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radiological features of Mucopolysaccharidoses

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dept of radiology, dr. sn medical college jodhpur

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radiological features of Mucopolysaccharidoses

  1. 1.  To describe the imaging findings common to different types of MPS.  To describe multiplex dysostosis encountered in the axial and appendicular skeleton.  To evaluate neuroradiological features of MPS, including brain abnormal signal intensity and atrophy.  To evaluate important otorhinolaryngological problems, such as otitis media and airways obstruction.
  2. 2.  The mucopolysaccharidoses (MPS) are a group of heritable lysosomal storage disorders caused by a deficiency in glycosaminoglycan (GAG)-degrading enzymes.  It results in accumulation of unprocessed or partly processed GAGs—dermatan sulphate, heparan sulphate, keratan sulphate and chondroitin sulphate—in lysosomes causing progressive damage of affected tissues, including heart, respiratory system, bones, joints and central nervous system.
  3. 3. Child with mucopolysaccharidosis showing an acrocephalic head, coarse facial features, a depressed nasal bridge and a protuberant abdomen.
  4. 4. Hurler disease
  5. 5.  Transmission occurs in an autosomal recessive fashion, except for MPS II, which is X-linked.  The typical symptoms, encountered in the majority of MPS, include organomegaly, dysostosis multiplex, mental retardation and developmental delay. Otological (otitis media) and respiratory (airway obstruction) problems can also be present.  Other manifestations include impaired vision (corneal clouding and photophobia) and cardiovascular involvement (myocardial hypertrophy, systolic dysfunction and valve dysfunction).
  6. 6.  A combination of clinical picture and analysis of urinary GAGs is usually performed to achieve the diagnosis of MPS, even though this method cannot recognise subtypes;  Definitive diagnosis is usually possible through measuring enzyme activity in cultured fibroblasts or leukocytes.
  7. 7.  Treatment consists mainly of symptomatic and supportive care, including decompression of the craniocervical narrowing, tracheostomy insertion and corneal transplantation.  In recent years the development of new therapies—represented by enzyme replacement therapies, substrate inhibition therapy and haematopoietic cell transplantation—have changed the treatment of these patients, with a fundamental shift in the approach from symptomatic management to therapeutic intervention.
  8. 8.  The most important radiological findings occur in the skeletal system with multiplex dysostosis ,a complex of anomalies involving several bones ,dominating the clinical picture in MPS IV and MPS VI.
  9. 9. Skull Macrocephaly with dolicocephaly Vertical frontal crest early closure of sagittal and lambdoid sutures Abnormal J-shaped sella turcica Thickened cortical bone Facial anomalies Lack of pneumatization of mastoid Process cells and of paranasal cavities Obtuse mandibular angle with prognatism Teeth widely spaced Temporomandibular joint ankylosis dentigerous cysts, macroglossia, calcified stylohyoid ligament
  10. 10.  J SHAPED SELLA TURCICA:  Flattened tuberculum sellae with a normal dorsal sellae.
  11. 11. J-shaped sella (white arrow)and some molars unerupted and angulated in both the jaws. Normal sella J shaped sella
  12. 12. The cortical bone of the skull is thickened. The premature closure of the sagittal suture is responsible for the development of macrocephaly with dolicocephaly, plus the metopic perisutural hyperostosis causes a vertical frontal crest.
  13. 13. Early Closure Of Sagittal Sutures Seen.
  14. 14. Thorax Paddle-shaped or oar-shaped ribs (widened anteriorly and tapered posteriorly) Short and thickened clavicles Less commonly small scapulae, usually with flattening of the glenoid cavities & short sternum.
  15. 15. PADDLE OR OAR SHAPED ribs (white arrowheads) tapered proximally and wider distally
  16. 16.  broad and short clavicles
  17. 17. Spine Craniovertebral junction: atlantoaxial instability, stenosis and compression of the spinal cord Thoracolumbar spine: gibbus Malformations of the vertebral bodies Posterior scalloping with widened interpedicular distance.
  18. 18. Flat and Rounded vertebral bodies
  19. 19. platyspondylia with “wedge-shaped”deformity “anterior beaking”with posterior scalloping due to deficient Anterosuperior corner
  20. 20.  At the craniovertebral junction level, the most important abnormalities are:  Odontoid process dysplasia-hypoplasia;  Atlantoaxial instability or subluxation;  Periodontoid tissue and ligaments thickening; & spinal stenosis.
