PubMed HealthSearch

Biomedical subjects

M Berthier

Publications and source records attributed to M Berthier.

At least 19 recordsLinked to original sources

[The Harlequin Baby syndrome. A new case].

The Harlequin baby syndrome is a rare but lethal ichtyosis. We report a new case of a primiparous woman of 28 years of age who had a pregnancy that progressed normally with the delivery of a child of 2,450 grams whose Apgar was 9 at one minute and 10 at three minutes, but who died after living just 24 hours. The reason for this work is to try to analyse the features that are known about possible treatment and antenatal diagnosis of the Harlequin baby syndrome. It has been suggested that vitamin A supplements should be given for several years because the skin state may be improved. On the other hand morbidity is likely to remain serious particularly from the point of view of growth and psychomotor development. Antenatal diagnosis using skin biopsy can be obtained after 23 weeks of amenorrhoea using a fetoscope; it shows the 25% of cases recur. At present the only treatment if a recurrence does occur is to terminate the pregnancy.

Abortion, Therapeutic

[Human parvovirus B19 infection during pregnancy. 2 cases].

We report two cases of non immunologic hydrops fetalis associated with intra-uterine human parvovirus B19 (PV B19) infection. The outcome was stillbirth in both cases. Infection by PV B19 was suspected by the presence of intranuclear inclusions in fetal erythroblasts. It was confirmed by the presence of specific immunoglobulins M (IgM) against PV B19 in maternal sera. Intra-uterine infection with human PV B19 is known since 1984; this virus may cause non immunologic hydrops fetalis and stillbirth; teratogenic effects have also been suggested. Epidemiological studies, published in 1988 and 1990 have evaluated the risk of PV B19 fetal related death at 9% and no association was found between infection and congenital anomalies. Subsequent management of infected pregnancies is studied. We emphasize the interest of pathological examination of hydropic stillbirth for this diagnosis.

Adult

[Materno-fetal infection by Chlamydia psittaci transmitted by the goat: a new zoonosis?].

A case report is given of spontaneous abortion at 32 weeks brought about by Chlamydia psittaci following contact with a herd of goats. Severe symptoms were observed post-natally in this woman. Nine cases of materno-foetal infection with this pathogen are known, however, the source of infection is usually ewes suffering abortive chlamydiosis. Goats may also be infected, but caprine origin for the disease in pregnant women has not been reported previously.

Abortion, Spontaneous

Acute CNS infection by Trypanosoma cruzi (Chagas' disease) in immunosuppressed patients.

Acute CNS involvement by Trypanosoma cruzi is uncommon. We report 2 immunosuppressed patients, 1 adult who developed an acute meningoencephalitis, and 1 child who presented with the tumor-like form of the disease. Both patients acquired the disease through blood transfusion. Blood donors migrating from endemic areas can transmit the disease in nonendemic countries if they are not routinely screened for antibodies to T cruzi.

Acute Disease

[Heel involvement in rheumatoid polyarthritis].

Calcaneus involvement during the course of RA is poorly known. A clinical and radiological study of 408 consecutive rheumatoid feet are then reported. If talalgia was seldomly noted (3.7 p. cent), plantar calcaneitis was found in 29.7 p. cent as plantar spur. Similarly, posterior exostosis was displayed in 30.5 p. cent of patients. These radiological abnormalities are increased in RA but appeared more as a consequence of the statical modification of the foot secondary to RA process than as a direct involvement. Logical orthopedic therapeutics are then proposed.

Adult

Anterior callosal haemorrhage. A partial interhemispheric disconnection syndrome.

The interhemispheric disconnection syndrome secondary to a callosal haemorrhage is exceedingly uncommon. In the present study, 3 patients with haemorrhages restricted to the corpus callosum are presented. All 3 developed a partial anterior interhemispheric disconnection syndrome: unilateral tactile anomia, unilateral agraphia, unilateral apraxia, difficulty in copying drawings, dyscalculia as well as abnormalities of somaesthetic transfer and the 'alien hand' sign. The study of these cases allowed a close examination of the association between deficits in the transfer of specific neuropsychological information and the precise topography of callosal damage. Variability in the lateralization of cognitive functions, and possible mechanisms underlying the production of callosal haemorrhages after the rupture of saccular aneurysms are also discussed.

