologic problems raised by this method, involving selection of the electrode, selection of equipment, and criteria of normality according to the patient's symptoms. In some instances, multiple recordings are needed to detect correlations between clinical symptoms and esophageal pH, cardiac and respiratory tracings and esophageal pH, or oxygen saturation and esophageal pH. These studies allow improved qualitative interpretation of results. Emphasis is put on the value of esophageal pH recordings for the evaluation of medical or surgical therapies.

[A prognostic study of cryptogenic infantile spasms]. / Etude pronostique des spasmes infantiles cryptogéniques.

The prognosis of infantile spasms is grim when a detectable brain lesion is present. In contrast, cryptogenic infantile spasms, in which there is no identifiable brain lesion, usually run a favorable course under treatment. Few studies have focused on the outcome in children with cryptogenic infantile spasms. Among 111 pediatric patients with a history of infantile spasms hospitalized over 18 consecutive years, 23 (21%) were given a diagnosis of cryptogenic infantile spasms. Follow-up ranged from 4 to 21 years. Outcome was as follows: the IQ was above 80 in 39% of cases and above 100 in 13% of cases; 42% of patients of school age were attending school but half of these had learning disabilities; 30% of patients had severe psychiatric disorders, and 22% had developmental delay and severe epilepsia. Early factors apparently associated with a good prognosis included the mild nature of psychomotor regression, persistence of spindles on EEGs recorded during NREM sleep, and prompt improvement of clinical status and EEG recordings under treatment. Conversely, severe regression, focalized EEG anomalies, failure of development to resume promptly after initiation of therapy, recurrence of spasms and hypsarrhythmia at discontinuation of treatment, and onset before 5 months or after 11 years of age were associated with a poor prognosis.

[Inflammatory joint disease as a manifestation of Toxocara canis larva migrans]. / Arthropathies inflammatoires révélatrices d'une larva migrans à Toxocara canis.

We report a case of migrating joint involvement occurring as the first manifestation of Toxocara canis larva migrans. We also reviewed the literature on joint disease caused by parasitic infections. Diagnostic criteria are described. We suggest that an immunoallergic mechanism is involved. Furthermore, the therapeutic trial with thiabendazole contributed usefully to the diagnosis in our patient.

[Neonatal cytomegalovirus infection with development of liver fibrosis]. / Infection néonatale à cytomégalovirus à évolution hépatique fibrogène.

Neonatal cytomegalovirus hepatitis usually recover completely. The authors report a case evolving toward fibrosis, mostly perisinusoidal and with mild biliary hypoplasia. Similar cases with portal hypertension previously published are reviewed.