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Osteopathia Striata

(marble bone disease)
Infantile autosomal recessive lethal (malignant) type
Intermediate recessive type
(Adult)(benign)(tarda) autosomal dominant type (Albers-Schonberg disease)(most asympto-matic)
(40% with pathologic fx)
Type I: cranial vault osteosclerosis (high incidence of conductive hearing loss)
Type II: rugger-jersey spine, ? serum acid phosphatase
Recessive type with tubular acidosis
Carbonic anhydrase II deficiency
INHERITANCE: AR, AD, molecular evidence of retroviral DNA in osteoclast genome
CLINICAL: short stature, pathologic fractures, anemia, granulocytopenia, hepatosplenomegaly, cranial nerve palsies (optic, facial, and otic), osteomyelitis, thrombocytopenia, immune incompetence, SCFE reported in type II disease, resorption of distal phalanges reported in an adult with infantile malignant type
RADIOGRAPHIC: "bone within a bone"; diffuse sclerosis, obliteration of marrow spaces; spondylolysis has been reported
PATHOLOGY: obliteration of the marrow cavity by abnormal bone because osteoclasts unable to resorb disorganized primary spongiosa; thickened physis zone of hypertrophy); no zone of calcifica-tion, osteoclasts are deficient in function (not in number), chronic internal hydrocephaly
PROGNOSIS: recurrent infections with early patient demise from anemia and sepsis
TREATMENT:bone marrow transplant may be curative in the infantile type (tx with high dose 1,25-diOH vit D and low Ca++ diet can be successful by increasing the fusion of mononuclear progenitor cells to osteoclasts); adult type can have a lifelong hx of fxs; uncemented THA although technically demanding (finding the IM canal) has been reported successful; TKA reported also


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