1. Lecture for oral
MD examination.
Dr/ ABD ALLAH NAZEER. MD.

2. Hemolytic Anemia
Hemolytic anemia is a disorder in which the red blood cells are destroyed faster than the
bone marrow can produce them. The term for destruction of red blood cells is hemolysis.
There are two types of hemolytic anemia, intrinsic and extrinsic:
Intrinsic
The destruction of the red blood cells is due to a defect within the red blood cells
themselves. Intrinsic hemolytic anemia's are often inherited, such as sickle cell anemia
and thalassemia. These conditions produce red blood cells that do not live as long as
normal red blood cells.
Extrinsic
Red blood cells are produced healthy but are later destroyed by becoming trapped in the
spleen, destroyed by infection, or destroyed from drugs that can affect red blood cells. In
severe cases the destruction takes place in the circulation. Possible causes of extrinsic
hemolytic anemia include:
Infections, such as hepatitis, cytomegalovirus (CMV), Epstein-Barr virus (EBV), typhoid
fever, E. coli (escherichia coli), mycoplasma pneumonia, or streptococcus
Medications, such as penicillin, antimalaria medications, sulfa medications, or
acetaminophen
Leukemia or lymphoma
Autoimmune disorders, such as systemic lupus erythematous (SLE, or lupus), rheumatoid
arthritis, Wiskott-Aldrich syndrome, or ulcerative colitis
Various tumors
Hypersplenism

3. What are the symptoms of hemolytic anemia?
The following are the most common symptoms of hemolytic
anemia. However, each individual may experience symptoms
differently. Symptoms may include:
Abnormal paleness or lack of color of the skin
Jaundice, or yellowing of the skin, eyes, and mouth
Dark-colored urine
Fever
Weakness
Dizziness
Confusion
Intolerance to physical activity
Enlargement of the spleen and liver
Increased heart rate (tachycardia)
Heart murmur

5. H-shaped vertebrae of sickle cell disease.

6. H-shaped vertebrae. Lateral radiograph of the thoracic spine showing H-shaped
vertebral bodies (arrow) caused by endplate ischemic changes.

7. H-shaped vertebrae in patient with sickle cell disease.

8. H-shaped vertebrae.

9. Lateral (a) and frontal (b) plain radiographs of the spine showing multiple
H-shaped vertebral bodies (*) in a 16-year-old boy with sickle cell anemia.

10. H-Shaped vertebra in sickle cell disease.

11. Plain radiograph of
an 8-year-old girl
with sickle cell
anemia, showing
thickening of the
cortex of the tibia,
with a laminated
appearance (bone-within-
bone).

12. Extramedullary Hematopoiesis in Thalassemia.

13. Thalassemia major. (A)
Lateral radiograph of the
skull demonstrating the
“hair-on-end” appearance.
AP (B) and lateral (C)
radiographs of the knee
show marrow expansion,
thin cortex with sparse
trabeculae, and the
Erlenmeyer flask deformity
in the femur (B).
Radiograph of the hand (D)
demonstrating marrow
hyperplasia with cystic
lesions. Axial CT image (E)
shows expansion of the ribs
and soft tissue masses
caused by extramedullary
hematopoiesis.

14. Chronic hemolytic anemia .

16. Chronic hemolytic anemia .

17. Thalassemia intermedia.

18. Skull – marrow hyperplasia.

19. MEDIASTINAL EXTRAMEDULLARY HEMATOPOIESIS IN HEMOLYTIC ANEMIA.

21. Male with thalassemia intermedia. AP and lateral lumbar radiographs show
severe osteopenia, hepatosplenomegaly, and T12 compression fracture.

22. Male with thalassemia intermedia. T1-weighted coronal image
shows markedly enlarged, hypointense liver and splenomegally.

23. Bone infarct.

24. Bone infarct.

25. Bone infarct.

26. Bone infarction.

27. Plain radiograph of a 4-year-old boy with sickle cell anemia, showing left
hip avascular necrosis (circle). Left femoral head has an irregular border
and multiple lytic and sclerotic areas with a patchy distribution.

