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Biomedical subjects

D Fontan

Publications and source records attributed to D Fontan.

At least 55 records · Page 3Linked to original sources
PubMed1988

[Immunologic changes in linear scleroderma in children. Apropos of 11 cases].

Immunologic data collected in 11 children (6 girls and 3 boys under fourteen) presenting with linear scleroderma were analysed in a retrospective study: 2 children presented with superficial linear scleroderma, 6 with monomelic scleroderma, 1 with dimelic scleroderma, 1 with the "en coup de sabre" variety associated with dimelic homolateral involvement, and another with "en coup de sabre" scleroderma combined with facial hemiatrophy: Antinuclear antibodies (ANA) were demonstrated in 9/11 cases (i. e. 81 p. 100). The immunofluorescence staining pattern was homogeneous in all nine with a low titer (less than 250 in 5 of them). ANA to single stranded DNA was present in 1/3. The demonstration of ANA in these 9 children was correlated with deep or extensive sclerosis with muscular involvement in 7. But neither the presence nor the titer of ANA were correlated with the subsequent development of osteoarticular sequelae. The level of total complement appeared to be lowered in 3/8 cases. No renal involvement was demonstrated. Blood tests for circulating immune complexes were positive in 4/8 patients. Skin biopsy for direct immunofluorescence was performed in 6 children and demonstrated immunoglobulin deposits in 4: three had IgM fixation on the dermo-epidermal junction, and one had speckled fixation of IgG on epidermal nuclei (this has not previously been reported in localized scleroderma). There data highlight: a--the high frequency of ANA in linear scleroderma.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1987

[Acute chondrolysis on primary protrusio acetabuli in children].

Two cases of acute chondrolysis of the upper femoral epiphysis associated with protrusio acetabuli are reported in two girls respectively 13 and 12 Y.O. The disease was unilateral in one patient and bilateral in other. Acute chondrolysis is characterized by onset of pain, restricted movements of the hip and evolution to an hip ankylosis within a few months. As usual no evidence of inflammatory disease could be shown at biology or at pathology of synovial membrane or of femoral head. CT and MR studies proved to be contributive in the first case. It's the author's opinion that in these 2 cases, chondrolysis appears as a complication of preexistent Protrusio Acetabuli.

Acetabulum↗
PubMed1987

[Magnetic resonance imaging in spinocerebellar degenerative diseases (apropos of 8 cases)].

The results of NMR imaging in 8 cases of spinocerebellar degenerative diseases (age 4 to 19 years) are presented. In Friedreich ataxia (5 cases), spinal atrophy was constant and often severe, and was associated with a moderate cerebellar and/or bulbar atrophy in 3 cases. In hereditary spastic paraplegia, the only finding was a mild spinal atrophy in 2 of the 3 cases.

Adolescent↗
PubMed1987

[Medulloblastoma of the posterior cranial fossa. A second tumor after Hodgkin's disease].

The case of a child presenting with Hodgkin's disease (stage I A, mixed cellular type) at the age of 23 months is reported. Chemotherapy (six treatments with MOPP) enabled a clinical remission, but an in situ relapse with the same histological pattern was observed at the age of 3 years and 9 months. After local irradiation, a second complete remission was observed. At the age of 6, a clinical picture of intraskull hypertension with ataxia, lead to the diagnosis of posterior cavity tumor. Complete excision was performed and the pathological examination showed a typical medulloblastoma. Adjuvant radiotherapy was carried out. Eight months later, a fatal plurifocal medullar relapse was observed. Second tumors in Hodgkin's disease are well known. However, this new case appeared to be the first report of a medulloblastoma after Hodgkin's disease.

Cerebellar Neoplasms↗
PubMed1986

Congenital muscular dystrophy and cerebral CT scan anomalies. Results of a collaborative study of the Société de Neurologie Infantile.

We present the results of a collaborative study on the association of congenital muscular dystrophy with central nervous system anomalies revealed by CT scan investigation of 10 patients. In seven children, an abnormal hypodensity of the cerebral white matter is found; in four of these patients, this radiological anomaly is either isolated, or associated with a moderate intellectual impairment; in one case, severe mental retardation and ocular changes had occurred; in the other two cases, the muscular disease was progressing slowly, in association with microcephaly, epilepsy, and moderate mental retardation. Three children were afflicted with a severe early encephalopathy and congenital muscular dystrophy, and presented signs of cortical and subcortical atrophy on CT scan. Two of these patients corresponded to different types of cerebro-ocular dysplasia-muscular dystrophy syndromes, and the third patient of Fukuyama's congenital muscular dystrophy. These observations are discussed and compared with those reported in the literature. The authors emphasize the need to investigate possible cerebral CT scan anomalies in congenital muscular dystrophies, and to look for muscular changes in some prenatal encephalopathies.

Atrophy↗
PubMed1986

[Post-angina septicemia caused by Fusobacterium necrophorum in a 7-year-old child].

A fusobacterium necrophorum septicemia due to a neglected peritonsillar abscess is reported in a 7 year-old boy with no significant past medical history. Osteo-articulary, hepatic and pleuro-pulmonary septic localizations, with an otherwise favourable outcome left severe orthopedic sequelae in the right hip. This resembles the post-peritonsillar abscess septicemia described by Lemierre in 1936 which was due to an anaerobic bacillus (fusobacterium). The reappearance of this pathology should lead to systematic anaerobic blood and abscess studies. Penicillin G and Metronidazole are still efficient in controlling this organism.

