Dr. Sonjoy Dey Resident, Phase A (Hepatology)

Dr. Md. Zahidul Amin FCPS Student

Master P male 11 years From c

Pain in the front of chest and lower back for 5 days

History of repeated fracture at multiple sites from infancy

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 .

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 .

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.

He had 2 sisters , no one was suffering from such disease .

No maternal and paternal uncles and aunts had suffered from such illness .

Appearance – normal Built – normal Nutrition – average Anaemia : absent Jaundice : absent Pulse : 84/ min RR :16/min Temp : 98.4 F

Height :128 cm Weight : 43 kg BMI : 25.84

Skin & nail : healthy No lymph node palpable No dental abnormality

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

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

RicketsHyperparathyroidism Osteogenesis ImperfectaChildhood Paget’s disease

Date Name of inv result

1 24/09/13 CBC Hb:12.1gm/dl , ESR :45 mm in 1st hourTc: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

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….

Date Name of inv result

1 27/12/05 CBC Hb:10.6gm/dl , ESR :25 mm in 1st hourTc: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

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

What the actual diagnosis? What should be the next management plan?

Recurrent fracture with any one of the following: Blue sclerae

Dentinogenesis Imperfecta Family H/O disease

No curative RX Supportive treatment Avoid contact sports Sweeming Physiotherapy Psychological support Surgery Regular follow up

THANK YOU

Oral alendronate — The effect of daily oral alendronate (5 mg or 10 mg based on body weight: below or above 40 kg, respectively)