Osteopetrosis con afectación de cuatro nervios craneales / Osteopetrosis with damage of four cranial nerves

Introducción: la osteopetrosis se caracteriza por una insuficiente resorción ósea, como consecuencia de un trastorno de la actividad de los osteoclastos, y provoca aumento de la densidad ósea, es decir, un hueso altamente calcificado, pero muy frágil; hay fracaso del potencial de la médula ósea, desencadenando la hematopoyesis secundaria, con manifestaciones de visceromegalia y pancitopenia. El engrosamiento de los huesos provoca estrechamiento de los forámenes del cráneo, por donde emergen los nervios craneales, se comprimen y provoca manifestaciones clínicas secundariamente. Presentación del caso: paciente femenina que a los 3 años de edad manifestó nistagmus horizontal, paresia de nervio motor ocular externo derecho, pérdida de respuesta al estímulo auditivo bilateral, parálisis facial periférica izquierda y atrofia bilateral del nervio óptico; radiológicamente mostró aumento de la densidad ósea, con importante engrosamiento de la base de cráneo y huesos largos. Conclusiones: el diagnóstico de la osteopetrosis es sencillo y depende principalmente de los estudios radiológicos, pero pasa inadvertido por su baja frecuencia y falta de sospecha clínica. El diagnóstico temprano del compromiso de múltiples nervios craneales, la atención multidisciplinaria y su tratamiento oportuno, contribuye a su mejor evolución(AU)

Introduction: osteopetrosis is characterized by insufficient bone resorption as a consequence of a disorder in the osteoclast activity and brings about increased bone density, that is, a highly calcified bone but very fragile. There is failed potential of the bone marrow, thus unleashing secondary hematopoiesis with visceromegalia and pancitopenia manifestations. The bone thickening provokes narrowing in cranium foramens where the cranial nerves pass, they compressed and cause secondary clinical manifestations. Case report: a female patient aged 3 years showed horizontal nistagmus, paresia in the right external ocular motor nerve, loss of response to bilateral hearing stimulus, peripheral facial palsy and bilateral atrophy of the optical nerve. The radiological tests showed increased bone density with significant thickening of the skull base and long bones. Conclusions: the diagnosis of osteopetrosis is simple and mainly depends on the radiological studies, but it is unnoticed because of its low frequency and the inexistent clinical suspicion. The early diagnosis of the damage of several cranial nerves, the multidisciplinary care and timely treatment may contribute to better evolution(AU)

Pulmonary alveolar microlithiasis and osteopetrosis

Pulmonary alveolar microlithiasis is a rare condition caused by deposition in the alveoli of the lungs by calcific consolidation called calcospherites. Its etiology and pathogenesis are obscure. Osteopetrosis is a heterogeneous group of inheritable conditions with a defect in bone resorption by osteoclasts. We report a case of pulmonary alveolar microlithiasis associated with osteopetrosis, which was diagnosed incidentally by bone high density and generalized osteosclerosis on chest x-ray. Association of these two diseases has not been reported before

Osteopetrosis: a rare disease with rare presentations

At least eight types of osteopetrosis have been described in humans. The primary underlying mechanism involved in all forms is the failure of normal osteoclastic bone resorption. Osteopetrosis tarda, the benign adult form, is inherited as an autosomal dominant trait. Patients typically are asymptomatic and have good long-term survival rates because bone marrow failure rarely occurs. A more common and malignant form, osteopetrosis congenita, presents in infancy and results in bone marrow failure caused by complete replacement of the marrow spaces with osteoclasts. Other forms are rare and have variable manifestations. In this communication we report 2 cases on possibly a rare form of osteopetrosis, the intermediate form

Evaluation of some biochemical and radiological changes in bone metabolism during corticosteroid therapy

Osteoporosis is considered as a major outcome of corticosteroid administration. The evaluation of the degree of osteoporosis in patients on steroid therapy was examined by many studies. This work aimed at the assessment of bone turnover markers, as well as, quantitative computed tomography as measures for detection of osteoporosis in patients receiving corticosteroids. This has been achieved through the biochemical detection of bone turnover markers [total alkaline phosphatase [SAP], osteocalcin [OC], urinary excretion of hydroxyproline/creatinine [OHPr/Cr]] and QCT scanning of L[2]-L[4] Vertebrae. Our results demonstrated that 60% of patients on steroids had complaints related to osteoporosis. Concerning the biochemical parameters of bone turnover SAP tended to be higher in patients than in control. Also, OC is significantly reduced [P