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

Jejunal perforation caused by abdominal angiostrongyliasis Perfuração jejunal causada por angiostrongilíase abdominal

The authors describe a case of abdominal angiostrongyliasis in an adult patient presenting acute abdominal pain caused by jejunal perforation. The case was unusual, as this affliction habitually involves the terminal ileum, appendix, cecum or ascending colon. The disease is caused by the nematode Angiostrongylus costaricensis, whose definitive hosts are forest rodents while snails and slugs are its intermediate hosts. Infection in humans is accidental and occurs via the ingestion of snail or slug mucoid secretions found on vegetables, or by direct contact with the mucus. Abdominal angiostrongyliasis is clinically characterized by prolonged fever, anorexia, abdominal pain in the right-lower quadrant, and peripheral blood eosinophilia. Although usually of a benign nature, its course may evolve to more complicated forms such as intestinal obstruction or perforation likely to require a surgical approach. Currently, no efficient medication for the treatment of abdominal angiostrongyliasis is known to be available. In this study, the authors provide a review on the subject, considering its etiopathogeny, clinical picture, diagnosis and treatment.<br>Os autores descrevem caso de angiostrongilíase abdominal em doente adulto que se manifestou como abdômen agudo devido à perfuração de alça jejunal, evento raro, uma vez que esta afecção geralmente envolve o íleo terminal, apêndice, ceco ou cólon ascendente. A doença é causada pelo nematódeo Angiostrongylus costaricensis cujos hospedeiros definitivos são roedores silvestres e os hospedeiros intermediários são caracóis e caramujos. A infecção em humanos é acidental e ocorre pela ingestão de secreção mucóide destes invertebrados presentes em vegetais ou por contato direto com o muco. A angiostrongilíase abdominal é clinicamente caracterizada pela presença de febre prolongada, anorexia, dor no quadrante inferior direito do abdômen e eosinofilia periférica. Embora a doença seja de natureza benigna, seu curso pode evoluir para formas complicadas como a obstrução ou perfuração intestinais que necessitam de tratamento cirúrgico. Atualmente, não há tratamento medicamentoso eficaz para a angiostrongilíase abdominal. Neste estudo, os autores realizam uma revisão desta afecção em relação à sua etiopatogenia, quadro clínico diagnóstico e tratamento