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Biomedical subjects

P Beauvais

Publications and source records attributed to P Beauvais.

At least 55 records · Page 3Linked to original sources
PubMed1984

[Gyrate atrophy of the choroid and retina in children. Apropos of 2 cases].

The authors report two familial cases of algerian children with a hyperornithinaemia and a gyrate atrophy. Blood ornithine was 10 to 20 above the normal, lysine and glutamic acid were slightly decreased. Urinary ornithine levels were very high. The enzymatic activity of the ornithine keto-acid transaminase was not detectable in the patients skin fibroblasts. It was more than half the normal value in the children's mother. Owing to a better knowledge of the biochemical abnormalities a poor protein, poor arginine and more recently proline added diet has been recommended in order to alter the development of ocular lesions. Unfortunately the authors did not have the opportunity of following the children long enough to assess the result of this treatment.

Algeria↗
PubMed1983

[Acute pyogenic sacroiliac arthritis in children].

Three children with pyogenic arthritis of the sacroiliac joints are presented. A study of the literature shows that this condition, although not well known, is not uncommon in childhood. Clinical features and particularly physical examination of the sacroiliac joints are described. They should lead to suspect sacroiliac disease. Radioisotope bone scanning is of great help as it substantially reduces the delay in correct diagnosis. Antibiotic treatment is usually sufficient for adequate management of pyogenic sacroiliitis. The intravenous route for antibiotic administration is not mandatory.

Acute Disease↗
PubMed1983

[Parathyroid adenoma in children. A new case].

The case reported concerns a 13 year-old girl presenting with a palpable parathyroid adenoma. Impairment of general condition, weight loss and abdominal pain were the presenting symptoms. Surgical excision of the adenoma led to recovery. The main clinical and laboratory signs of tumoral hyperparathyroidism are reviewed, the misleading character of the presenting symptoms being emphasized.

Adenoma↗
PubMed1982

[Sickle cell anemia and functional asplenia (author's transl)].

On the occasion of 34 spleen scintigrams performed in children with sickle cell anemia, the frequency and precocity of the "functional asplenia" is emphasized and its relationship with the infectious history of such children is discussed. The anti-bacterial role of the spleen and the responsibility, at least partial, or asplenia in the susceptibility of patients with sickle cell anemia to infections, especially pneumococcal ones, are reviewed. The pathophysiologic mechanism of functional asplenia is then discussed. The author concludes that asplenia has no predictive value in selecting children "at risk" for infection and stresses the necessity of a systematic prevention by penicillin therapy and antipneumococcal vaccination in such patients before 4 years of age.

Adolescent↗
PubMed1979

[Clinical and biological forms of cytochrome b5 reductase deficiency].

Twenty-four personal cases of recessive congenital methemoglobinemia (RCM) due to cytochrome b5 reductase deficiency are analysed. They can be divided into two categories: 1) RCM type I, in which cyanosis is the single clinical symptom; 2) RCM type II in which cyanosis is associated with severe mental retardation and bilateral athetosis. The enzyme deficiency is restricted to the red cell soluble cytochrome b5 reductase in RCM type I, whereas in the type II form the enzyme defect is generalized to all tissues, involving both the soluble and the microsomal forms of cytochrome b5 reductase. Different mutations occurring at the same locus might account for this heterogeneity. However the mechanism of brain damage in case of generalized deficiency of cytochrome b5 reductase is still unknown.

Brain Diseases↗
PubMed1978

[Leri's melorheostosis. Apropos of 3 cases in children].

Three pediatric cases of Leri's melorheostosis are reported. Growth disorders and deformities of the limbs are often the first signs in children. X ray shows areas of very opaque condensation of the long bones parallel to the main axis of the bones parallel to the main axis of the bone, and on the epiphyses, small dense and irregular islets. The course is benign but there may be orthopedic complications.

Adolescent↗
PubMed1978

[A new case of basal cell naevomatosis (author's transl)].

The authors, in the light of a new case of naevomatosis, review the description of the disease, emphasising its symptoms and signs, and inheritance, drawing attention to the need for surveillance of such patients in view of the risk of malignant change in the naevi. The other signs of the disease must be sought following the discovery of multiple epidermal cysts of the maxilla and mandible.

Adult↗
PubMed1977

Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers.

A familial t(X;2) (p223;q323) is responsible for partial trisomy 2q in the proposita, a 3-year-old girl with severe mental retardation and hypotrophia. It is present in the balanced state in the mother, two daughters, and one son. X-replication was studied after BUDR incroporation and acridine orange staining. The reproductive impairment of balanced X/autosome translocations is discussed.

Child, Preschool↗
PubMed1977

[Dermo-neuro-hypsarrhythmia. Association of a congenital dermatosis and hypsarthymia. 9 cases (author's transl)].

These 9 cases confirm that tuberose sclerosis, von Recklinghausen's neurofibromatosis, incontinentia pigmenti, linear warty sebaceous naevus and alopecic naevus resulting in a woolly naevus of the scalp may be complicated by flexion spasms with hypsarhythmia. Early diagnosis of hypsarhythmia makes possible specific treatment with ACTH or hydrocortisone.

Abnormalities, Multiple↗
PubMed1976

[Acute intermittent porphyria at 4 months of age].

Acute intermittent porphyria was diagnosed in a child who presented with an acute abdomen and neurological signs of the age of four months. The diagnosis was confirmed by the absence of uroporphyrinogen synthetase in the erythrocytes. The rarity of the disorder at this age is emphasised.

Abdomen, Acute↗