The authors report six cases from six different families of lethal brittle bone disease with narrow diaphyses and thin ribs. This phenotype should be dissociated from the lethal forms of osteogenesis imperfecta and encompass two diseases. In the first, autosomal recessive, the metaphyses of long bones are narrow, with a membranous ossification, without cartilagenous residue. Cultured fibroblasts demonstrate a marked increase in type V collagen. In the second type, the metaphyses are enlarged and the babies have a facial dysmorphism with hypoplasia of the eyebrows, frontal bossing and a small mouth.

Bone Diseases, Developmental↗

PubMedDate not supplied

[Continuous nocturnal intragastric feeding in glycogenosis type I and III].

Three patients with type I glycogen storage disease (GT I) and four patients with type III glycogen storage disease (GT III) have been treated with nocturnal intragastric feeding and frequent daytime meals for 2 to 8.5 years. In all of them, hypoglycemia was well controlled. Patients with GT. I showed a normal growth rate and an improvement of serum lactate, triglycerides, cholesterol and urate. Patients with GT. III showed no consistent changes in serum triglycerides cholesterol and transaminases and no improvement of myocardiopathy.

Blood Glucose↗

PubMedDate not supplied

[Hepatic glycogenoses. Introduction].

Liver glycogenosis (GSD) are hereditary in diseases caused by deficiencies of the three major enzymatic systems involved degradation of glycogen: glucose-6-phosphatase (GSD VI). The aims of this paper are, in a first part, to summarize the biological and physiological aspects of these disorders in order to propose an update diagnostic process, and, in a second part, to point out the clinical features and the possible evolution of such patients becoming adults, according to the French experience.

Glycogen Storage Disease↗

PubMedDate not supplied

[Clinical aspects of hepatic glycogenoses].

Hepatic glycogenosis, heterogeneous in their type, appear in children as an hepatomegaly discovered during manifestations of hypoglycemia and/or growth disorders, sometimes in the course of a systematic physical examination. A usually late puberty determines a transient aggravation of the height insufficiency. Persistence of a marked hepatomegaly and the development of lever adenomas are characteristic of type I glycogenosis. There, the metabolic imbalance (hyperlipoproteinemia and hyperuricemia, especially), lead to severe vascular and renal complications. Haematologic and sometimes infectious disorders may be added. In type III glycogenosis, the danger depends less on the liver fibrosis, usually minimal, than on the frequently associated cardio-vascular involvement. Type VI glycogenosis, usually have a favorable course. Current therapeutic progresses and a better care should result in a marked improvement of the evolution in type I and probably type III.

Glycogen Storage Disease↗

PubMedDate not supplied

[Malignant arterial hypertension and Ito's hypomelanosis].

Hypomelanosis of Ito is a rare neurocutaneous syndrome and several abnormalities are often associated. Malignant hypertension and polycythemia are very unusual; their occurrence in a 12 year-old girl is not related to any classical etiology and their place in Ito disease is discussed.

Child, Preschool↗

PubMedDate not supplied