A case presented in Medicine Grand Round in BSMMU on 2nd June, 2013 by Dr. Suman Kanti Chowdhury (FCPS course student)

1. A 37-year-old man with bow-leg &
kyphoscoliosis
Presenter
Dr. Suman Kanti Chowdhury
FCPS course student
Department of Endocrinology

2. Particulars of the patient
• 37-year
• Male
• Unmarried

3. Chief complaints
• Pain in lower limb with difficulty in walking &
progressive loss of height for last 11 years
• Progressive chest deformity for last 6 years
• Bowing of both legs & shortness of breath for last 1
year

4. H/O presenting complaints:
• Bony pain
– Started 11 years back
– 1st
felt stress pain in right foot during walking & relieved
after rest, included left foot 1 & ½ months later
– Extended progressively at both ankle, leg, knee, thigh &
finally at lower back region with increasing severity
– Felt only immediately after start to walk & relieved at rest

5. H/O presenting complaints: cont…
– For last 7 years, cant walk un-aided & cant
stand from squatting position & climb up
stairs
– No H/O joint swelling or morning stiffness
or claudication distance

6. H/O presenting complaints: cont…
• Chest deformity
– 7 years back, developed progressive deformity
– associated pain over upper back of chest without
any radiation but good response to painkiller
• Exertional dyspnoea
– For last 1 year, developed exertional dyspnoea
– felt after walking around 15 minutes with cratch
without any central chest pain, orthopnoea,
cough or hemoptysis

7. H/O presenting complaints: cont…
• Bowing of both legs
– for last 1 year
• Loss of height
– Within this 11 years, lost 28 cm of his height
• Weight loss
– Within this 11 years, 20.5 kg of his weight

8. H/O presenting complaints: cont…
• No H/O
– generalized swelling, change in urine volume or
prolong fever,
– Steatorrhoea , lacking of sunlight exposure,
– not used to take Aluminium containing drugs, long
time anticonvulsant therapy & fluoride containing
water before this illness

9. • H/O past illness – nothing significant
• Family history – 1 brother & 1 sister, mother is alive,
father died of CVD
• Social history - average diet pertaining to lower
middle class with adequate intake of calcium & vit D.

10. Drug history
Name Dose Frequency Duration
Cap rocaltrol (Calcitriol) 0.25 µg 12 hourly For 1-2 month infrequently
Calcium & vit D 500 mg
calcium+ Vit D
1 tab 12
hourly
From 2006-2013
Tab salazine (sulfsalazine) 500 mg 12 hourly For 2 months at 2003
Tab Nodia (leflunomide) 10 mg 2 tab daily From 22.4.2006 for 1 & ½
years
Tab alendronate 70 mg weekly For 2 months at 2006
Cap Bonviva (Ibandronate) 150 mg 1 cap monthly From 30.5.2007 for 6
months
Tab Risefos (risedronate) 35mg weekly From dec,2007 for 2 years
Inj Arachitol (cholecalciferol) 6 lakh unit weekly From 26.12.2007-27.9.2008
Minirin spray (calcitonin) 200 U
intranasaly
Daily For 8 months at march,07

11. General exam
Pulse – 76/min, peripheral pulses - intact
BP – 120/80 mm of Hg
Temp-normal,
RR- 18/min
Cyanosis-absent
Weight- 38.5 kg, Height - 140 cm, BMI - 19.64.
No lymphadenopathy, thyroid-not palpable.

12. Musculoskeletal examination
Kyphoscoliosis of dorsal spine, lumber lordosis
Genu varus deformity,
Planter arch- Right flat foot, Left foot arch-height reduced,
No joint swelling or deformity
True leg length- 68cm(right), 69cm(left)
Apparent leg length- 85cm(right), 86cm(left)

13. Gait- cant walk without aid
Arm-
muscle wasting present, movement not restricted,
No joint swelling or deformity
Spine-
movement restriction in dorsal & lumber spine due to
deformity
Leg-
muscle wasting present, movement not restricted, No
joint swelling.