Adult

[Congenital pseudohypoaldosteronism: apropos of 6 cases].

Pseudohypoaldosteronism is a congenital disorder, with an as yet unclear pathophysiology, mode of inheritance and frequency. We have recently diagnosed 6 cases in a relatively short period of time, which suggests that the frequency of the disease may be underestimated. This may be due to a high variability in the clinical expression and to the existence of asymptomatic forms. Autosomal dominant and autosomal recessive modes of inheritance have been reported which probably correspond to different underlying mechanisms.

Chromosome Aberrations

Asymbolia for pain: a sensory-limbic disconnection syndrome.

We describe the behavioral and neuroanatomical features of asymbolia for pain occurring in 6 patients following unilateral hemispheric damage secondary to ischemic lesions in 5 and traumatic hematoma in 1. In the absence of primary sensory deficits, these 6 patients showed a lack of withdrawal and absent or inadequate emotional responses to painful stimuli applied over the entire body, as well as to threatening gestures. Five patients also failed to react to verbal menaces. Patients appeared unconcerned about the defect and seemed unable to learn appropriate escape or protective responses. Common associated abnormalities were rapidly resolving hemiparesis, cortical-type sensory loss, unilateral neglect, and body-schema disorders. Neuroradiological examination disclosed left hemispheric lesions in 4 patients and right hemispheric involvement in 2. Although lesion extension differed, the insular cortex was invariably damaged in all 6 patients. These findings suggest that insular damage may play a critical role in the development of the syndrome by interrupting connections between sensory cortices and the limbic system.

Adult

Bilateral opercular syndrome and crossed aphemia due to a right insular lesion: a clinicopathological study.

A right-handed male patient suddenly noted lower bilateral facial and lingual palsy, and inability to masticate and swallow, but with preserved automatic functions. He was mute, communicating only through writing, but verbal comprehension was normal (aphemia). On anatomopathological examination, an ischemic infarction of the entire right insula, with mild extension to the fronto-temporoparietal operculum was observed. The left hemisphere was normal. The clinical findings suggest a bilateral opercular syndrome due to a right hemisphere lesion and a crossed aphemia.

Cerebral Cortex

Ischemic infarction in 25 children with tuberculous meningitis.

Twenty-five cases (38%) of ischemic infarction occurred among 65 cases of tuberculous meningitis in patients less than 14 years of age. The male:female ratio was 1.3:1. The most frequent clinical findings were meningeal signs, fever, alteration of consciousness, cranial nerve involvement, seizures, and focal neurologic deficit. Twenty-three patients had anterior circulation infarcts, and two more had infarcts in the vertebrobasilar territories. Distribution of infarcts in the anterior circulation was shown by computed tomography in the territories of the following arteries: lenticulostriate, 10 cases unilateral and 6 bilateral; middle cerebral, 3 cases; internal carotid, 1 case; multiple areas, 3 cases. Of the 25 ischemic infarction cases, 23 (92%) had hydrocephalus, 19 (76%) basal exudates, and 2 (8%) tuberculomas. Outcome was poor since no patient with infarction recovered completely. Six died and bilateral subcortical infarcts led to a considerably higher mortality than unilateral ones, whether cortical or subcortical.

Brain Ischemia

[Serum levels of IgG subclasses in the normal child. Evaluation by an immunoenzymatic method using monoclonal antibodies].

Serum IgG subclass levels were measured by an immunoenzymatic assay with monoclonal antibodies in 225 normal children aged 1 to 17 years. Adult concentrations of IgG1 and IgG3 were reached early (2 to 3 years of age), with mean IgG1 level slightly higher in children than in adults, whereas IgG2 and IgG4 showed a slow increase. Mean IgG2 levels in children aged 13 to 17 were still significantly lower than in adults. The distribution of IgG4 levels in every age group was very heterogeneous, with a fair incidence of subthreshold concentrations especially before 5 years of age. These data must be taken into account when defining IgG subclass deficiencies in children.

Adolescent