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Biomedical subjects

P Guibaud

Publications and source records attributed to P Guibaud.

At least 109 records · Page 6Linked to original sources
PubMed1978

[Familial congenital muscular dystrophy caused by phosphofructokinase deficiency].

Two children, born to related parents, presented since birth a muscular defect rapidly complicated by painful joint stiffness. The oldest child died at 6 months of age, from respiratory complications. The second-14 month old- does not sit without support. The muscle fibres are of unequal calibre and numerous fibres have under-sarcolemmal PAS positive areas contain glycogen, as seen on electron microscopy. In the second patient, the biochemical analysis showed a moderate glycogen accumulation and muscular enzymatic studies demonstrated an isolated and major deficiency in phosphofructokinase activity. Activity was normal in red blood cells and in fibroblasts cultured in vitro. Hence, these cases should be distinguished from formerly reported cases of phosphofructokinase deficiency. This type of P.F.K. deficiency should be looked for in patients with severe congenital muscular dystrophy and early joint involvement.

Erythrocytes↗
PubMed1978

[7 cases of trisomy 2q34 leads to 2qter resulting from a familial t(2;8)(q34;23)].

Seven patients from two different families are trisomic 2q34 leads to 2qter due to segregation of a familial t(2;8)(q34;p23). The clinical features are characteristic: microcephaly, a narrow forehead with bossing and temporal retraction, hypertelorism, palpebral fissures slanted downwards, large irides, and a very concave margin of the lower eyelid. Mental retardation is severe with a mean IQ of 50.

Abnormalities, Multiple↗
PubMed1975

[A form of late propionic acidemia].

Report of 3 cases of propionic acidemia which concern one boy (O.M.) in whom a formed diagnosis of hyperglycemia with ketosis had been established, and two sisters (C.V. and K.V.) of another family. The activities of propionyl-CoA carboxylase in O.M. and C.V. fibroblasts were reduced to 4.5 and 2.5% of control. After two severe metabolic crisis, at 6 and 44 months of age, O.M. has at the present time (11yrs) a normal psychical development, and very few neurological disorders. Propionic acidemia was manifested only at 34 months of age in C.V. with a very severe crisis of acidoketosis with hypoglycemia, leading to neurological sequellae which are still important at 56 months of age. The disease was entirely latent in K.V. at 26 months, when the diagnosis was proven; it remains latent at 40 months. These case reports represent a special form of propionic acidemia with late clinical expression. Biological evolution does not seem to be affected by prolonged administration of biotine.

Acidosis↗