  21. 21.  Patients with Hurler syndrome (MPS I) and Morquio syndrome (MPS IV) appear to have the highest risk of developing odontoid hypoplasia.
  22. 22. Marked kyphoscoliotic deformation of the spine, with disc hernias and vertebral bodies deformities.
  23. 23. Narrowing of the craniocervical junction (white arrow), vertebral bodies deformities (curved white arrow) and nucleus pulposus hypotrophy (white arrowhead) are well depicted.
  24. 24. cervicothoracic spine show severe kypho-scoliosis with narrowing of the spinal canal
  25. 25. Lateral radiograph shows hypoplastic odontoid process (arrow).
  26. 26. Pelvis Rounded iliac wings Inferior tapering of the ileum Hip dysplasia Poorly developed acetabulum Underdevelopment of the medial portion of the proximal femoral epiphysis Coxa valga
  27. 27. Poorly formed acetabulum Rounded iliac wings, inferior tapering of the ilea with a poorly developed acetabulum underdeveloped medial portion of the proximal femoral epiphysis normal
  28. 28. Long bones Mildly hypoplastic epiphyses Proximal humeral notching Long and narrow femoral neck Genu valgum Humeral neck varus (hatchet- shaped humerus), Wide humeral midshaft, distal radius and ulnar physes tilt toward each other
  29. 29.  Diaphyses are shortened and curved in the distal part; the epiphyses are slightly hypoplastic and thinned cortically with osteoporosis.  Notching of the proximal part of the humerus, & the long and narrow aspect of the femoral neck  Hypoplasia of the lateral tibial hemiplate, resulting in genu valgum .
  30. 30. proximal humeral notching Long and narrow femoral neck frayed and flared tibial metaphyses
  31. 31.  All segments, particularly those of the upper limb, are short and squat; they also have hypoplastic epiphyses, cortical thinning and flaring of the diaphyseal canal.
  32. 32.  In the knee joint in adulthood an advanced state of arthrosis can be recognised because of the considerable delamination of articular cartilage. These patients are potential surgical candidates for total knee arthroplasty .
  33. 33. On MRI images, the growth plate is irregularly enlarged, with multiple defects and erosions well depicted on coronal images. Delay in epiphyseal ossification may give appearance of relatively widened physis
  34. 34. Hands and feet V-shaped deformity of the hypoplastic distal ulna and radius Hypoplastic and irregularly shaped carpal and tarsal bones Proximal pointed metacarpals and metatarsals Bullet-shaped phalanges
  35. 35. normal small irregular carpal bones broad and proximally pointed short metacarpals bullet-shaped phalanges
  36. 36. Anteroposterior radiograph shows that distal radial and ulnar physes tilt toward each other (arrows).
  37. 37. normal normal V-shaped hypoplastic distal ulna and radius
  38. 38.  Short stature, thought to be caused by a disruption in the programmed maturation of the chondrocyte at the level of the growth plate ,is a common feature in all types of MPS, although it may be mild or under-recognized in the attenuated forms.
  39. 39.  Joint stiffness and contractures:  Joint stiffness and contractures can be found in all types of MPS, except for MPS IV (Morquio syndrome) and MPS IX .  These abnormalities are felt to arise secondary to infiltration by GAGs of the ligaments, tendons, joint capsules and other soft tissues in combination with epiphyseal and metaphyseal deformities owing to defective skeletal remodelling.
  40. 40.  In contrast to patients with inflammatory arthritis, patients with MPS are more likely to have DIP joint involvement rather than PIP or MCP joint involvement.
  41. 41.  CTS is uncommon in childhood and its occurrence in a paediatric patient should prompt the physician to consider the possibility of an MPS, which accounts for more than one-half of the cases in this age group..  The median nerve compression occurs as a result of thickening of the flexor retinaculum and the tissues around the tendon sheaths.
  42. 42.  Trigger fingers in association with CTS are well recognized in patients with MPS . Triggering occurs as a result of GAG deposits in the capsular tissues of the joints or flexor tendons .
  43. 43.  The functionality of the fingers is compromised because of the bone alterations and the thickening of the subcutaneous tissues, resulting in a failure of a complete extension of the fingers with a “claw hand ” deformity.
  44. 44. Mild flexion contractures of the fingers in Hurler Scheie syndrome.
