[Primary Sjögren syndrome in a child].

Unlabelled: Sjögren syndrome is uncommon in children and occurs most often in association with autoimmune diseases (secondary Sjögren syndrome). We describe the clinical and biological features of a 7-year-old girl with primary Sjögren syndrome revealed by recurrent parotiditis.

Case Report: A 7-year-old girl was referred for investigation of multiple episodes of parotid swelling since age 4 years, without systemic symptoms.

Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening.

Mitochondrial disease refers to a heterogeneous group of disorders resulting in defective cellular energy production due to dysfunction of the mitochondrial respiratory chain, which is responsible for the generation of most cellular energy. Because cardiac muscles are one of the high energy demanding tissues, mitochondrial cardiomyopathies is one of the most frequent mitochondria disorders. Mitochondrial cardiomyopathy has been associated with several point mutations of mtDNA in both genes encoded mitochondrial proteins and mitochondrial tRNA and rRNA.

Neonatal lupus erythematosus with congenital heart block in twins.

Background - Neonatal lupus erythematosus is an uncommon acquired autoimmune disease caused by transplacental passage of maternal antibodies SSA/Ro, SSB/La or U1 ribonucleoproteins. The most common clinical manifestations are skin rash, cardiac lesions, thrombocytopenia, anemia and hepatosplenomegaly. Complete congenital heart block is usually irreversible needing a pacemaker implantation in two-thirds of cases.

Ecthyma gangrenosum: A manifestation of community-acquired Pseudomonas aeruginosa septicemia in three infants.

Objectives: Pseudomonas aeruginosa sepsis usually carries a high mortality rate in immunocompromised children. Ecthyma gangrenosum is a known cutaneous manifestation due mainly to Pseudomonas infection with or without septicemia. We describe clinical, biological, and therapeutic data.

[Serratia marcescens osteomyelitis as the first manifestation of chronic granulomatous disease].

Chronic granulomatous disease is a rare, primary immunodeficiency disorder characterized by a defect in oxidative metabolism in phagocytes and recurrent bacterial and fungal infections. We report a case in a 2-month-old infant admitted with metacarpic osteomyelitis due to Serratia marcescens. Chronic granulomatous disease is rare but must be considered in cases of uncommon or atypical infection.