A 25-year-old patient presented with maxillofacial trauma from domestic violence. CT scans showed no bone injuries but did reveal bone marrow hyperplasia and H-shaped vertebrae consistent with sickle cell anemia. The document then provides details on sickle cell disease, its pathophysiology including vaso-occlusive crises and skeletal manifestations such as bone marrow hyperplasia, bone infarctions, and extramedullary hematopoiesis. Examples of skeletal manifestations in other sickle cell patients are also shown.

1. A 25-year old patient with a
history of domestic violence?
M. Torfs
UZA
Staff meeting Radiology, 06-02-2014

2. Case presentation
• Medical history: unknown
• Current medical problems:
o Unclear anamnesis
o Maxillofacial trauma: elbow strike against mandibula
o Painful temporomandibular joints
• Domestic violence?

3. CT-scan: VR

4. CT-scan: VR

5. CT-scan: VR

6. CT-scan: VR

7. CT-scan: VR

8. CT-scan: VR

9. CT-scan: VR

10. CT-scan: VR

11. CT-scan: VR

12. CT-scan: VR

13. CT-scan: VR

14. Diagnosis?
• No posttraumatic injury

15. CT-scan: bone window

16. Diagnosis?
• Sickle cell anemia:
 Bone marrow hyperplasia
 H vertebrae

17. Skeletal manifestations in sickle
cell disease
 Epidemiology
 Pathophysiology
 Clinical features
 Imaging

18. Sickle cell disease (SCD)
• First described in the medical literature by the
American physician James B Herrick in 1910
• Almost 300,000 children are born with a form
of sickle-cell disease every year, mostly in sub-
Saharan Africa, but also in other countries
such as the West Indies and tribals of South
Asia, and in people of African origin elsewhere
in the world

19. Distribution of sickle cell
trait
Historical distribution of
malaria
Wikipedia

20. Sickle cell disease (SCD)
• Hereditary blood disorder, characterised by an abnormality
in the oxygen-carrying haemoglobin molecule in RBC’s
(hemoglobinopathy)
• Homozygosity for the abnormal hemoglobin, hemoglobin S
(HbS) – autosomal recessive
• The disorder is most severe in patients with homozygosity
for HbS, of intermediate severity in hemoglobin SC disease
(HbSC, combined heterozygosity for hemoglobins S and C),
and generally benign in those with sickle cell trait
(heterozygosity for HbS)

21. The National Heart, Lung, and Blood Institute (NHLBI) - http://www.nhlbi.nih.gov/health/health-topics/topics/sca/

22. Sickle cell disease
• Clinically characterised by vaso-occlusive phenomena
and hemolysis
• Vaso-occlusion results in recurrent painful episodes
(previously called sickle cell crisis) and a variety of
serious organ system complications that can lead to
life-long disabilities and/or early death.
• Various complications including stroke (silent or
symptomatic), acute chest syndrome, serious bacterial
infections due to hyposplenism, …

23. Skeletal manifestations in sickle cell
disease
• Result of changes in bone and bone marrow
caused by the chronic tissue hypoxia that is
exacerbated by episodic occlusion of the
microcirculation by the abnormal sickle cells
• Main processes that lead to bone and joint
destruction in sickle cell disease are infarction of
bone and bone marrow, compensatory bone
marrow hyperplasia, secondary osteomyelitis,
and secondary growth defects

24. Mystatdx.com

25. Skeletal manifestations in sickle cell
disease
• Bone marrow hyperplasia caused by chronic anaemia
• Infarction of bone and bone marrow in patients with
sickle cell disease can lead to the following changes:
- osteolysis (in acute infarction)
- osteonecrosis (avascular necrosis/aseptic necrosis)
- articular disintegration
- myelosclerosis
- periosteal reaction (unusual in the adult)
- H vertebrae (steplike endplate depression also known as
the Reynold sign or codfish vertebrae)
- dystrophic medullary calcification
- bone-within-bone appearance

26. Bone marrow hyperplasia in SCD
• The shortened survival time of the erythrocytes in sickle cell
(10-20 days) leads to a compensatory marrow hyperplasia
throughout the skeleton. The bone marrow hyperplasia has
the resultant effect of weakening the skeletal tissue by
widening the medullary cavities, replacing trabecular bone
and thinning cortices.
Hair-on-end appearance.
Medscape

27. Bone marrow hyperplasia in SCD
• Extramedullary hematopoiesis (EMH):
o Response to erythropoiesis failure in BM
o Occurs most often in the spleen and liver and
occasionally in the lymph nodes. Less common
organs include the pleura, lungs, gastrointestinal
tract, breast, skin, brain, kidneys, and adrenal
glands.
Gumbs RV, Higginbotham-Ford EA, Teal JS, Kletter GG, Castro O. Thoracic extramedullary
hematopoiesis in sickle-cell disease. AJR Am J Roentgenol. 1987 Nov;149(5):889-93

28. Bone infarctions
• Bone infarcts typically involve medullary
cavities and epiphyses
• The proximal humeri, proximal femora, and
vertebral bodies are often affected
Radiopaedia.org

29. Hand-foot syndrome
• Often initial manifestation, in child 0.5-2 years
• Swelling, decreased range of motion of digits
• Occurs with new onset of cold temperatures & resultant
vasoconstriction
• Results from bone infarcts in the diaphyses of small long
bones
• Self limiting, days to weeks

30. Patient B: 12-year old boy with SCD

31. 12-year old boy with SCD

32. 12-year old boy with SCD
Dystrophic medullary
calcifications

33. 12-year old boy with SCD
Splenomegaly H-shaped vertebrae

34. 12-year old boy with SCD
Distortion of the proximal
femoral epiphyses (L>R)
after Legg-Calvé Perthes

35. Patient C: 3-year old girl with proptosis
Subperiosteal hemorrhage associated to bone
infarction

36. SCD: take home messages
• Hereditary hemoglobinopathy, characterised by
vaso-occlusive phenomena and hemolysis
• Various complications including stroke (silent or
symptomatic), acute chest syndrome, serious
bacterial infections due to hyposplenism, …
• Skeletal manifestations include bone marrow
hyperplasia, extramedullary hematopoiesis and
bone infarctions

37. References
• Statdx.com
• Uptodate.com
• Wikipedia.org
• Gumbs RV, Higginbotham-Ford EA, Teal JS, Kletter
GG, Castro O. Thoracic extramedullary
hematopoiesis in sickle-cell disease. AJR Am J
Roentgenol. 1987 Nov;149(5):889-93