28. Plain radiograph showing lytic and sclerotic areas with a patchy distribution
in the tibial shaft of a 7-year-old girl with history of infarction.

34. Subperiosteal
bone resorption

35. Subperiosteal bone resorption affecting the radial aspect of the middle
phalanges of the fingers. Note the extensive digital arterial calcification.

36. Subligamentous bone resorption of the inferior surface of the lateral ends of the clavicles.

37. Large para-articular erosions in the heads of the right third and fourth metatarsal bones.

41. Classic rugger-jersey spine caused by ill-defined bands of increased
bone density adjacent to the vertebral endplates.

43. Brown tumor in the region of the tibial tuberosity (left) and healing of the lesion
after vitamin D therapy (right). Also note improved mineralization of the bones.

44. Multiple expansile brown tumors in the medial border of the left
scapula and in several of the ribs and pubic bones (black arrows).

45. Chondrocalcinosis.

46. Multiple pseudofractures. Note the osteosclerosis and a brown
tumor in the region of the intertrochanteric line of the left femur.

47. Radiograph of the left hand
of a 6-year-old girl with
chronic renal failure shows
ulnar bowing of the distal
radius and ulna, mild
widening of the growth
plates associated with a
slight irregularity of the
metaphyseal margins,
coarsening of the
trabecular pattern, and
periosteal new bone
formation around the
metaphyses of the
metacarpals and
phalanges. The appearance
is that of rickets and/or
renal osteodystrophy.

48. Plain radiograph of the skull of a 39-year-old woman demonstrates
malabsorption syndrome with the biochemical features of osteomalacia. The
image shows a granular pattern of the skull. Note the brown tumor (arrow).

49. Renal osteodystrophy (ROD) is the constellation of musculoskeletal
abnormalities that occur in patients with chronic renal failure, due to concurrent
and superimposed:
osteomalacia (adults) / rickets (children)
secondary hyperparathyroidism (abnormal calcium and phosphate metabolism)
bone resorption, osteosclerosis, soft tissue & vascular calcifications
brown tumours
aluminum intoxication, e.g. if the patient is on dialysis
Radiographic features
Imaging findings are many and varied :
osteopaenia : often seen early, thinning of cortices and trabeculae
salt and pepper skull
subperiosteal resorption : characteristic subperiosteal resorption may be seen on
radial aspects of middle phalanges of index and long fingers.
rugger-jersey spine : sclerosis of the vertebral body end plates
demineralization : usually subperisosteal, however it may also involve joint
margins, endosteal, subchondral, subligamentous areas, cortical bone or
trabeculae
soft tissue calcification
amyloid deposition : erosion in and around joint
Fractures.

50. Signs and symptoms:
Renal osteodystrophy may exhibit no symptoms; if it does show symptoms, they
include: Bone pain, Joint pain
Bone deformation
Bone fracture
Diagnosis:
Renal osteodystrophy is usually diagnosed after treatment for end-stage renal
disease begins. Blood tests will indicate decreased calcium and calcitriol (vitamin D)
and increased phosphate and parathyroid hormone. X-rays will also show bone
features of renal osteodystrophy (chondrocalcinosis at the knees and pubic
symphysis, osteopenia and bone fractures) but may be difficult to differentiate from
other conditions.
Differential diagnosis
osteomalacia
rheumatoid arthritis
seronegative spondyloarthropathies
neoplasms - multiple myeloma, metastases; brown tumours can mimic primary
malignant tumour of bone; amyloid deposition may mimic PVNS or synovial
chondromatosis
Infections
occult marrow abnormality.

51. Brown tumours

52. Expansile lytic lesion (brown tumor) in the distal ulna and femur (arrows).

53. Renal osteodystrophy.

54. Chronic renal failure reveals diffuse osteosclerosis

55. Renal osteodystrophy.

56. Chronic renal failure reveals cupping and
fraying of the metaphyses and irregularity
of the epiphyseal margins compatible with
renal rickets (arrowheads).
Chronic renal failure reveals a
Looser fracture (pseudofracture) at
the proximal medial tibia (arrow).

