osteopetrosis,INTRODUCTION ,types,cloinical features radiological findings

1. OSTEOPETROSIS
BY –Dr. MADHAVAN

2. LESSON PLAN
• Name of the lecturer :Dr. MADHAVAN
• Date :18/06/2020
• Class: Orthopaedic postgraduates, interns and UG
students
• Number of students : 24
• Time :8mins
• Subject : Orthopaedics
• Topic :OSTEOPETROSIS

3. SPECIFIC LEARNING
OBJECTIVES
• Each Students should be able to
1. Describe the definition, etiology, pathogenesis, types and
clinical presentation of Osteopetrosis
2. Describe the modalities of investigations with its classical
radiological findings, management and complications of
Osteopetrosis
At the end of the class, With out mistakes

4. Sl
no
Content Method and
media
Time
taken
Evaluation
1 •EPIDEMIOLOGY
•AETIOLOGY
•PATHOGENESIS
Power point
presentation
3 Questions
and answers
2. •TYPES OF
OSTEOPETROSIS
•CLINICAL
FEATURES
Power point
presentation
2 Questions
and answers
3. TREATMENT
DIAGNOSIS
Power point
presentation
3 Questions
and answers
Assignment :All students should able to find the classical
radiological findings in Osteopetrosis

5. INTRODUCTION
• The term osteopetrosis is derived from the Greek ‘Osteo‘
means BONE and ‘Petros' means STONE.
• ‘Marble bone disease‘
• ‘Albers-Schönberg disease ‘
• After the German radiologist credited
with the first description of the condition
in 1904

6. EPIDEMIOLOGY
• Autosomal recessive : 1 in 250,000 births
• Autosomal dominant: 5 in 100,000 births
• Demographics genetic inheritance (3 types)
Malignant autosomal recessive
Benign autosomal
dominant (mostcommon)
Intermediate autosomal recessive

7. AETIOLOGY
• Mutations in the CLCN7 : 75% Autosomal
dominant osteopetrosis
• TCIRG1 gene mutations: 50% Autosomal
recessive(malignant) osteopetrosis.

8. • Mutations in any of the genes lead to abnormal or missing
osteoclasts.
• old bone is not broken down as new bone is formed.
• As a result, bones throughout the skeleton become
unusually dense which is hallmark finding in xrays.
PATHOGENESIS

9. leads to dense bone
• Osteoclast dysfunction
obliterated medullary canals
• Followed by osteoclast inability to acidify Howship's
lacuna

10. PREDISPOSITION TO
FRACTURE
lower extremity >
upper extremity >
axial skeleton
• Carpal tunnel syndrome

11. ASSOCIATED CONDITIONS
• Head
Cranial nerve palsies
Due to overgrowth of skull foramina
Optic n. > auditory n. > trigeminal n. > facial n

12. Spine:

13. • Pelvis: coxa vara
• Due to femoral neck fracture nonunion or
repeated stress fractures

14. MALIGNANT
AUTOSOMAL
RECESSIVE
Proton pump or
chloride channel
dysfunction
Fatal at an early
age without bone
marrow transplant
INTERMEDIATE
AUTOSOMAL
RECESSIVE
Carbonic
anhydrase II
dysfunction or
chloride
channel
dysfunction
usually live
into
adulthood
BENIGN
AUTOSOMAL
DOMINANT
Chloride channel
dysfunction
known as Albers-
Schonberg disease
general health, life
span, mental
function, and
physique are normal

21. TREATMENT
AUTOSOMAL
RECESSIVE
(INFANTILE-
MALIGNANT) FORM
• Bone marrow
transplant
• High dose calcitriol
(1,25 dihydroxy
vitamin D).
AUTOSOMAL
DOMINANT FORM
• Interferon gamma-
1beta
• Neurosurgical
decompression

22. FRACTURE MANAGEMENT
NON OPERATIVE
• Prolonged casting
and non-weight
bearing
OPERATIVE
• In Proximal femur
fractures
• Plate and screws
• Avoid intramedullary
devices

23. GENETIC COUNSELLING
• Osteopetrosis is a trait that can be inherited in an
autosomal dominant, autosomal recessive or X-linked
manner, and genetic counselling will depend on the
mode of inheritance for particular family and it is
must to educate the patient possibilities of future
offspring getting affected .

24. SUMMARY
• Osteopetrosis is disease of osteoclast dyfunction due
to gene mutation leading to abnormal bone density
and associated conditions like
• Cranial nerve palsy
• Recurrent infection
• Hepato-splenomegaly
• Loss of differentiation between the medullary and
cortical bone
• “sandwich vertebra”
• “bone-within-bone”
• Failure of remodeling- Erlenmeyer flask deformity
• Pathologic fractures
• GENETIC COUNSELING IS MUST

25. • Thank you