Osteopetrosis

Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence of 1 in 20,000 births. Osteopetrotic conditions vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications such as bone marrow failure (e.g. classic or "malignant" ARO), to the incidental finding of osteopetrosis on radiographs (e.g. osteopoikilosis). Classic ARO is characterised by fractures, short stature, compressive neuropathies, hypocalcaemia with attendant tetanic seizures, and life-threatening pancytopaenia. The presence of primary neurodegeneration, mental retardation, skin and immune system involvement, or renal tubular acidosis may point to rarer osteopetrosis variants, whereas onset of primarily skeletal manifestations such as fractures and osteomyelitis in late childhood or adolescence is typical of ADO. Osteopetrosis is caused by failure of osteoclast development or function and mutations in at least 10 genes have been identified as causative in humans, accounting for 70% of all cases. These conditions can be inherited as autosomal recessive, dominant or X-linked traits with the most severe forms being autosomal recessive. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable, and paves the way to understanding natural history, specific treatment where available, counselling regarding recurrence risks, and prenatal diagnosis in severe forms. Treatment of osteopetrotic conditions is largely symptomatic, although haematopoietic stem cell transplantation is employed for the most severe forms associated with bone marrow failure and currently offers the best chance of longer-term survival in this group. The severe infantile forms of osteopetrosis are associated with diminished life expectancy, with most untreated children dying in the first decade as a complication of bone marrow suppression. Life expectancy in the adult onset forms is normal. It is anticipated that further understanding of the molecular pathogenesis of these conditions will reveal new targets for pharmacotherapy

Proposta de documentação fotográfica em motricidade oral Oral motricity photographic registration proposal

OBJETIVO: propor um protocolo específico para documentação fotográfica do paciente na área de Motricidade Oral. MÉTODO: foi utilizada uma câmera digital fixada em um tripé e foram realizadas fotografias padronizadas corporais e de face. Realizou-se ainda, a teleradiografia lateral contrastada com bário sobre a língua. RESULTADOS: as fotografias facilitaram a visualização dos nossos resultados terapêuticos. CONCLUSÃO: concluiu-se que a documentação proposta auxilia no diagnóstico e no estudo do prognóstico do paciente, bem como, pode ser utilizado como material auxiliar nas orientações aos responsáveis e ao paciente.<br>PURPOSE: to propose a specific protocol for photographic register of Oral Motricity patients. METHODS: a digital camera mounted on a tripod was used. Standardized photos of body and face were taken. A tele-radiography modified by using contrast with barium which was spread over the patient's tongue was taken. RESULT: the pictures made easy the visualization of our therapeutic results. CONCLUSION: so far it is possible to conclude that the proposed documentation helps in the diagnosis process and prognosis analysis, and it may be used as supplementary material for guiding patients and parents on the best treatment to follow