A 37-year-old man with bow-leg & kyphoscoliosis

A 37-year-old man with bow-leg & kyphoscoliosis

PresenterDr. Suman Kanti Chowdhury

FCPS course studentDepartment of Endocrinology

Particulars of the patient

• 37-year

• Male

• Unmarried

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

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

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

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

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

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

• 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.

Drug historyName 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

General examPulse – 76/min, peripheral pulses - intact BP – 120/80 mm of HgTemp-normal,RR- 18/minCyanosis-absent

Weight- 38.5 kg, Height - 140 cm, BMI - 19.64.No lymphadenopathy, thyroid-not palpable.

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)

Gait- cant walk without aidArm- muscle wasting present, movement not restricted,No joint swelling or deformitySpine-movement restriction in dorsal & lumber spine due to deformityLeg-muscle wasting present, movement not restricted, No joint swelling.

• 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

Past

Photographs were used with permission of the patient

Present

Photographs were used with permission of the patient

Chest deformity

Photographs were used with permission of the patient

Bow leg and flat feet

Photographs were used with permission of the patient

Provisional diagnosis

Osteomalacia due to-

Vit D – resistant rickets type IVit D – resistant rickets type IIHypophosphataemic ricketsHypophosphatasia

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.

InvestigationsInvestigation

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)2D3

34.5 pg/ml(29.6-65.1 pg/ml)

64 pg/ml(19.6-54.3 pg/ml)

InvestigationsInvestigation 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

InvestigationsInvestigation 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

InvestigationsInvestigation 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

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.

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.

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.

• 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

Problem list:

• Diagnostic dilemma

• Future management plan

Thank you