J. Blöcker, G. Hahn (Dresden)  

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14 Weeks  

Female  

Generalized diseases  

congenital  

Fourteen week old female where blindness was noticed. Ophthalmologist found an atrophic optic nerve. Further examination showed the following:
- nanism
- anemia
- hepatomegaly  

- Autosomal recessive disorder
- Osteoclast insufficiency --> the breakdown of the mineralized cartilage and bone matrix is disturbed, even though bone constuction is normal. The bone's inner compartments are filled with bony structures, and the bone marrow is repressed.  

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> X-ray 1: Hand/forearm a.p.: Obvious increased sclerosis, marrow is not marcated, frayed metaphyses particularly distal. The bone seems to be surrounded unevenly by thicker and thinner bone tissue - "bone-in-bone-appearance"


<- view X-Ray 2

X-ray 2: Skull a.p.: Sclerosis of the skull and base, emphasis of the orbital edges - "Mephisto Mask" -, the jaw is not affected, increased sclerosis of the shown thorax apeture, the thoracic vertebral bodies as well as the cervical vertebral bodies; The hyoid bone is already calcified.






<- view X-Ray 3

X-ray 3: Skull lateral: Sclerosis of the skull and base, emphasis of the orbital edges - "Mephisto Mask" -, the jaw is not affected, increased sclerosis of the shown thorax apeture, the thoracic vertebral bodies as well as the cervical vertebral bodies; The hyoid bone is already calcified.



 

Total constellation (Consens)  

The skull findings are pathognomonic.
In diffuse osteosclerosis:
-hematological illnesses (Osteomyelofibrosis, Gaucher's disease)
-toxicosis
-hypervitaminosis  

Before the bone marrow transplant, no child survived the first decade of life. A pathophysiologic unclear rachitis can also occur. After successful bone marrow transplant, a complete normalization can be seen. Occurring nerval paralysis remains.  

In the sense of "duplicating experiences," a second case of this rather rare disease was diagnosed in our institution within a half of a year.  

N/A  

1. Medline:
M.Reiser, E. Peters
Radiologische Differentialdiagnose der Skeletterkrankungen
Georg Thieme Verlag; 1995

2. Medline:
J.W. Spranger, P.W. Brill, A. Poznanski
Bone Dysplasias
Urban und Fischer; 2002

3. Medline:
Schinz
Radiologische Diagnostik in Klinik und Praxis, Band IV - Teil 2
Georg Thieme Velag; 1991  

Marble Bone Disease, generalised sklerosis, Osteochondrodysplasia, Osteopetrosis, infantile, malignant type, marble bones, child, childhood, pediatric radiology  

J Blöcker, G Hahn. Osteopetrosis (infantile, malignant Type), Marble Bone Disease. PedRad [serial online] vol 3, no. 8.
URL: www.PedRad.info/?search=20030805114418