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Biomedical subjects

M Berthier

Publications and source records attributed to M Berthier.

At least 73 records · Page 4Linked to original sources
PubMed1993

Brachymorphism-onychodysplasia-dysphalangism syndrome.

Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointed chin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub)normal intelligence. Radiological findings include hypo/aplasia or fusion of the distal phalanges of the fifth finger and toe, brachymesophalangism V, and nail dysplasia or aplasia. One child had cystic adenomatoid disease of the lung. The pattern of anomalies presented by these children closely resembles a syndrome incompletely delineated in 1971 by Senior in six children, which has often been considered to be a mild form of Coffin-Siris syndrome. We suggest that this is an independent entity (BOD syndrome). The aetiology is still unknown. Differential diagnosis and nosological difficulties are discussed.

Abnormalities, Multiple↗
PubMed1993

X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.

X linked hereditary spastic paraplegia is a rare condition that has been divided into two forms (the pure spastic form and the complicated form) as a function of clinical course and severity. A gene for pure hereditary spastic paraplegia (SPG2) has been mapped to the proximal long arm of the X chromosome (Xq21) by linkage to the DXS17 locus, while a gene for a complicated form of the disease has been mapped to the distal long arm by linkage to the DXS52 locus (Xq28). Here we report on the mapping of a gene for complicated hereditary spastic paraplegia to the Xq21 region by linkage to the probe S9 at the DXS17 locus (Z = 5 at theta = 0.04) in a three generation pedigree. Multipoint linkage analysis supports the distal location of the disease gene with respect to the DXYS1-DXS17 block (cen-DXYS1-DXS3-DXS17-SPG2-tel). The observation of a complicated form of spastic paraplegia mapping to Xq21 raises the difficult issue of variable phenotypic expression, allelic heterogeneity, or even close proximity of two genes for hereditary spastic paraplegia in this region. However, since our study provides clinical evidence for intrafamilial heterogeneity in complicated X linked spastic paraplegia, the present data support the hypothesis of variable clinical expression of a single gene at the SPG2 locus, as previously suggested for SPG1. Finally, we report here what we believe to be the first evidence of clinical expression in heterozygous carriers, a feature that is relevant to genetic counselling in at risk females.

Adolescent↗
PubMed1993

Paroxysmal alien hand syndrome.

Four patients are described who presented with a paroxysmal form of the alien hand syndrome. Two patients with damage to one frontomedial cortex had brief episodes of abnormal motor behaviour of the contralateral arm that featured groping, grasping, and apparently purposeful but perseverative movements, which both patients interpreted as alien or foreign. The other two patients, with posterior parietal damage, reported a paroxysmal feeling of unawareness of the location of the contralateral arm, lack of recognition of the arm as their own, purposeless movements, and personification of the arm. These cases represent a new form of the alien hand syndrome manifested by brief, paroxysmal episodes, which may be due to ictal mechanisms.

Adult↗
PubMed1993

[Accidental bleach ingestion in children: results of a survey in 11 anti-poison centres. Proposals for management].

Accidental bleach ingestion is frequent in children but there is no agreement on its management. The results of a survey among 11 French poison centres about their recommendations in this intoxication are reported. Most of the centres adapt their guidelines according to the quantity and the concentration of the ingested bleach. In case of diluted bleach, no centre recommends an hospitalization when the quantity is smaller than 100 ml, whereas four of the 11 centres recommend it when the quantity is greater than 100 ml. In case of concentrate bleach ingestion nine of the 11 centres recommend an hospitalization whatever the amount, eight of them performing an emergency upper gastro intestinal (GI) endoscopy if clinical signs are present. In case of large ingestion of concentrate bleach ten centres recommend the hospitalization, eight perform an upper GI endoscopy between 6 and 8 hours post ingestion according to clinical signs, and two perform a systematic emergency upper GI endoscopy. Tablets and new bleach are considered as concentrate bleach. From these informations and a review of the literature, the authors emphasize the importance of the clinical signs as criteria for prediction of GI lesions regardless of the quantity or the concentration of ingested bleach.

Endoscopy, Digestive System↗
PubMed1992

[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↗
PubMed1991

[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↗
PubMed1991

[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↗
PubMed1990

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↗
PubMed1990

[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↗
PubMed1989

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↗
PubMed1989

[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↗
PubMed1988

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↗