57. Subchondral erosion at the articular surface bilaterally and proximal medial humerus (arrows).

58. Lateral radiograph of the calvarium reveals punctate trabecular
bone resorption that has a salt-and-pepper appearance

59. Lateral radiograph of the calvarium reveals punctate trabecular
bone resorption that has a salt-and-pepper appearance.

60. Renal failure reveals subperiosteal resorption along the phalanx (arrows), as
well as resorption of the distal tuft (arrowheads) with vascular calcification.

61. Anteroposterior radiograph of the hand in a patient with chronic renal failure
reveals subchondral and subperiosteal bone resorption predominating at the
joint margins (arrows), which resembles the erosions of rheumatoid arthritis.

62. Oblique radiograph of the hand in a dialysis patient reveals multifocal, large,
amorphous calcific deposits (tumoral calcinosis) around the hand and wrist (arrows).

63. Lateral radiograph of the leg in a child
with chronic renal failure reveals
anterior bowing of the distal tibia.
CHF with pathologic fracture in the basocervical
portion of the femoral neck (arrow).

64. Chronic renal failure reveals chondrocalcinosis of the
meniscus and triangular fibrocartilage (arrow).

65. Neurofibromatosis Type 1.
What is Neurofibromatosis Type 1
Neurofibromatosis is an inherited genetic disorder. A genetic disorder is caused by one or
more changed genes. There are at least two types of neurofibromatosis.
Neurofibromatosis Type 1 (abbreviated to NF1) is the most common form, affecting about
1 person in every 4000 in the United Kingdom. This information refers to
Neurofibromatosis Type 1 (sometimes also called Von Recklinghausen’s disease).
What are genes.
Our bodies are made up of millions of cells. Each cell contains a complete set of genes.
We have thousands of genes. We each inherit two copies of most genes, one copy from
our mother and one copy from our father. Genes act like a set of instructions, controlling
our growth and how our bodies work. Any alteration in these instructions is called a
mutation (or change). Mutations (or changes) can stop a gene from working properly. A
mutation (change) in a gene can cause a genetic disorder. Genes are responsible for
many of our characteristics, such as our eye color, blood type or height.
What gene causes Neurofibromatosis Type 1.
Everyone who has Neurofibromatosis Type 1 has a change (mutation) in the same gene.
Medical research suggests that, as a result of changes (mutations) in the gene that causes
Neurofibromatosis type 1, some of the body’s cells grow out of control. It is this growth
that cause the problems associated with Neurofibromatosis type 1.

66. Neurofibromatosis - type 1 with tibial bowing and soft tissue swelling of fibula.

67. Neurofibromatosis - type 1

68. Neurofibromatosis Type 1.

69. Extensive neurofibromas involving bilateral sciatic nerves (image a), and exiting out the
sciatic notch into the peripheral nerves of the right gluteal and thigh muscles (image b).

70. NEUROFIBROMATOSIS TYPE 1.

71. Neurofibromatosis type 1.

72. Neurofibromatosis
type 1 bright
objects in keeping
with malignant
proliferation, with
left scalp
neurofibroma.

73. Plexiform neurofibroma in
neurofibromatosis type 1.

74. Plexiform neurofibroma

75. Giant plexiform neurofibroma with hemorrhage in cranio-maxillofacial
region as depicted on CT and MRI.

76. Optic glioma. CT and MR T1WI in NF1

77. Neurofibromatosis Type 1 with optic glioma and basal ganglionic hamartoma .

78. MRI scans demonstrating optic pathway glioma in a
14-month-old child with neurofibromatosis type 1.

79. MRI scans demonstrating optic pathway glioma in a
14-month-old child with neurofibromatosis type 1.

80. T1-weighted post-contrast axial orbit MR images of patient #7 at 65
months of age (a–c), at 92 months (d–f), and at 132 months (g–i).

