A 25-year-old female patient came with complaints of anemia and seventh and eighth nerve palsy. As a pa of evaluation, X-ray of the skull and spine revealed the following abnormalities:- What is the Diagnosis based on the above findings?
Clinical findings of cranial nerve palsies with sclerotic skull base. Aplastic anemia due to inadequate resorption of bone marrow. Skull spine showing endobone (bone within bone sign) or sandwich sign seen in OSTEOPETROSIS. Osteopetrosis refers to a group of disorders caused by severe impairment of osteoclast-mediated bone resorption. Also called: - Marble bone disease, which captures the solid x-ray appearance of the involved skeleton Albers-Schonberg disease, which refers to the milder, adult form of osteopetrosis also known as autosomal dominant osteopetrosis type II. Generalized symmetric increases in bone mass with thickening of both coical and trabecular bone. Diaphyses and metaphyses are broadened Alternating sclerotic and lucent bands may be seen in the iliac crests, at the ends of long bones, and in veebral bodies The cranium is thickened, paicularly at the base of the skull, and the paranasal and mastoid sinuses are underpneumatized. Laboratory findings are: - Elevated serum levels of osteoclast-derived tarate-resistant acid phosphatase (TRAP) Elevated brain isoenzyme of creatine kinase. Low serum calcium
Paget's disease
Osteogenesis imperfecta
Osteomalacia
Osteopetrosis
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