Bilateral Neck Femur Fractures, Rickets And Severe Osteoporosis In Oculocerebrorenal Syndrome Of Lowe

摘要

The Lowe syndrome is constellation of eye, central nervous system and kidney involvement. We report about a child with bilateral neck femur, rickets and severe osteoporosis in Lowe syndrome. Introduction Occulocerebrorenal syndrome was first described by Charles Lowe in 1952 [1]. It is rare X-linked recessive disorder involving primarily kidneys, eyes and the nervous system. The non specific radiological features-the white matter abnormalities in MRI have been reported in Lowe syndrome [2]. We describe a bilateral neck femur fracture, severe osteoporosis and active rickets in Lowe syndrome. Case Report A five and half year old boy presented with failure to thrive and multiple deformities of his limbs. He was the second child of non-consanguineous parents born of an uncomplicated pregnancy at term. He was operated for congenital bilateral dense cataract at 3 years. The child had history of delayed developmental milestones and seizures. On examination, he had short stature, frontal bossing, prominent parietal prominence, hypotonia, corneal scarring, delayed eruption of all primary teeth, delayed deep tendon reflexes, severe mental retardation, pectus carinatum, rachitic rosary, Harrison sulcus, protuberant abdomen, wrist widening, as well as bowing of the both femur and tibia. Skeletal survey revealed bilateral neck femur fractures (figure 1), generalized osteoporosis, active rickets, delayed bone age (figure 2) and dorsolumber kyphosis (figure 3). There was no cervical spine instability was noted. Investigation showed normal calcium, hypophosphatamia, raised alkaline phosphate, low sodium and potassium, dilute urine, hyper caliciuria, phosphaturia, proteinuria, aminoaciduria. Blood gas analysis showed metabolic acidosis with respiratory compensation. Ultrasound abdomen was normal. The Occulocerebrorenal syndrome was diagnosed based on clinical and laboratory data.