82. Optic pathway gliomas in neurofibromatosis.

83. Neurofibromatosis Type 2 is a rare genetic disease, which
causes nervous system tumors. We have written this pamphlet to give you
some basic information about a complicated process. We hope you will use
this information to ask more questions of your healthcare provider. We have
tried, whenever possible, to include and explain medical terminology that
you may encounter. A glossary of medical terms is included at the end of this
pamphlet.
Neurofibromatosis Type 2 (also called bilateral acoustic
neurofibromatosis or central neurofibromatosis and abbreviated as NF2,
NF11 or BAN) affects about 1 in 40,000 people without regard to sex or race.
Persons with NF2 are at a high risk for developing brain tumors and almost
all affected individuals develop tumors on both nerves to the ears (also called
the eighth cranial nerve). This nerve has two portions: the acoustic (hearing)
nerve which carries information about sound to the brain and the vestibular
nerve which carries balance information to the brain. The early symptoms of
NF2 are symptoms of dysfunction of these nerves: hearing loss, ringing in the
ears (called tinnitus) and problems with balance.

84. Neurofibromatosis Type 2 with bilateral acoustic
Schwannoma and right temporal meningioma.

85. Neurofibromatosis 2 with acoustic neuroma and multiple meningioma.

86. Vestibular schwannomas in neurofibromatosis type 2.

87. Neurofibromatosis, type II.

89. Laryngeal Neurofibroma Associated
with Neurofibromatosis Type 2

90. MRI shows bilateral vestibular schwannomas (asterisks) in a teenage girl with
NF2. b | MRI shows a meningioma (asterisk) in a young girl with NF2. c | MRI
shows multiple intraparenchymal spinal tumours, most likely ependymomas.

92. Neurofibromatosis Type 2.
Bilateral vestibular nerve
schwannomas and multiple
meningiomas.

93. Vascular dysplasia in neurofibromatosis.

96. Sprengel's Shoulder

97. Sprengel's Shoulder

98. Madelung Deformity

99. Frontal and lateral radiographs of both wrists show shortening of the ulnar
portion of the distal radii with exaggeration of the radial inclination and
proximal migration of the proximal carpal row producing a V-shape between
the radius and ulna. There is also dorsal dislocation of both ulnar heads.

100. Maffucci
syndrome

101. Multiple Enchondroma or Ollier's disease.

102. Ollier's disease.

103. Ollier disease. (A) Posterioanterior (PA) chest radiographs showing multiple expanded
calcified rib lesion (arrows). (B) PA view of the hand showing enchondromas in the second
to fourth rays. AP radiographs of the pelvis (C) and femora (D) showing multiple
enchondroma in the left femur. The largest expand the distal femur.

104. Intracranial enchondroma in Ollier disease.

105. Tuberous sclerosis--also called tuberous sclerosis complex (TSC) is
a rare, multi-system genetic disease that causes benign tumors to grow in
the brain and on other vital organs such as the kidneys, heart, eyes, lungs,
and skin. It usually affects the central nervous system and results in a
combination of symptoms including seizures, developmental delay,
behavioral problems, skin abnormalities, and kidney disease.
The disorder affects as many as 25,000 to 40,000 individuals in the United
States and about 1 to 2 million individuals worldwide, with an estimated
prevalence of one in 6,000 newborns. TSC occurs in all races and ethnic
groups, and in both genders.
The name tuberous sclerosis comes from the characteristic tuber or
potato-like nodules in the brain, which calcify with age and become hard
or sclerotic. The disorder--once known as epiloia or Bourneville's disease--
was first identified by a French physician more than 100 years ago.
Many TSC patients show evidence of the disorder in the first year of life.
However, clinical features can be subtle initially, and many signs and
symptoms take years to develop. As a result, TSC can be unrecognized or
misdiagnosed for years.

