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Biomedical subjects

B Caille

Publications and source records attributed to B Caille.

At least 19 recordsLinked to original sources
PubMed1990

[Rendu Osler disease revealed by ruptured cerebral arterial aneurysm in an infant].

A 6 week-old boy whose mother and sister present with hereditary hemorrhagic telangiectasia (HHT) presented suddenly with listlessness, hypotonia, and acute anemia. Cerebrospinal fluid was grossly hemorrhagic. Brain CT scan was compatible with subarachnoid and intracerebral hemorrhage. Operative investigation diagnosed a ruptured aneurysm of one branch of the right middle cerebral artery. A large clot was removed from the right frontal lobe. The ruptured artery was clipped. Further cerebral and abdominal angiographies did not show other aneurysms. The infant died 18 days later, with bilateral subdural hematoma. The family history and review of the literature suggest that the rupture of a cerebral aneurysm in this infant may have been an early manifestation of HHT. Brain CT scan study seems mandatory in every infant born to a mother with HHT.

Cerebral Hemorrhage↗
PubMed1990

[r14 syndrome without major dysmorphism].

An 8-year-old boy, mentally retarded and epileptic since the age of six months, was found carrier of ring 14 chromosome. A dystrophy of the eye fundi was observed (whitish puncta of the macula); except for the "almond shaped eyes", there was no obvious dismorphism.

Abnormalities, Multiple↗
PubMed1989

[Neonatal pneumococcus laryngitis].

Report of a case of laryngitis beginning within the first 10 hours of life. The epiglottis was red, swollen, and covered by a membrane. Culture of laryngeal swabs isolated Streptococcus pneumoniae. Complete recovery was obtained with antibiotic therapy.

Anti-Bacterial Agents↗
PubMed1987

[A case of botulism in a 11-month-old infant].

We report a case of botulism in a 11 month-old infant. Hypotonia complicated by progressive bulbar paralysis revealed the disease. Botulism B toxin was present in serum on the 8th day of the disease. On the occasion of this case report the clinical, diagnostic, epidemiological and pathophysiologic aspects of infant botulism are reviewed. The relationship between sudden infant death and botulism is discussed.

Botulism↗
PubMed1986

[Multifocal tuberculosis in a 15-year-old child].

We report the case of a 15 year-old boy, presenting with juxta-articular swellings and lacunar skeletal lesions associated with prolonged fever and cachexia. Among the multiple bacteriological samplings, only the trans-osseous puncture of a tibial lacunar lesions, yielded Bacillus tuberculosis. With triple anti-tuberculous chemotherapy, fever and juxta-articular swellings disappeared. However, several articular ankyloses persist, which might need a surgical correction.

Adolescent↗
PubMed1985

[Familial forms of interauricular communication of the ostium secundum type].

The occurrence of several cases of ASD in the same family is rare. Familial forms of ASD are characterised by the high incidence of associated cardiac lesions in affected patients or in the family, by the frequency of atrioventricular block with prolongation of the PR interval and by the presence of a large defect in the interatrial septum. The condition is thought to be transmitted in an autosomal dominant manner. The authors report the case of a family in which 7 cases of ASD were found, 6 of which were repaired surgically. There were no associated cardiac or extracardiac malformations; AV conduction was normal in 4 of the 6 operated cases--the defects were all large. The study of the genealogical tree with examination of most members of the family suggests autosomal dominant transmission of the condition.

Adolescent↗
PubMed1984

[Ring chromosome 14. II. A case report of r(14) mosaicism. The r(14) phenotype].

Observation of a patient with r(14) mosaicism together along with 18 previously published observations define the syndrome as follows: mental deficiency, seizures, microcephaly (usually), and facial dysmorphism showing a narrow, elongated face, short palpebral fissures, a flat nasal bridge, and retrognathia. A retinal dystrophia which may be specific of the syndrome consists of a hyperpigmentation and, in three patients, yellow-white spots of the macula. The brain shows mild dilation of the lateral ventricles.

Abnormalities, Multiple↗
PubMed1982

[Pseudohypoaldosteronism: familial forms. Eight case-reports, with a review of the literature (author's transl)].

Pseudohypoaldosteronism (PHA) is an uncommon cause of the renal salt loosing syndrome in infancy. The authors describe eight cases in two different families. Hyperaldosteronism persists long after clinical recovery has occurred. Plasma hormone assay allows retrospective recognition of cases overlooked during infancy. This underlines the variability of disease expression among different members of the same family. The high family occurrence rate (over 50%), which is often underestimated, is demonstrated by the study of both families and by a review of published cases. Clinical and biochemical features of familial PHA are discussed. Inheritance is usually on an autosomal dominant basis. However, the small number of reported cases cannot allow any attempt to individualize subgroups of the disorder upon genetic grounds.

Adult↗
PubMed1975

[Neonatal hypotonias with congenital disproportion of various types of muscular fiber, especially type I fibers. Demonstration of the familial character of this new entity].

Two sisters presenting with benign congenital hypotonia are reported. In both cases the muscle biopsies demonstrated the same pathological pattern, consisting in an abnormal size disproportion between the two main cytoenzymological types of muscle fibers. Their father, exhibiting a slight and diffuse muscle weakness, showed a closely related histological aspect. These three cases bring the first evidence of a familial transmission of this new entity. Its relationship with the other types of "congenital myopathies" is discussed.

Adult↗