[Bi-symptomatic CINCA syndrome with inaugural urticaria and major articular lesions]. / CINCA syndrome bi-symptomatique avec urticaire inaugurale et lésions articulaires majeures.

BACKGROUND: CINCA syndrome (chronic infantile neurological cutaneous and articular syndrome) observed in young children associates chronic urticaria and rheumatological disorders which may cause deformation of the larger peripheral joints. Neurological signs develop later leading to severe prognosis: chronic meningitis, deafness, mental retardation. We present a bisymptomatic case which was distinctive by the absence of central nervous system involvement after 11 years of course. CASE REPORT: Since the age of six months a female child experienced chronic urticaria with nearly daily episodes. At two years limping was also observed. At nine years, the child had highly deformed knee joints giving a tumoral radiological aspect. The diagnosis of CINCA was made. At the age of 11 years, the child had normal psychomotor development and neurological and biological tests were normal. The knee deformations stablized and the child suffered little from the urticaria. DISCUSSION: This case of infantile chronic urticaria inaugurated a CINCA syndrome, a condition described in France and termed NOMID (neonatal onset multisystem inflammatory disease) in the English literature. Our case was similar to those reported in the literature showing characteristic skin, biological and rheumatological disorders. The absence of neurological involvement is exceptional and has been confirmed by regular surveillance to 11 years of age. Bone pathology showed a pseudotumoral aspect which has not been described previously.

Shaving: a simple and effective treatment for moderate congenital hypertrichosis.

Congenital hypertrichosis is a rare disorder. It is sometimes associated with facial dysmorphism, and dental and gingival abnormalities. This condition constitutes an esthetic problem and regular shaving with a simple razor can be a simple method of treatment.

[Focalized multiple beam radiotherapy: an alternative in the treatment of deep cerebral arteriovenous malformations]. / Radiothérapie multifaisceaux focalisée: une alternative pour le traitement des malformations artérioveineuses cérébrales profondes.

BACKGROUND: Cerebral arteriovenous malformations are usually treated by excision or selective embolization. Some untreatable malformations may be presently cured by radiosurgery. CASE REPORT: A 10-year-old girl without previous illness suffered from a sudden quadriventricular hemorrhage due to arteriovenous malformation. Initially the child recovered with symptomatic treatment. Neurosurgery and arterial embolization being impossible, Gamma-Unit treatment was performed. Treatment was first well tolerated but 8 months later, left hemiparesis and language disorders occurred, due to radionecrosis. These complications were dramatically improved by corticosteroids. CONCLUSION: Gamma-Unit treatment can be successfully proposed for treating those malformations that are inaccessible to surgery or embolization.

[Adrenoleukodystrophy in the child and adrenomyeloneuropathy. Study of 2 families]. / Adrénoleucodystrophie de l'enfant et adrénomyéloneuropathie. Etude de deux familles.

Ten subjects from 2 families with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN), hereditary X-linked diseases, were systematically explored. We performed endocrinological, biochemical assays and neurophysiological tests; the latter consisted of nerve conductions (CNV), Hoffmann's reflex and multimodal evoked potentials: visual (flash and pattern, VEP), brainstem auditory (BAEP) and somesthetic (SEP) using median nerve stimulation at the wrist. We only considered values above 2 SD. The purpose of our study was to determine the correlation between neurophysiological and endocrinological perturbations and the presence of pathological traits. Our results suggest that the correlation is high in diseased male patients, lower for the ALD carriers (BAEP, SEP and CNV were more frequently abnormal) and very low for the AMN carriers. Only the biochemical assays appeared to have any value for the characterization of female carriers of ALD and AMN.

[Suspicion of Haemophilus influenzae endocarditis of the bicuspid aortic valve in a 7-month-old infant]. / Suspicion d'endocardite à Haemophilus influenzae sur bicuspidie aortique chez un nourrisson de 7 mois.

The authors report a case of probable Haemophilus influenzae endocarditis in a 7 month-old infant with a bicuspid aortic valve. Precocity of the occurrence of endocarditis in such asymptomatic cardiac abnormality, scarcity of the suspected germ, and the observed mode of evolution are underlined. This case raises the problem of an endocardial involvement in an infant properly treated by adapted intravenous antibiotherapy. It can be concluded that regular clinical and echocardiographic examination is necessary for every case of severe Haemophilus influenzae infection.

[The value of echography in the early diagnosis of renal lesions in the Laurence-Moon-Bardet-Biedl syndrome. Apropos of a case]. / Intérêt de l'échographie dans le diagnostic précoce des lésions rénales au cours du syndrome de Laurence-Moon-Bardet-Biedl. A propos d'un cas.

The Laurence-Moon-Bardet-Biedl syndrome (LMBB) is characterized by the association of obesity, hypogonadism, polydactyly, mental retardation and pigmentary retinitis. Symptomatic or asymptomatic renal dysplasia (calyceal diverticula, precalyceal tubular ectasia, cysts) is frequently associated with LMBB. The authors consider renal sonography as the convenient investigation for an early detection of such dysplasia as in the case they reported here.

[Systemic scleroderma in children]. / Sclérodermie systémique de l'enfant.

A new case of systemic scleroderma in a child is reported. The frequency of this disease is much lower than focal scleroderma and than other connective diseases in childhood. Kidney and heart involvement is much less common than in adults. Raynaud's phenomenon and scleroderma however, as in this case, are often severe. The appropriate treatment has to be efficient towards sclerosis (D-penicillamine, corticosteroids), Raynaud's phenomenon (protection from cold, nifedipine) and other manifestations (prevention of gastric ulceration, physical therapy) and should consider every possible adverse effect on a growing organism.