14. • Respiratory system examination:
Kyphoscoliosis of D/S, expansion- 5 cm,
Ant-post -19 cm, Transverse - 28 cm
Percussion – resonant, vocal resonant-normal,
vesicular breath sound, no added sound
• Nervous system examination:
Muscle power- 4/5 over lower limbs,
Muscle bulk-reduced, Muscle tone, Jerks- normal.
Planter - flexor B/L, Sensory, cerebellar function-normal.
cranial nerves- intact, Fundoscopy - Normal

15. Past
Photographs were used with permission of the patient

16. Present
Photographs were used with permission of the patient

17. Chest deformity
Photographs were used with permission of the patient

18. Bow leg and flat feet
Photographs were used with permission of the patient

19. Provisional diagnosis
Osteomalacia due to-
Vit D – resistant rickets type I
Vit D – resistant rickets type II
Hypophosphataemic rickets
Hypophosphatasia

20. Investigations
• CBC (18.5.13):
Hb - 14.2 gm/dl, ESR – 5 mm in 1st
hour,
WBC – 5000/cmm, platelet- 2,70,000/cmm,
N-53%, L-40%, M-5%, E-2%.
• Urine R/E (18.5.13)– normal.

21. Investigations
Investigat
ion
18.5.2013 26.9.2012 17.7.7 26.12.2007 27.9.2008 23.10.2007
S Ca 7.8 mg/dl 9.2 mg/dl 8.4 mg/dl
(8.5-10.5)
PTH 124 pg/ml
(15-68
pg/ml)
148 pg/ml
(11-67
pg/ml)
S. PO4 2 mg/dl 1.1 mg/dl 0.9 mg/dl
(2.5-4.5
mg/dl)
S ALP 334 U/L
(50-
136U/L)
415 U/L
(38-126
U/L)
455 U/L
(32-92)
1.25(OH)2
D3
34.5 pg/ml
(29.6-65.1
pg/ml)
64 pg/ml
(19.6-54.3
pg/ml)

22. Investigations
Investigation 18.5.2013 26.9.2012 17.7.7 8.1.2008
24 hr urinary ca 32.4 mg/day
(100-300
mg/day)
24 hr urinary
PO4
236.72 mg/dl
(400-1300
mg/day)
S. electrolyte Na-138, K-4.1,
Cl-105, Co2-26
mmol/l
S. creatinine 0.6 mg/dl 0.5 mg/dl
S. magnesium 2.2 mg/dl
(1.8-2.5 mg/dl)
s. albumin 37 gm/l

23. Investigations
Investigation 2.2.04 4.2.2004 13.2.2006
SGPT 36 U/L
SGOT 25
S bilirubin 0.47 mg/dl
Bld urea 18 mg/dl
S uric acid 3.6 mg/dl
RA test Negative Negative
ANA Negative
CRP Negative Negative

24. Investigations
Investigation 1.12.2005 13.2.2006 18.5.2013
TSH 1.44 µIU/mL
(0 .27- 4.2
µIU/mL)
FT4 1.05 ng/dl
(0.8-1.9 ng/dl)
CPK 75.6 U/L
(24-190 U/L)
RBS 4 mmol/L

25. Investigations
• X-ray of pelvis : (21.5.13)
Pelvis is deformed. Both the hip joints are protruded
medially into the pelvis cavity. Multiple fractures are
seen at both rami of both pubis & both femoral neck
with superior displacement at both greater
trochanter.
• X-ray of both knee – lat view: (21.5.13)
Bone density is reduced. visible joints appear normal.
Evidence of muscular atrophy is seen.

26. Investigations
• X-ray of both legs with ankle joints: (26.5.13)
Osteopenia with old fracture of left fibula & lower end
of both tibia.
• CXR P/A view: (26.5.13)
Multiple ribs fractures at right 2nd
,6th
,7th
& left 2nd
,7th
,9th
&
10th
ribs.
• X-ray of both hands: (26.5.13)
Osteopenia with multiple fractures at right 1st
& 2nd
metacarpal bones.

27. Investigations
• X-ray dorso-lumber spine (B/V): (18.5.13)
Compression collapse at multiple dorsal vertebrae.
• Xray Lumbo-sacral spine(B/V): (18.5.13)
Collapse of L2,L3 & L4 & deformed sacrum.
Xray skull (lat view): (18.5.13)
Normal.
Xray KUB region: (18.5.13)
Normal.

36. • USG of neck (26.9.2012) :
Slightly hypoechoic right inferior parathyroid gland.
• Nerve conduction study upper & lower limbs
(2.2.2004) – normal.
• BMD (22.10.2007)– T score -2.8, Z score – 2.3.
• Spirometry: (27.5.13) Severe restrictive abnormality.
Pred. Best % Pred
FVC (L) 2.65 0.96 36
FEV1 (L) 2.36 0.90 38
FEV1/FVC
(%)
80.2 93.7 116.9
PEF (L/sec) 7.01 2.49 35.5

37. Problem list:
• Diagnostic dilemma
• Future management plan

38. Thank you