Figure 1
Pelvis radiography.
Endobones are seen in the pelvis, especially in iliac wings, proximal femora, acetabula and sacrum.
Albers-Schonberg disease
SectionMusculoskeletal system
Case TypeClinical Cases
AuthorsGaleotti Sara, Pascale Rachele, Tani Umberto, Calderazzi Andrea, Bartolozzi Carlo.
Connected authors
13 years, male
Clinical History
A young patient, 13 year old, was referred to our department to perform a vertebral column radiography requested from his orthopaedic in the assessment of scoliosis.
Imaging Findings
A young patient, 13 year old, was referred to our department to perform a vertebral column radiography requested from his orthopaedic in the assessment of scoliosis.
The radiographs showed as incidental findings pathognomonic signs of osteopetrosis type II (Fig.1.2.3). Careful analysis of the family history revealed that the cousin of the patient was diagnosed previously with the same disease.
The radiographs showed as incidental findings pathognomonic signs of osteopetrosis type II (Fig.1.2.3). Careful analysis of the family history revealed that the cousin of the patient was diagnosed previously with the same disease.
Discussion
Osteopetrosis (marble bone disease) is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs caused by impaired osteoclast maturation or function resulting in decreased bone resorption and modelling.
The same pathophysiological mechanism groups heterogeneous clinical and genetic types mainly distinguished in the severe infantile recessive and the more benign autosomal dominant types. The designation Albers Schonberg disease pertains to the autosomal delayed or benign form of osteopetrosis. The recessive type is also known as malignant osteopetrosis and presents in early childhood with fractures and the sequelae of pancytopaenia due to marrow space obliteration. Neurological complications are common, and are secondary to raised intracranial pressure due to calvarial expansion, and narrowing of the cranial foramina resulting in cranial nerve, spinal cord and vascular compression. Tooth eruption defects and severe dental caries are also common. This type of osteopetrosis is associated with a diminished life expectancy, with most untreated children dying in the first decade as a complication of bone marrow suppression. Patients with autosomal dominant form are phenotypically normal and usually asymptomatic, the diagnosis is often incidentally made on plain radiographs done for other reasons. Symptoms, when present may be directly related to the osteosclerosis such as cranial nerve affection caused by bony overgrowth around the foramina. Bone pain, increased fracture frequency are other well-known symptoms. Life span is normal and general health is unimpaired. There is a considerable number of clinical and radiographic variations in the autosomal dominant osteopetrosis, and two distinct radiologic types are generally distinguished. In type I, pronounced sclerosis of the skull and thickening of the cranial vault are evident, while the spine is almost normal. In type II, sclerotic vertebral end-plates alternate with the radiolucent regions of the disc spaces and the midportions of the vertebral bodies, producing a "sandwich” vertebra or “hamburger” vertebra appearance. This aspect of the spine is also defined "rugger jersey” spine. Another typical sign of osteopetrosis type II is represented by the so called endobones, found in the pelvis, especially within the ileum. This bone in bone appearance with several alternating bands of sclerosis and normal bone density suggests a cyclic course of defective bone formation, alternating with periods of normal bone formation. In type II the calvaria is almost unaffected. The classification of sclerosing bone dysplasias is made by a target site approach, so the radiologist plays a pivotal role in their recognition. Pycnodysostosis resembles osteopetrosis, both are dysplasias affecting endochondral ossification but dwarfism, short fingers with acro-osteolysis, mandible hypoplasia and lack of pneumatization of the paranasal sinuses characterize pycnodysostosis. Another dysplasia affecting endochondral and intramembranous ossification, dysosteosclerosis, resembles osteopetrosis but typically platyspondyly, hypoplasia of the pelvis and a radiolucent appearance of the widened metaphyseal portions of tubular bones are present. Infantile osteopetrosis warrants treatment because of the adverse outcome associated with the disease. Adult osteopetrosis requires no treatment by itself, though complications of the disease might require intervention.
