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Biomedical subjects

F Goutieres

Publications and source records attributed to F Goutieres.

At least 19 recordsLinked to original sources
PubMed1994

Three new cases of the Schinzel-Giedion syndrome and review of the literature.

Three fetuses with normal chromosomes were found to have uni- or bilateral hydronephrosis during the third trimester of pregnancy. At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open. Genital abnormalities were present in 2 cases. Skeletal radiographs showed delayed bone maturation, broad and dense ribs, and a wide synchondrosis between the exoccipital and supraoccipital bones. The combination of such findings suggested the diagnosis of Schinzel-Giedion syndrome. Two patients died soon after birth, whereas the third one developed severe mental and motor retardation with seizures and spasticity, and died at 18 months. Schinzel-Giedion syndrome is rare and likely to be inherited as an autosomal recessive trait. So far, 13 well-documented cases have been reported allowing major and minor traits of the syndrome to be distinguished. Since no genetic marker is available, the prenatal diagnosis of Schinzel-Giedion syndrome relies on ultrasound examination, especially detection of renal abnormalities.

Abnormalities, Multiple↗
PubMed1992

Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome.

We report 2 sisters with a degenerative neurological disorder presenting clinically as a leukodystrophy. CT scan and MRI demonstrated small symmetrical foci of necrosis in the substentia nigra and in the basal ganglia typical of Leigh syndrome and diffuse cerebral white matter abnormalities. In these patients a deficiency in complex II of the respiratory chain was demonstrated in isolated mitochondria from muscle, as well as in fibroblasts and lymphocytes.

Brain↗
PubMed1992

Digito-reno-cerebral syndrome: confirmation of Eronen syndrome.

In 1985, Eronen et al. described a new autosomal recessive syndrome with absence of the distal phalanges of the toes and fingers, renal defect and cerebral anomalies (dilated ventricles or seizures). Two unrelated children affected by this syndrome enable us to accept its autonomy and delineate its nosology. Variability of the expression of the renal and cerebral manifestations is emphasized.

Abnormalities, Multiple↗
PubMed1990

[Visual electrophysiology in 101 children with encephalopathy].

The electrophysiological recordings (E.R.G. associated with C.V.E.P.) performed on 101 children suffering from encephalopathy of different origins demonstrate a trend towards retinal integrity for subjects with encephalopathy and no suspicion of acid-base disorders. However a functional macular deficiency is frequently observed in encephalopathy with suspicion of acid-base disorders (encephalopathy due to intracranial hypertension or cardio-vascular disorders or metabolic deficiencies with acid-base disturbance). In these cases, a common pathophysiological substratum with disturbance of the acute or chronic acid-base equilibrium has been assumed. Over a period of time, in fixed encephalopathy, the electrophysiological results reflect a real but slow maturation of the visual pathways.

Brain Diseases↗
PubMed1986

Subacute sclerosing panencephalitis: detection of measles virus RNA in appendix lymphoid tissue before clinical signs.

An appendix removed 15 days before onset of symptoms of subacute sclerosing panencephalitis was examined retrospectively for measles virus ribonucleic acid (RNA). Tissue sections hybridised in situ to a cloned measles virus probe of deoxyribonucleic acid specific for nucleocapsid protein showed that many cells of the lymphoid tissue contained measles virus RNA. In contrast, only a few infected lymphoid cells were detected in three out of six seropositive controls and none in three seronegative infants. A widespread chronic viral infection of the immune system, established after measles, may promote or even initiate nerve cell infection in subacute sclerosing panencephalitis.

Appendix↗
PubMed1984

Congenital hydrocephalus and eye abnormalities with severe developmental brain defects: Warburg's syndrome.

Five patients are reported with Warburg's syndrome, characterized by: (1) congenital hydrocephalus, (2) severe neonatal neurological dysfunction, (3) abnormalities of the anterior and posterior chambers of the eyes, (4) absence of known cause, and (5) severe developmental abnormalities of cortical gyration and architectonics. Fourteen similar published cases are reviewed. The syndrome can be diagnosed during life on the conjunction of the first four features listed. Evidence is adduced that this syndrome is a genetically determined condition with an autosomal recessive mode of inheritance and with a 25% recurrence risk for offspring of the parents of an affected infant.

