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)

Malignant infantile osteopetrosis.

Osteopetrosis, a rare congenital genetic disease characterized by increased bone density due to impaired bone resorption by osteoclasts. It is classified into three forms: Infantile malignant autosomal recessive (AR) osteopetrosis, intermediate (AR) osteopetrosis and autosomal dominant (AD) osteopetrosis. Incidence of infantile malignant AR is 1/2,00,000 and if untreated has a fatal outcome. The condition is commonly diagnosed in infancy with symptoms of significant hematologic abnormalities with bone marrow failure, hepatosplenomegaly, macrocephaly with frontal bossing and bone fractures. Because of rarity of this type of malignant infantile form of osteopretrosis, we like to report this case of malignant infantile osteopetrosis who presented with bronchopneumonia, anemia with melaena at 2 months 15 days of age.