The same pathophysiological mechanism groups heterogeneous clinical and genetic types mainly distinguished in the severe infantile recessive and the more benign autosomal dominant types. The designation Albers Schonberg disease pertains to the autosomal delayed or benign form of osteopetrosis. The recessive type is also known as malignant osteopetrosis and presents in early childhood with fractures and the sequelae of pancytopaenia due to marrow space obliteration. Neurological complications are common, and are secondary to raised intracranial pressure due to calvarial expansion, and narrowing of the cranial foramina resulting in cranial nerve, spinal cord and vascular compression. Tooth eruption defects and severe dental caries are also common. This type of osteopetrosis is associated with a diminished life expectancy, with most untreated children dying in the first decade as a complication of bone marrow suppression. Patients with autosomal dominant form are phenotypically normal and usually asymptomatic, the diagnosis is often incidentally made on plain radiographs done for other reasons. Symptoms, when present may be directly related to the osteosclerosis such as cranial nerve affection caused by bony overgrowth around the foramina. Bone pain, increased fracture frequency are other well-known symptoms. Life span is normal and general health is unimpaired. There is a considerable number of clinical and radiographic variations in the autosomal dominant osteopetrosis, and two distinct radiologic types are generally distinguished. In type I, pronounced sclerosis of the skull and thickening of the cranial vault are evident, while the spine is almost normal. In type II, sclerotic vertebral end-plates alternate with the radiolucent regions of the disc spaces and the midportions of the vertebral bodies, producing a "sandwich” vertebra or “hamburger” vertebra appearance. This aspect of the spine is also defined "rugger jersey” spine. Another typical sign of osteopetrosis type II is represented by the so called endobones, found in the pelvis, especially within the ileum. This bone in bone appearance with several alternating bands of sclerosis and normal bone density suggests a cyclic course of defective bone formation, alternating with periods of normal bone formation. In type II the calvaria is almost unaffected. The classification of sclerosing bone dysplasias is made by a target site approach, so the radiologist plays a pivotal role in their recognition. Pycnodysostosis resembles osteopetrosis, both are dysplasias affecting endochondral ossification but dwarfism, short fingers with acro-osteolysis, mandible hypoplasia and lack of pneumatization of the paranasal sinuses characterize pycnodysostosis. Another dysplasia affecting endochondral and intramembranous ossification, dysosteosclerosis, resembles osteopetrosis but typically platyspondyly, hypoplasia of the pelvis and a radiolucent appearance of the widened metaphyseal portions of tubular bones are present. Infantile osteopetrosis warrants treatment because of the adverse outcome associated with the disease. Adult osteopetrosis requires no treatment by itself, though complications of the disease might require intervention.
Differential Diagnosis List
Albers-Schonberg disease, autosomal dominant form type II.
Final Diagnosis
Albers-Schonberg disease, autosomal dominant form type II.
References
[1] Vanhoenacker F.M., De Beuckeleer L.H., Van Hul W., et al. Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol 2000;10:1443-1433. (PMID: 10997431)
[2] Andersen P.E Jr, Bollerslev J. Heterogeneity of autosomal dominant osteopetrosis. Radiology 1987;164(1):223-225. (PMID: 3588909)
[3] Stark Z., Savarirayan R. Osteopetrosis. Orphanet J Rare Dis 2009; 4:5. (PMID: 19232111)
Case information
| URL: | https://www.eurorad.org/case/7393 |
| DOI: | 10.1594/EURORAD/CASE.7393 |
| ISSN: | 1563-4086 |
Figure 2
PA radiograph of the spine.
The plain radiograph shows sclerotic vertebral end-plates that alternate with the radiolucent regions of the disc spaces and the midportions of the vertebral bodies, producing a sandwich vertebra or “hamburger” vertebra appearance.
Figure 3
Lateral radiograph of the spine.
Sclerosis seen at the cartilaginous vertebral end-plates produces a typical spine aspect known as Rugger-Jersey spine.
Pelvis radiography.
Endobones are seen in the pelvis, especially in iliac wings, proximal femora, acetabula and sacrum.
PA radiograph of the spine.
The plain radiograph shows sclerotic vertebral end-plates that alternate with the radiolucent regions of the disc spaces and the midportions of the vertebral bodies, producing a sandwich vertebra or “hamburger” vertebra appearance.
Lateral radiograph of the spine.
Sclerosis seen at the cartilaginous vertebral end-plates produces a typical spine aspect known as Rugger-Jersey spine.