106. Tuberous Sclerosis

107. Tuberous sclerosis.

108. Tuberous sclerosis.

109. Tuberous sclerosis.

110. Tuberous sclerosis.

111. Focal Cerebellar Lesions in a Young Tuberous Sclerosis.

112. ANGIOMYOLIPOMA IN TUBEROUS SCLEROSIS.

113. Two cases of angiomyolipoma (tuberous sclerosis).

114. Two cases of angiomyolipoma (tuberous sclerosis).

115. Lissencephaly, which literally means smooth brain, is a rare
brain formation disorder caused by defective neuronal migration
during the 12th to 24th weeks of gestation resulting in a lack of
development of brain folds (gyri) and grooves (sulci). It is a form
of cephalic disorder. Terms such as 'agyria' (no gyri) or
'pachygyria' (broad gyri) are used to describe the appearance of
the surface of the brain. Children with lissencephaly generally
have significant developmental delays, but these vary greatly
from child to child depending on the degree of brain
malformation and seizure control. Life expectancy can be
shortened, generally due to respiratory problems.
Affected children display severe psychomotor retardation,
failure to thrive, seizures, and muscle spasticity or hypotonia.
Other symptoms of the disorder may include unusual facial
appearance, difficulty swallowing, and anomalies of the hands,
fingers, or toes.

116. Lissencephaly – axial MRI image, weighted T2 smooth surface, with absence of sulci and gyri

118. Classical lissencephaly showing the four severity grades

119. Lissencephaly - "smooth brain" with Pachygyria.

120. Grade 3a lissencephaly (LIS) with pachygyria in the frontal lobes.

121. Transmantal dysplasia

122. Periventricular heterotopia

123. FLAIR sequence shows bilateral perisylvian polymicrogyria (arrows).

124. Schizencephaly “open-lip” – Computed tomography (CT) axial (A) image and
MRI axial weighted T1 (B) - Transcortical cleft extending from the surface of
the right lateral ventricle to the subarachnoid periencefalic space.

125. Pachygiria – MRI axial (A) and sagittal (B) images weighted
T1, showing a few poorly formed gyri (red arrows).

126. Hemimegalencephaly. Coronal T2-weighted: Enlargement of the right
cerebral hemisphere with moderate asymmetric hydrocephalus.

127. Cortical dysplasia in the left parietal lobe with PET demonstrating
metabolic hyperactivity in correspondence.

128. Adrenoleukodystrophy - T2 weighted MR images show confluent and symmetric
bilateral hyperintense areas in the parieto-occipital deep white matter and in the
splenium of the corpus callosum, increased signal intensity in the acoustic radiation.

129. MRI in adrenoleukodystrophy. 09 months old, first-degree consanguinity, epilepsy, delayed
motor acquisitions. T2 and FLAIR and diffusion MRI showing hyperintensities which involve
parieto occipital white matter, the splenium of the corpus callosum and posterior arms of the
internal capsules. This hyper signal is bilateral and symmetrical.

130. Adrenoleukodystrophy - Restricted diffusion occurs at the periphery of the lesion.

131. Phenylketonuria - Signal change in T2-weighted and FLAIR compromising deep,
periventricular, white matter more evident in posterior regions.

132. Phenylketonuria - restricted diffusion occurs at sites of
signal change. Note that the optical radiation is spared.

133. MRI in MELAS syndrome. * 05 months old, epilepsy, hypertension + diabetes * coronal T2-
weighted and FLAIR-weighted images reveal hyperintensity involving the Right occipitaL peri
ventricular white matter. * MR spectroscopy revealed increased lactate in the occipital lobes.

134. MRI in KRABBE disease. * 3 y.o, epilepsy * FLAIR hyperintensity noted in the
posterior parietal white matter, extending to the posterior semi oval center with
hypointensities involving the thalamus and corpus callosum

136. ALOBAR HOLOPROSENCEPHALY.

137. Alobar holoprosencephaly show fusion of the cerebral
hemispheres, with a single ventricular cavity (star).

138. Alobar holoprosencephaly.

139. Alobar holoprosencephaly.

140. Semilobar Holoprosencephaly

141. Semilobar Holoprosencephaly.

142. Semilobar Holoprosencephaly.

143. Lobar holoprosencephaly

144. LOBAR HOLOPROSENCEPHALY

145. LOBAR HOLOPROSENCEPHALY

146. LOBAR HOLOPROSENCEPHALY

147. Septooptic Dysplasia-De Morsier Syndrome

148. Septooptic Dysplasia-De Morsier Syndrome.

149. Alobar holoprosencephaly .

150. Thank You.