[Apropos of a familial case of adrenoleukodystrophy related to X chromosome diagnosed prenatally]. / A propos d'une observation familiale d'adrénoleucodystrophie liée à l'X avec réalisation d'un diagnostic anténatal.

The juvenile type of adrenoleukodystrophy is a X linked genetic disorder involving the central nervous system and the adrenal cortex. It is associated with an abnormal metabolism of saturated very long chain fatty acids. The basic defect remains unknown and there is presently no effective treatment. The authors report a familial observation which illustrates the efficacy of the techniques of identification of heterozygote females carriers and of prenatal diagnosis from trophoblast biopsy.

[Familial adrenoleukodystrophy]. / A propos d'une observation familiale d'adrenoleucodystrophie.

Adrenoleucodystrophy (ALD) is an X-linked hereditary disease concerning very long chain fatty acid (VLCFA) metabolism. It affects cerebral white matter and adrenal cortex. In the adult form, (adrenomyeloneuropathy) we also find hypogonadism. The enzymatic anomaly, yet unknown, takes place in the peroxisome. The illness is diagnosed by plasma VLCFA amount determination. We actually have no efficient treatment. Prenatal diagnosis is possible, using both biochemical assays and linkage analysis to a DNA probe.

Metabolic pathway by cleavage of a furan ring.

14C-Diclofurime, a new Ca antagonist, was administered orally to dogs and pigs, and metabolites detected in urine and plasma. Metabolites contained in pooled urine were concentrated by column chromatography (reverse phase, gel permeation and normal phase). Chemical structures were determined by i.r. mass and 1H n.m.r. spectroscopy. The main route of Diclofurime biotransformation involved cleavage of the furan ring. Subsequent biotransformation steps involved N-deethylation in the side-chain and O-demethylation in the aromatic moiety of the drug. The major pathway is unusual for molecules with a furan heterocycle.

[Infant encephalopathies with rapid EEG rhythms. Apropos of 2 cases]. / Encéphalopathies du nourrisson avec rythmes rapides à l'EEG. A propos de deux cas.

The authors report two cases of infant encephalopathies with psychomotor retardation. The cerebrospinal fluid, the electroretinogram, the electromyogram and the motor conduction velocity are normal. The neuromuscular cutaneous conjunctival biopsies are normal. No biochemical abnormalities are found. The electroencephalogram presents continuous high voltage fast rhythms (250-400 microV) with reduced or absent evoked responses. Early infantile neuroaxonal dystrophy and lissencephaly are suggested.

[Hormonal profile and HLA typing of adult subjects from 7 families with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]. / Profil hormonal et typage HLA des sujets adultes de 7 familles d'hyperplasie congénitale des surrénales par déficit en 21-hydroxylase.

Most members of seven families in whom one subject was known to have congenital adrenal hyperplasia due to 21-hydroxylase deficiency were haplotyped for HLA B antigen which was supposed to be linked to the defective gene. Heterozygous males (group 1, n = 9), and females (group 3, n = 8) were recognized. These had no clinical abnormalities. All heterozygotes, as well as eight normal males (group 2) and ten normal females (group 4) received in IM injection of Synacthen. Plasma samples obtained before (PRE) and three hours after (POST) the injection was assayed for cortisol, testosterone, androstenedione, 17-hydroxyprogesterone, and dehydroepiandrosterone. All steroids increased significantly after ACTH except for testosterone. The ratio cortisol/17-OHP (F/17-OHP) decreased in group 1. POST 17-OHP (ng/ml) (x +/- SEM) was higher and F/17-OHP lower in groups 1 and 3 respectively: (5.83 +/- 1.83, 60 +/- 20; 4.53 +/- 1.13, 81 +/- 34) than in groups 2 and 4: (1.95 +/- 0.72, 196 +/- 67; 1.94 +/- 0.65, 269 +/- 167). POST F levels were not different among groups. When the distributions were standardized, individual POST 17-OHP levels of heterozygotes were different from the mean POST 17-OHP of the respective normal group and vice versa. The two normal males from the affected families could also be separated from heterozygous but not from normal males.

[Autochtonous kala-azar (author's transl)]. / Le kala-azar infantile autochtone en France. Etude des différents modes de transmission.

Kala-Azar or visceral "leishmanisis" is a Mediterranean parasitosis. Outside this area, the reported cases concern children having lived in an endemic area. Real autochtonous Kala-Azar is really exceptional in France. The authors report a case in a 18 month-old child, who had never left the city of Brest. The authors study similar observations in the literature, including an analysis of the different modes of transmission in such cases.

Spontaneous spinal epidural hematoma in a 22-month-old girl.

The authors report the case of a 22-month-old girl who developed cervical pain, neck stiffness, and quadriparesis over 12 days. An epidural hematoma was removed, with complete recovery after 6 months. There was no history of trauma. A search of the literature revealed eight previous cases of spontaneous spinal epidural hematomas in children under the age of 10 years.

[Accidental localized vaccinia. A report of six recent cases (author's transl)]. / La vaccine accidentelle localisée. A propos de six observations récentes.

Vaccination against smallpox should be discontinued in all countries except for individuals with a high risk of exposure (WHO, 1980). Since this vaccination is performed less and less often, one must expect complications to occur, the etiology of which may not be recognized. This course of events leads the authors to point out the difficulties in diagnosis and therapy of localized accidental vaccinia encountered in six patients hospitalized in Brest (1971-1979). Diagnosis is considered if the patient himself, or a person he came in contact with, was recently vaccinated. Diagnosis should always be established by virology. Such accidents can be avoided by a faultless vaccination technique and by giving sufficient information to the inoculated subject or to his relatives.