Osteopetrosis comes from the Greek "osteo" which means bone and "petros", stone.

Osteopetrosis is a
variation commonly referred to as "marble bone disease" and "Albers-Schönberg disease", after the
German radiologist was credited with the first description of osteopetrosis in 1904.1

Osteopetrosis is a bone disease in which abnormal bone density increases and the bones are easily
fractured. Researchers have classified osteopetrosis into several large groups, which can be
distinguished based on inheritance: autosomal dominant, autosomal recessive, or related to the X gene.
Besides that, it can also be distinguished based on the signs and symptoms of each type.

Autosomal dominant osteopetrosis (ADO) is the most common form of osteopetrosis with an incidence
of about 1 in 20,000 people. Whereas autosomal recessive osteopetrosis cases are rare, with an
incidence of about 1 in 250,000 people.1 Form- other forms of osteopetrosis are very rare. There are
only a few cases of autosomal osteopetrosis intermediates and X-linked osteopetrosis, lymphedema,
anhydrotic ectodermal dysplasia and immunodeficiency (OLEDAID) that have been reported in the
medical literature.

The prognosis of some patients with severe osteopetrosis can improve after a bone marrow transplant

A 21-year-old young woman who has pain in the right foot after slipping. No hematoma lesions, no
crepitus. Past medical history revealed that in 2002 patients often experienced epithaxis, bruising in the
body when exhausted or bumped, had experienced a severe decrease in hemoglobin to be blood
transfused and hospitalized in a private hospital, patients were diagnosed with Thalassemia. Upon
returning from the hospital patients tried alternative treatments and complaints of nosebleeds and
bruises were reduced. In 2005 the patient experienced a fall and a broken left leg.

The patient had a left hand fracture in 2007 when the patient tried to hold a neighboring child and by
orthopedic specialists the patient was repositioned and conservative for fractures of the humerus along
the middle of the media. In 2008 the patient complained of weakness, pallor, Hb 6.8, 49000 platelets,
bisopopenia, then traced with peripheral blood smears, myelofibrosis / myeloblastic anemia /
infiltration of bone marrow was obtained. The patient then examined the bone sum sum and concluded
that the bone marrow aplasia was concluded so that the final diagnosis became congenital
dyseritropoietic anemia and was treated at the Sardjito Hospital in Yogyakarta for 2 weeks. In 2009 the
patient had a fever for approximately 1 week, looked pale, weak, nausea and vomiting, had been
treated at a health center but complaints did not improve, was taken to poly hematology, there the
patient was advised to be hospitalized because of Hb 6.2 and platelets 54000, but because of the room
full finally the patient chooses to go home. In 2010 patients treated for poly orthopedics due to pain in
the right arm, were diagnosed as dextra humeral fractures and osteopetrosis based on a history of
repeated fractures and skeletal images on radiological examination.

The patient was examined in the orthopedic section and given an introduction to the extra x-ray
examination. On physical examination there is pain in the back of the right leg and a little pain when
moved. Furthermore, from the results of the pedis x-ray, the patient received a bone survey
examination with the consent of the patient to find out whether there was a fracture elsewhere, and
the following results were obtained: