3. Pain in the front of chest and lower back for 5
days
History of repeated fracture at multiple sites
from infancy
4. According to the statement of the patient he was
relatively alright up to last Sunday
When he was playing in school , he felt into ground &
felt pain in the front of the chest and lower back region
The pain was sharp catching localized in nature
aggravate in activity and relieved by rest .
5. According to the statement of his mother her baby
suffered from fracture in left lower forearm without any
trauma at the age of the 6 days .
Then he suffered from repeated fracture in multiple
sites over the next one year involving rt upper forearm ,
rt mid forearm & left upper thigh .
Last fracture occurred at the age of 2 year . in every
occasion he was treated with plaster immobilization .
6. His birth was uneventful through normal per vaginal
delivery .
He had normal weight gain throughout the childhood .
His appetite was normal , no history of altered bowel
habit.
He had no history of inadequate sun light exposure or
childhood abuse .
There was no history of abnormal dentations or hearing
difficulty.
7. He had 2 sisters , no one was suffering from such
disease .
No maternal and paternal uncles and aunts had suffered
from such illness .
8. Appearance – normal
Built – normal
Nutrition – average
Anaemia : absent
Jaundice : absent
Pulse : 84/ min
RR :16/min
Temp : 98.4 F
9. Height :128 cm
Weight : 43 kg
BMI : 25.84
Skin & nail : healthy
No lymph node palpable
No dental abnormality
10. There is deformity in rt arm .
No shortening of any limb
Tenderness over rt 5th
rib in mid clavicular line & over 2nd
lumber spine .
Gait –Normal
Leg - Normal
Spine – normal
Range of movement is normal in all joints
11. Higher cerebral function and memory normal
All cranial nerves are normal
No conductive or sensory neuronal deafness
Fundoscopy normal
Sensory and motor system intact .
Examination of other systems reveals no abnormality
13. Date Name of inv result
1 24/09/13 CBC Hb:12.1gm/dl , ESR :45 mm in 1st
hour
Tc:9000/cmm , N :65% ,L:29% ,Pl count
2,40,000/cmm
2 24/09/13 Urine RME Protein : nil, sugar: nil , Pus cell :3-6/HPF
,RBC: nil , epi cell : 3-5/HPF
3 24/09/13 RBS 4.4 mmol/L
4 24/09/13 S creatinine 0.6 mg/dl
5 24/09/13 S calcium 9.4 mg/dl
6 24/09/13 S alkaline
phosphatase
378 U/L (50 -135U/L)
7 24/09/13 S inorganic
phosphate
4.2 mg/dl
8 24/09/13 S albumin 45 gm/L
14. Date Name of inv result
9 24/09/13 Usg of whole abdomen normal
10 24/09/13 Chest X-ray PA view normal
11 24/09/13 X-ray lumbo sacral spine normal
12 24/09/13 S PTH Pending….
15. Date Name of inv result
1 27/12/05 CBC Hb:10.6gm/dl , ESR :25 mm in 1st
hour
Tc:10,500/cmm , N :50% ,L:45% ,Pl count
2,40,000/cmm
2 27/12/05 PBF Non specific
3 27/12/05 S bilirubin T .5mg/dl
4 27/12/05 S creatinine 0.8 mg/dl
5 27/12/05 S calcium 9.5 mg/dl
6 27/12/05 S inorganic
phosphate
5.1mg/dl
7 27/12/05 SGPT 22U/L
8 27/12/05 S electrolytes Na : 143 , k : 3.8 , cl :106 , Tco2 :24.50
16. Date Name of inv result
1 27/12/05 X-ray of both Wrist ,
elbow and forearm
Suggestive of Scurvy
2 16/06/11 X ray pelvis with both
hip A/P view
Femoral head & neck is wide,
osteopanic with thin outer cortex .
Sclerotic reaction is seen in
acetabulum mostly in upper part .
Suggestive of Osteogenesis
Imperfecta
17. What the actual diagnosis?
What should be the next management plan?
19. Recurrent fracture with any one of the following:
Blue sclerae
Dentinogenesis Imperfecta
Family H/O disease
20. No curative RX
Supportive treatment
Avoid contact sports
Sweeming
Physiotherapy
Psychological support
Surgery
Regular follow up