  45. 45.  Joint stiffness is characteristic of most types of MPS; however, joint hypermobility is seen in the majority of patients with Morquio syndrome (MPS IV) . The hypermobility results from metaphyseal deformities, hypoplasia of the bones and degradation of connective tissues around the joint.  The combination of joint hypermobility and odontoid hypoplasia in these patients is thought to be responsible for the very high incidence of atlanto-axial subluxation.
  46. 46.  The most important otorhinolaryngological problems are rhinitis, otitis media, and upper and lower airway obstruction.
  47. 47. Thickened tympanic membrane Opacification of mastoid and middle ear cavity Poor pneumatization of sphenoidal bone
  48. 48. Flattened and deformed mandibular condyles Poor pneumatization of mastoid sinus cavities and impacted teeth
  49. 49.  The pathological accumulation of mucopolysaccharides within perivascular spaces and neuroaxonal units adversely affect the myelin turnover in our CNS.
  50. 50.  Diffuse white matter lesions usually show a symmetrical periventricular distribution may represent gliosis as the age increases.  Focal white matter lesions consist of multiple small spot-like areas isointense to the cerebrospinal fluid (CSF) on fluid attenuated inversion recovery (FLAIR), T2-weighted and T1- weighted sequences because of perivascular space enlargement.
  51. 51.  The corpus callosum, best depicted on sagittal images, is sometimes the only location of these lesions.  A typical imaging feature in the brain of patients with MPS is the “honeycomb-like” appearance in the basal ganglia and thalami.
  52. 52.  first concerns the accumulation of GAGs in neurons and astrocytes, leading to neuronal loss and demyelination  another theory maintains that the basal ganglia appearance could be related to an increase of fluid content in the periventricular spaces.
  53. 53.  The pathogenesis of enlargement of perivascular spaces is not entirely clear .  Two main hypotheses have been formulated: accumulation of GAG around vessels and impairment of cerebrospinal fluid reabsorption (caused by the deposit of mucopolysaccharides in the leptomeninges).
  54. 54. In a 12 year old patient ,brain show symmetrically diffuse increased signal intensity of periventricular white matter, with enlargement of subarachnoid spaces in the middle cranial fossa and ventriculomegaly. Midsagittal T2-weighted scan shows dilated perivascular spaces within the corpus callosum
  55. 55. in a 15 year old patient,,Cribriform focal lesions of periventricular white matter—due to enlarged perivascular spaces—with ventricular enlargement. White matter lesions in the corpuscallosum are well depicted by the mid-sagittal T2-weighted image.
  56. 56. In a 17 year old patient, symmetrical focal areas of hyperintensity in the lenticular nucleus (black arrow)and in the thalamus (black arrowhead) because of enlarged perivascular spaces called as HONEY COMBING . PERIVENTRICULAR WHITE MATTER CHANGES IN THE SAME PATIENT.
  57. 57. BRAIN ATROPHY SEEN IN 17 YEAR OLD MALE PATIENT.
  58. 58.  Compression of the spinal cord most frequently occurs at the atlanto-axial (C1-C2) joint especially affecting patients with MPS IV and VI.  The most important one is atlanto-axial subluxation, which is the result of several causes: laxity of the transverse ligament, dural thickening resulting from deposition of collagen and GAGs, hypoplasia or absence of the odontoid, anterior soft tissue mass of the odontoid (representing a combination of unossified fibrocartilage and reactive changes) and indentation of the posterior arch of C1.
  59. 59.  Chronic subluxation of the C1-C2 level may lead to a ligamentous hypertrophy and to further narrowing in the region of the craniocervical junction with the consequence of additional cord compression.
  60. 60. Sagittal T2-weighted at the craniocervical Junction in a patient affected by MPSVI before(b)and after(d) the Decompressive surgical procedure. T2 hypointense lesion surrounding the Odontoid process (white arrowhead,b)with marked narrowing of the foramen magnum and cord compression; the stenosis improved moderately after surgery. Note also the abnormal J-shaped Sella (white arrow).
  61. 61.  Orbital abnormalities can be found:  Thickening of the sclera and of the optic nerve sheath, optic canal narrowing and optic nerve atrophy.
  62. 62.  Another imaging feature reported in literature is the closed encephalocele ; regarding this point, the presence of parenchymal/meningeal herniation at the level of the anterior or middle cranial fossa has been described as a characteristic neuroradiological feature of patients affected by MPS II.
