Lecture for oral MD examination.

Dr/ ABD ALLAH NAZEER. MD.

Hemolytic AnemiaHemolytic 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:IntrinsicThe 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.ExtrinsicRed 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 streptococcusMedications, such as penicillin, antimalaria medications, sulfa medications, or acetaminophenLeukemia or lymphomaAutoimmune disorders, such as systemic lupus erythematous (SLE, or lupus), rheumatoid arthritis, Wiskott-Aldrich syndrome, or ulcerative colitisVarious tumorsHypersplenism

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 skinJaundice, or yellowing of the skin, eyes, and mouthDark-colored urineFeverWeaknessDizzinessConfusionIntolerance to physical activityEnlargement of the spleen and liverIncreased heart rate (tachycardia)Heart murmur

H-shaped vertebrae of sickle cell disease.

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

H-shaped vertebrae in patient with sickle cell disease.

H-shaped vertebrae.

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

H-Shaped vertebra in sickle cell disease.

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).

Extramedullary Hematopoiesis in Thalassemia.

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.

Chronic hemolytic anemia .

Chronic hemolytic anemia .

Thalassemia intermedia.

Skull – marrow hyperplasia.

MEDIASTINAL EXTRAMEDULLARY HEMATOPOIESIS IN HEMOLYTIC ANEMIA.

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

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

Bone infarct.

Bone infarct.

Bone infarct.

Bone infarction.

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.

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

Subperiosteal bone resorption

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

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

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

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

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.

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

Chondrocalcinosis.

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

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.

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).

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 calcificationsbrown tumours

aluminum intoxication, e.g. if the patient is on dialysisRadiographic featuresImaging findings are many and varied :osteopaenia : often seen early, thinning of cortices and trabeculaesalt and pepper skullsubperiosteal 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 platesdemineralization : usually subperisosteal, however it may also involve joint margins, endosteal, subchondral, subligamentous areas, cortical bone or trabeculae soft tissue calcificationamyloid deposition : erosion in and around jointFractures.

Signs and symptoms:Renal osteodystrophy may exhibit no symptoms; if it does show symptoms, they include: Bone pain, Joint painBone deformationBone fractureDiagnosis: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 diagnosisosteomalaciarheumatoid arthritisseronegative spondyloarthropathiesneoplasms - multiple myeloma, metastases; brown tumours can mimic primary malignant tumour of bone; amyloid deposition may mimic PVNS or synovial chondromatosisInfectionsoccult marrow abnormality.

Brown tumours

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

Renal osteodystrophy.

Chronic renal failure reveals diffuse osteosclerosis

Renal osteodystrophy.

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).

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

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

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

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

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.

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

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).

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

Neurofibromatosis Type 1.What is Neurofibromatosis Type 1Neurofibromatosis 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 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.

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 fromour mother and one copy from our father. Genes act like a set of instructions, controllingour growth and how our bodies work. Any alteration in these instructions is called amutation (or change). Mutations (or changes) can stop a gene from working properly. Amutation (change) in a gene can cause a genetic disorder. Genes are responsible formany of our characteristics, such as our eye color, blood type or height.

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

Neurofibromatosis - type 1

Neurofibromatosis Type 1.

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).

NEUROFIBROMATOSIS TYPE 1.

Neurofibromatosis type 1.

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

Plexiform neurofibroma in neurofibromatosis type 1.

Plexiform neurofibroma

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

Optic glioma. CT and MR T1WI in NF1

Neurofibromatosis Type 1 with optic glioma and basal ganglionic hamartoma .

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

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

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).

Optic pathway gliomas in neurofibromatosis.

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.

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

Neurofibromatosis 2 with acoustic neuroma and multiple meningioma.

Vestibular schwannomas in neurofibromatosis type 2.

Neurofibromatosis, type II.

Laryngeal Neurofibroma Associated with Neurofibromatosis Type 2

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.

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

Vascular dysplasia in neurofibromatosis.

Sprengel's Shoulder

Sprengel's Shoulder

Madelung Deformity

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.

Maffucci syndrome

Multiple Enchondroma or Ollier's disease.

Ollier's disease.

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.

Intracranial enchondroma in Ollier disease.

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.

Tuberous Sclerosis

Tuberous sclerosis.

Tuberous sclerosis.

Tuberous sclerosis.

Tuberous sclerosis.

Focal Cerebellar Lesions in a Young Tuberous Sclerosis.

ANGIOMYOLIPOMA IN TUBEROUS SCLEROSIS.

Two cases of angiomyolipoma (tuberous sclerosis).

Two cases of angiomyolipoma (tuberous sclerosis).

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.

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

Classical lissencephaly showing the four severity grades

Lissencephaly - "smooth brain" with Pachygyria.

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

Transmantal dysplasia

Periventricular heterotopia

FLAIR sequence shows bilateral perisylvian polymicrogyria (arrows).

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.

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

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

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

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.

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.

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

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

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

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.

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

ALOBAR HOLOPROSENCEPHALY.

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

Alobar holoprosencephaly.

Alobar holoprosencephaly.

Semilobar Holoprosencephaly

Semilobar Holoprosencephaly.

Semilobar Holoprosencephaly.

Lobar holoprosencephaly

LOBAR HOLOPROSENCEPHALY

LOBAR HOLOPROSENCEPHALY

LOBAR HOLOPROSENCEPHALY

Septooptic Dysplasia-De Morsier Syndrome

Septooptic Dysplasia-De Morsier Syndrome.

Alobar holoprosencephaly .

Thank You.