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It is clinically characterized by severe osteoporosis which is usually recognized and posteriorly diagnosed in early childhood. This usually leads to various complications, the primary one being recurrent bone fractures. [1] [2] Another very common symptom is total blindness, which usually manifests in two ways:
Senile osteoporosis has been recently recognized as a geriatric syndrome with a particular pathophysiology. There are different classification of osteoporosis: primary, in which bone loss is a result of aging and secondary, in which bone loss occurs from various clinical and lifestyle factors. [1]
The US National Osteoporosis Foundation recommends pharmacologic treatment for patients with hip or spine fracture thought to be related to osteoporosis, those with BMD 2.5 SD or more below the young normal mean (T-score -2.5 or below), and those with BMD between 1 and 2.5 SD below normal mean whose 10-year risk, using FRAX, for hip fracture is ...
Osteoporosis is rare in children and adolescents. When it occurs, it is usually secondary to some other condition, [1] e.g. osteogenesis imperfecta, rickets, eating disorders or arthritis. In some cases, there is no known cause and it is called idiopathic juvenile osteoporosis. Idiopathic juvenile osteoporosis usually goes away spontaneously. [2]
[2] [3] [4] If left untreated, people will have poorly defined secondary sexual characteristics, show signs of hypogonadism, almost invariably are infertile and are at increased risk of developing osteoporosis. [2] A range of other physical symptoms affecting the face, hands and skeletal system can also occur. [3]
Diagnosis is usually made at birth or in early childhood. The features associated with this condition include mild to moderate learning difficulties, short stature, unique facial features, small head and skeletal abnormalities including bony growths projecting from the surfaces of bones.
In the early stages, bone scintigraphy and MRI are the preferred diagnostic tools. [18] [19] X-ray images of avascular necrosis in the early stages usually appear normal. In later stages it appears relatively more radio-opaque due to the nearby living bone becoming resorbed secondary to reactive hyperemia. [2]
An early warning system (EWS), sometimes called a between-the-flags or track-and-trigger chart, is a clinical tool used in healthcare to anticipate patient deterioration by measuring the cumulative variation in observations, most often being patient vital signs and level of consciousness. [1]