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Mohit Goel

AKA: Albers-Schnberg Disease = Marble Bone Disease

Rare hereditary disorder

There is defective osteoclast function and overgrowth of bone: which

become thick, dense and sclerotic.

However, their increased size does not improve their strength. Instead,
their disordered architecture, results in weak and brittle bones that
results in multiple fractures with poor healing.

There are two separate sub types of osteopetrosis:

Infantile autosomal recessive osteopetrosis

Benign adult autosomal dominant osteopetrosis
Autosomal recessive osteopetrosis

Infantile autosomal recessive osteopetrosis is the more

severe form that tends to present earlier. Hence, it is referred
to as "infantile" and "malignant, compared to the autosomal
dominant osteopetrosis.


The natural history of the condition means that by age 6, 70%

of the affected will die.

Most of the remainder have a very poor quality of life with

death resulting by the age of 10.
Those who survive childbirth present with :

failure to thrive
cranial nerve entrapment
snuffling (nasal sinus architecture abnormalities)
pancytopaenia (anaemia, leukopaenia and thrombocytopaenia)
hepatosplenomegaly (extramedullary haemopoesis)
intracerebral haemorrhage (thrombocytopaenia)

One of the commonest presentations is with ocular disturbance: failure to

establish fixation, nystagmus or strabismus.
The cause of these symptoms is compression of the cranial nerve roots
because of foraminal overgrowth.
Radiographic features

Plain film

Patients generally have a weak and dense skeleton which may have
multiple healed fractures.
Metaphyseal splaying may also be apparent.

mandible : characteristic triangular opacity representing calcification

within the secondary condylar cartilage ossification center.

defective dentition with incomplete enamel formation and denatal caries.

poorly pneumatized paranasal sinuses (ethmoid sinuses least severely


calvarium : high-attenuation inner table, a broad, low-attenuation diploic
space, and a less high-attenuation outer table
"hair-on-end" appearance : areas of increased haematopoietic activity.

Sclerotic bone demonstrate low signal intensity on both T1- and T2-
weighted MR images;
Areas containing marrow have intermediate signal intensity.
Lateral radiograph of the skull reveals diffuse thickening of the calvarium,
most significant in the region of the occiput. The partially visualized upper
cervical vertebrae and maxilla are also dense and thickened.
Sagittal T1-weighted MR image shows thickening of the calvaria and facial bones
with hypointensity of skull and cervical vertebra, and cerebellar tonsillar ectopia.
Severe bilateral optic canal narrowing (arrows) in a 4-yr-old patient with complete
loss of vision in the left eye and 20/80 visual acuity in the right eye.
Axial T2-weighted FSE image shows optic canal stenosis and optic nerve
Autosomal dominant osteopetrosis

The autosomal dominant type is less severe than its autosomal recessive
mate. Hence, it is also given the name "benign" or "adult" since patients
survive into adulthood.

50% patients are asymptomatic

Recurrent fractures
Mild anemia
Rarely cranial nerve palsy

X-ray findings
Diffuse osteosclerosis
Cortical thickening with medullary encroachment
Erlenmeyer flask deformity = clublike long bones due to lack of
tubulization + flaring of ends
Bone-within-bone appearance
"Sandwich" vertebrae = alternating sclerotic + radiolucent transverse
metaphyseal lines (phalanges, iliac bones) indicate fluctuating course of
Longitudinal metaphyseal striations
Mandible least involved.
Spine radiographs reveal the classic sandwich vertebrae of osteopetrosis (red
arrows). This is manifested as thickening and sclerosis of the vertebral endplates,
and of the bone adjacent to the endplates.

There is also marked thickening of the posterior vertebrae (yellow arrows),

especially in the vertebral arch.
Chest radiograph obtained in an infant demonstrates overall increased density of
the osseous structures due to the accumulation of immature bone.
Generalized increased density of the bones
and alternating areas of increased and
decreased density in the metaphyses (bone-
within-bone appearance).
Densely sclerotic bone with erlenmeyer flask deformity of the femurs with under-
tubulularization (lack of trabeculation) block femoral meatphyses.
Differential diagnoses

heavy metal poisoning
hypervitaminosis D
fibrous dysplasia of skull or face

Patients with pyknodysostosis present with a complex of characteristic

features, including

pectus excavatum
short fingers from acro-osteolysis
hypoplasia of the facial bones, causing dysmorphic facial features.

Radiographically, there is generalized osteosclerosis similar to osteopetrosis,

but with preservation of the medullary canal of long bones.

Dense vertebral bodies with characteristic sparing of the transverse

processes is seen.
Because the medullary cavities are preserved,
patients with pyknodysostosis (unlike patients
with osteopetrosis) tend not to have
concurrent anemia.

On the other hand, as with osteopetrosis, the

bones are brittle and prone to recurrent

Radiographs of the left tibia and fibula show

hyperostosis with preservation of the medullary
A subacute fracture is noted in the mid-diaphysis of
the tibia, a common finding in patients with

Melorheostosis (Leri disease) is a type of mixed sclerosing bone dysplasia,

with disturbances in both endochondral and intramembranous ossification.

The disorder is sporadic and typically manifests in late childhood or early


Characteristic radiographic appearance consisting of cortical and medullary

hyperostosis of a single bone or multiple adjacent bones with a flowing
dripping candle wax appearance.

The skeletal lesions may progress throughout life, with the lower extremities
being more commonly affected than the upper extremities.

The skeletal abnormalities, as well as the extraosseous involvement, typically

have a sclerotome distribution, leading some investigators to suggest that this
may be an acquired defect related to spinal sensory nerves.
Melorheostosis in a 77-year-old man.

Anteroposterior radiographs demonstrate

the classic dripping candle wax
appearance of cortical and medullary
hyperostosis involving the lateral aspect of
the femur