Abnormalities, Multiple↗
PubMed1983

[Efficacy of scanography in convulsions and epilepsy in children].

CT scan examinations done in 356 children for epilepsy or occasional seizures showed normal results in over 50% of cases and abnormal results in 40%. The remaining 10% reflect the difficulties in ascertaining that a CT scan examination is normal, particularly regarding pericerebral spaces or ventricular size. The anomalies disclosed on CT scan are of little practical significance. Many of the abnormal results are not specific. An incidence on management was recorded in 5 cases. Other problems which may arise are the connexion between some CT scan findings and epilepsy, or the nature (tumoral or not) of abnormal images. In a few cases, diagnostic investigations or biopsies, which were negative in some instances, were carried out after demonstration of localized decreased density without signs of a space-occupying lesion. The differences in results between the various groups of epileptic patients underscore the necessity of a clinical selection of cases in which a CT scan is required.

Brain Diseases↗
PubMed1977

Acute measles encephalitis in children with immunosuppression.

Four cases of encephalitis occurring in children treated for lymphatic malignancies by immunosuppressive drugs are reported. Measles virus was isolated from the brain in one case and identified immunologically in another. Nucleocapsids identical to those seen in subacute sclerosing panencephalitis were demonstrated in three cases. Severe immunosuppression was evidenced in two patients by failure of rosette formation and low phytohemagglutinin tests. Pathologically, the inflammatory reaction was absent in one brain and moderate in two. Clinically, epilepsia partialis continua was a prominent feature in three patients. A history of measles or of contact was elicited in three cases, five weeks to three months before onset. All cases ran an acute fatal course. Measles virus can behave as an opportunistic invader of the central nervous system in children and the diagnosis of measles encephalitis should be considered in immunosuppressed patients.

Acute Disease↗
PubMed1976

[Hazards and complications of pneumoencephalography in children].

In a series of 1334 consecutive pneumoencephalographies in children 0-15 years, there were 2 deaths, 3 severe apneas and 1 pneumomediastinum. Respiratory insufficiency, due to contention of the patient with resulting impairment of the motion of thoracic muscles was an important mechanism and pneumoencephalography is contra-indicated in children with respiratory difficulties prior to the examination. In 90 consecutive patients submitted to pneymoencephalography CSF changes and fundus oculi abnormalities were studied prospectively. Aseptic meningitis of a mild degree is common following the examination, whereas significant meningeal haemorrhage is rare. Haemorrhages in the fundi were noted in 10% of the patients. The general tolerance of the examination was good.

Adolescent↗
PubMed1975

Absorption of phenobarbital after the intramuscular administration of single doses in infants.

Blood concentrations of phenobarbital, following an intramuscular administration of a single large dose of approximately 10 mg/kg, were studied in 39 infants. A rapid rise was obtained with a mean concentration of 9.30 mug/ml at 30 minutes, 12.76 mug/ml at 90 minutes, and a mean peak concentration of 13.28 mug/ml, which was reached in most cases within 2 hours of injection or less. Cerebrospinal fluid values in 13 patients averaged half the blood phenobarbital concentrations.

Humans↗
PubMed1975

[Clinical and genetic aspects of the early form of Steinert's dystrophia myotonica].

Observations relating to 18 cases of the neonatal form of myotonic dystrophy are described. These consisted of 9 cases of severe forms incompatible with survival, characterised by major respiratory disorders, hypotrophia and difficulty in swallowing, associated with a facial diplegia and pes equinus. The other 9 patients suffered from more moderate, not lethal forms. In addition to muscular troubles manifested by precocious hypotonia, the disease involved serious mental retardation. The absence of myotonia was constant in the very young infants. Anomalies in pregnancies resulting in the birth of children suffering from a neonatal form of myotonic dystrophy are analysed and their frequency is emphasized. From the genetic point of view, the elective transmission of myotonic dystrophy by the mothers was found in all the cases. The knowledge of neonatal forms must be taken into consideration for genetic counseling.

Female↗