Endocrine Abstracts

Limb-girdle muscular dystrophies are a heterogeneous group of disorders regarding both their phenotypes and their underlying genetic causes. One of these defects is limb-girdle muscular dystrophy type 2J (LGMD2J), which has an unknown prevalence. Our aim is to describe clinical features an evolution of a novel case of this rare condition. Our patient is female, aged 29 from a non-consanguine family bearing features of limb-girdle muscular dystrophy. The first signs of this aff...

Krabbe disease, also known as globoid cell leukodystrophy, is an autonomic recessive genetic disorder caused by GALC mutations. GALC gene codes for galactosylceramidase, which is a lysosomal enzyme. This disorder can occur during early childhood, between the ages of 1 and 8 years old (later onset form) or during adulthood; its prevalence is estimated at 1/100 000. Nevertheless, in most cases, this disorder occurs during childhood. With this case report, our a...

Sulfite oxidase deficiency encephalopathy is a rare genetic disease, secondary to the mutation of the SUOX gene, which codes for the enzyme sulfite oxidase that catalyzes the oxidation of sulfite to sulfate, an essential process for the catabolism of sulfur amino acids. This rare disease is characterized clinically by seizures, progressive encephalopathy and lens dislocation. The objectives of this report are to describe the clinical, paraclinical and evolutionary characterist...

Trisomy 21 or Down syndrome is the most common autosomal aneuploidy and the leading genetic cause of intellectual disability worldwide. It is a genetic disease, resulting from the presence of a supernumerary chromosome for the 21st chromosomal pair. It is responsible for a phenotype associating a dysmorphic syndrome, malformations (cardiac, digestive, urinary\..), psychomotor retardation, and can be accompanied by other pathologies and complications (epilepsy, leukemia\..). We...

Trisomy 18, or Edwards syndrome, is a chromosomal disorder, due to the presence of a supernumerary chromosome 18. Worldwide, it is estimated to have a prevalence of 1/6000 live births, of which the most affected are female. Infants with trisomy 18 have a high mortality rate, secondary to the lethal malformations associated with this syndrome. The objective of this study is to describe the clinical and cytogenetic characteristics of these patients and to demonstrate the value o...