  63. 63.  The term “closed cephalocele” has been proposed to describe this skull abnormality because the protrusion of intracranial structures occurs without a detectable bone defect.  CT and MRI reveal a variable sized pouch filled with brain parenchyma and cerebrospinal fluid, delimited by a bone wall and usually located in the anterior cranial fossa at the level of the lamina cribrosa as a weak area of the skull.
  64. 64.  In Hurler syndrome, the diagnosis is made between 6-24 months in the presence of hepatosplenomegaly, skeletal deformity, coarse facial features, corneal clouding, joint stiffness, and short stature. Hearing loss is common and developmental delay, with moderate mental retardation, is present.
  65. 65.  Morquio syndrome, on the other hand, is characterized by short-trunk dwarfism, corneal deposits, skeletal dysplasia, and preservation of intelligence. Extraskeletal manifestations may include hepatomegaly, cardiac valvular lesions, and small teeth with caries formation.
  66. 66.  Normal variant.  Optic chiasm glioma– if chiasmatic sulcus very depressed (W- or omega-shaped sella).  Neurofibromatosis.  Achondroplasia.
  67. 67.  Chronic hydrocephalus– enlarged anterior aspect of third ventricle.  Hajdu-Cheney syndrome: Rare disorder of bone metabolism. The diagnosis is made by finding acroosteolysis with any three of the following: Wormian bones, open skull sutures, platybasia, micrognathia, mid-facial flattening, premature loss of teeth, coarse hair, and short stature.
  68. 68.  Congenital hydrocephalus  hydranencephaly:  subdural fluid collection  neurofibromatosis type 1  Achondroplasia  Thanatophoric dysplasia  Metabolic storage diseases, e.g. Mucopolysaccharidoses.  Alexander disease  Gorlin-Goltz syndrome  Canavan disease
  69. 69. 1. Normal variant. 2. Prolonged phenytoin treatment. 3. Microcephaly. 4. Shunted hydrocephalus. 5. Acromegaly. 6. Extramedullary haemopoiesis.
  70. 70.  Congenital  Os odontoideum  Down syndrome (20%)  Morquio syndrome  spondyloepiphyseal dysplasia  Osteogenesis imperfecta  Marfan disease  neurofibromatosis type 1 (NF1)  Arthritis.
  71. 71.  Normal Variant in Child (Mimic)  Osteonecrosis  Legg-Calve-Perthes (LCP) disease.  Juvenile Idiopathic Arthritis  Rickets  Hypothyroidism  Spondyloepiphyseal Dysplasia  Acromegaly  Trisomy 18  Down Syndrome (Trisomy 21)
  72. 72. RICKETS
  73. 73.  Achondroplasia  Mucopolysaccharidoses  Thanatophoric Dwarfism  Cleidocranial Dysplasia  Chondroectodermal Dysplasia  Camptomelic Dysplasia  Achondrogenesis
  74. 74. Shortening of the long bones, squared iliac bones with flat acetabula, and lack of the normal progressive widening of the interpediculate distances in the lumbar spine.
  75. 75.  Camptodactyly  Diabetic cheiroarthropathy
  76. 76.  Camptodactyly, classically defined as flexion deformities of the PIP joints , is similar to inflammatory arthritis in that it preferentially affects the PIP and MCP joints rather than the DIP joints. The fifth finger is most commonly affected in camptodactyly, whereas MPS tends to affect all fingers in addition to other joints.
  77. 77.  Diabetic cheiroarthropathy, previously described as stiff-hand syndrome or pseudoscleroderma , is a condition usually associated with type 1 diabetes.  Diabetic cheiroarthropathy commonly affects the PIP joints of the fourth and fifth fingers, although the other fingers and small joints of the hands often become affected over time .  Skin tightening and thickening accompany the contractures and resemble the skin changes of scleroderma.
  78. 78. Periarticular osteopenia, joint space narrowing of the IP joints and intercarpal joints, erosive changes of the second and third PIP joints bilaterally.
  79. 79.  Knowledge of radiological and neuroradiological appearances of MPS is essential for radiologists. Skeletal X-ray and MRI may show specific features in MPS patients, although it is not possible to accurately differentiate between MPS types based on skeletal and neurological characteristics.  The evaluation of the imaging findings is useful for suggesting and supporting MPS as a possible diagnosis, usually obtained by laboratory analysis, for monitoring the chronic and progressive course of the disease, for surgical and medical planning and for assessing the impact of therapy.

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