[Recessive osteopetrosis: new mutation]

Autosomal Recessive osteopetrosis [ARO] is a severe bone disease, whose cellular defect is consisting in impaired osteoclast bone resorption, resulting in generalized osteosclerosis and obliteration of marrow. The molecular defect is heterogeneous. 50 per cent of ARO patients show an abnormality in the TCIR1 gene coding for the a3 subunit of vacuolar proton pump that plays a fundamemtal role in acidifying the osteoclast-bone interface. We report a new case with mutation in the TCIRG1 gene. The patient, a 4 months old male infant, presented with exophthalmia, macrocephaly, hepatosplenomegaly, a very severe bone sclerosis,anemia, thrombocytopenia, optic atrophy, with fatal outcome at second year. He has the mutation G11049T in homozygous state in the TCIRG1 gene, this mutation is in heterozygous state in the parents. Prenatal diagnosis was carried out in the mother by amniocentesis performed at 16 weeks of second gestation. The fetal DMA analysis showed that same mutation were present in heterozygous state. A healthy baby with no clinical, radiological or abnormalities was delivered

[Fibrodysplasia ossificans progressiva. about one case]

Myositis ossificans progressiva is a rare autosomal dominant progressive disease of connective tissue. It consists on a heterotopic osteogenesis frequently associated to characteristic congenital malformations. We report a case of a 12-year-old girl which presented a heterotopic bone formation leading gradually to ankylosis. The diagnosis was suggested when we have discovered bone bridges between the rib cage and the superior limbs. Congenital malformations, most commonly of big toes and thumbs, are important criteria to draw on the diagnosis earlier and to avoid unnecessary biopsy or resection which may trigger off a flare of the disease. Therapeutic measures are essentially preventive and the prognosis is poor