Child↗
PubMed1985

[Meningeal hemorrhage, a symptom disclosing spinal tumor in children].

One case of subarachnoid haemorrhage due to a spinal cord tumor, seen in a child, is reported. This exceptional etiology, whose the look is often misleading must be called to mind when meningeal and rachidian syndromes are associated. Ependymoma of cauda equina is the most common tumor.

Adolescent↗
PubMed1984

[The r(14) syndrome. 3 new observations].

Three observations of r(14) are reported. Constant features of r(14) syndrome are the following: moderate but typical craniofacial dysmorphism, seizures and other neurological abnormalities, abnormal retinal pigmentation, and recurrent respiratory infections. The value of gene dosage evaluation for genes mapped to the distal segment of 14q, particularly the Ig heavy chain genes, is emphasized.

Abnormalities, Multiple↗
PubMed1982

[Urticarial rash in cow-milk allergy (author's transl)].

Five recent cases of urticarial rash with cow-milk allergy are reported. They all occur at the time of weaning in children who have been sucking during at least three weeks. In three of those cases, digestive manifestations were also found. The histological pattern of the skin showed a vasculitis with deposits of fibrinogen and complement. The steadily high rate of IgE and positive cow-milk RAST in five cases give arguments for reaginic allergy in extra digestive manifestations of cow-milk proteins allergy. The treatment is the suppression of cow-milk and of any products which might contain milk proteins. Our cases had a favorable evolution.

Animals↗
PubMed1980

[Interest of ultrastructural study of skin and muscle biopsies in inborn storage diseases. A report of 18 cases (author's transl)].

Skin and muscle biopsies were performed in 18 patients affected by various inborn storage disorders: mucopolysaccharidosis (MPS), sphingolipidosis, GM1 gangliosidosis, I-cell disease, ceroid-lipofuscinosis (CLF), adrenoleucodystrophy (ALD) and glycogenosis. In most cases, cutaneous and muscle biopsies demonstrate clearly the presence of storage inclusions in different cell types with great reproducibility and sometimes a specificity for a particular disease. Thus, electron microscopic examinations of skin and muscle, often complementary, can given valuable informations at two levels: - either a morphological confirmation depending on the type of the storage disease: e. g. clear, granular and fuzzy inclusions identified with mucopolysaccharidic material, lamellar and pseudomyelinic figures corresponding to lipidic structures are found in different cell types in MPS, gangliosidosis and sphingolipidosis; - or a diagnostic proof of some lysosomal diseases where there are very specific ultrastructural features such as the curvilinear bodies and fingerprint profiles in CLF or the spicular inclusions in ALD. These informations are the more important as the enzymatic defect is unknown in these inherited disorders. We conclude that the ultrastructural examination of a skin and muscle biopsy are an important tool for the diagnosis of a lysosomal storage disease which avoids any more difficult biopsies as brain, kidney, liver.

Adolescent↗
PubMed1978

[Evoked potentials in movement epilepsy (a report on 4 observations) (author's transl)].

A study of evoked potentials; visual (V.E.P.) auditory (A.E.P), and somatosensorial (S.E.P.) in 4 cases of movement epilepsy. Their correlation to clinical findings (provoking factors, control of the attacks), electroencephalographic and neuroradiological (scanner) data, shows that two types of information can be obtained: lesional and functional. Three types of modification can be described: a) the topographically limited changes in E.P. depend on lesional localization; b) the increase in amplitude of the late components and of the post-discharge of the E.P. ("paroxystical" aspect) appear to be a characteristic common to all epilepsies, whatever the mechanism; c) the abnormal exaggeration of the E.P. during voluntary movement seems to be a dynamic element peculiar to movement epilepsy. The information given by E.P.'s in some well-defined cases of epilepsy suggest that it is possible to draw conclusions from tests of the capacity for sensory-motor control to enable functional therapy of some attacks.

Adolescent↗
PubMed1977

Mosaic 45,x/47,xy,+18.

A poorly developed female infant with buphthalmia, Turner phenotype, and mental retardation is described. Blood culture revealed a 45,X/47,XY,+18 chromosomal mosaicism; fibroblast culture showed only 45,X cells. The baby was dead at 11 months. Post mortem examination exhibited an ovarian agenesis and a calcified aortic stenosis.

Abnormalities, Multiple↗
PubMed1975

The diagnosis of mucopolysaccharidoses by electron microscopy of skin biopsies.

An ultrastructural examination was carried out on the skin of six children suffering from Mucopolysaccharidosis I (MPSI or Hurler's disease) and MPS II (Hunter's disease). Both intracellular mucopolysaccharides and lipids were observed. The dermal cells, i.e. fibroblasts, macrophages, were loaded with multiple vacuolar inclusions thought to be of lysosomal origin. They appeared either content-free or filled with granular, fuzzy and/or pseudomyelinic structures. Identical abnormalities were observed within the Schwann cells, smooth muscle cells and keratinocytes. Mast cells showed peculiar "worm-like" inclusions apart from their normal granulations. Since ultrastructure of a skin sample may provide as much data as brain, liver or kidney, cutaneous electron microscopy can be recommended to confirm a diagnosis of MPS.

Cell Nucleus↗