Does Vitamin D deficiency always mean Rickets?
I am 17yr old and I am unable to walk..not even stand.. i can't bear my own weight.
I was born normal from a 3rd degree consanguinous marriage. I was the first child for my parents I had two brothers. Both of them are completely normal. I used to walk normally like other kids.. I used to play.. my thighs started bending (bowing) slowly when I was 7. It gradually progressed and I developed knock knees for which I had surgery at the age of 10 yrs for my left leg and at the age of 12 yrs for my right leg (B/L supracondylar osteotomy) I was quite normal for about some time then again my thighs started bowing again. I started using stick at the age of 15, I always needed someone to hold me while I walk.. I had multiple fractures in my left lower leg with trivial trauma. But my right leg is normal.
On enquiry... there was anterolateral bowing and fracture of left femur after severe pain for about 3 days which was treated conservatively by applying POP and traction.
On examination
Height 146cm
Weight:35kg
Pt is appearing muscular but weight is not correlating with the body type.
Vitals:stable
Neurological examination
Bulk: equal on both sides but muscles are flabby.. there is pseudo hypertrophy
Tone: normal
Power: decreased in both upper and lower limbs
Reflexes:
Biceps: inversion of supinator is seen in right upper limb
(On doing biceps jerk, there is contraction of brachioradialis)
Triceps, supinator= normal
Knee jerk and ankle jerk are normal
B/L plantar extensor
Skeletal examination:
Axial skeleton: movements of spine are normal
Peripheral skeleton:
Shoulders, elbows, wrist joint movements are normal
Hip movements are limited
Knee joint movements: flexion is normal and extension is limited in both right and left knees
Dorsiflexion of right and left ankle are limited
USG showed Renal cortical cyst on right side.
1.8×2.2cm anechoic cystic lesion is noted in the midpole of right kidney.
Blood urea:12mg/dl (12-42)
serum creatinine: 0.7
Cortisol:8.24ug/dl (6.7-22.6)
Parathyroid harmone 12.5
Vit D:20.17ng/dl
deficiency <20
Insufficiency 20-30
Suffice 30-100
Potential intoxication >100
Serum Calcium 10.2 mg/dl
Serum phosphate 2.6 mg/dl
Alkaline phosphatase 1259 IU/L
PROVISIONAL DIAGNOSIS:
?RICKETS
?BLOUNT'S DISEASE
?OSTEOGENESIS IMPERFECTA
I was born normal from a 3rd degree consanguinous marriage. I was the first child for my parents I had two brothers. Both of them are completely normal. I used to walk normally like other kids.. I used to play.. my thighs started bending (bowing) slowly when I was 7. It gradually progressed and I developed knock knees for which I had surgery at the age of 10 yrs for my left leg and at the age of 12 yrs for my right leg (B/L supracondylar osteotomy) I was quite normal for about some time then again my thighs started bowing again. I started using stick at the age of 15, I always needed someone to hold me while I walk.. I had multiple fractures in my left lower leg with trivial trauma. But my right leg is normal.
On enquiry... there was anterolateral bowing and fracture of left femur after severe pain for about 3 days which was treated conservatively by applying POP and traction.
On examination
Height 146cm
Weight:35kg
Pt is appearing muscular but weight is not correlating with the body type.
Vitals:stable
Neurological examination
Bulk: equal on both sides but muscles are flabby.. there is pseudo hypertrophy
Tone: normal
Power: decreased in both upper and lower limbs
Reflexes:
Biceps: inversion of supinator is seen in right upper limb
(On doing biceps jerk, there is contraction of brachioradialis)
Triceps, supinator= normal
Knee jerk and ankle jerk are normal
B/L plantar extensor
Skeletal examination:
Axial skeleton: movements of spine are normal
Peripheral skeleton:
Shoulders, elbows, wrist joint movements are normal
Hip movements are limited
Knee joint movements: flexion is normal and extension is limited in both right and left knees
Dorsiflexion of right and left ankle are limited
USG showed Renal cortical cyst on right side.
1.8×2.2cm anechoic cystic lesion is noted in the midpole of right kidney.
Blood urea:12mg/dl (12-42)
serum creatinine: 0.7
Cortisol:8.24ug/dl (6.7-22.6)
Parathyroid harmone 12.5
Vit D:20.17ng/dl
deficiency <20
Insufficiency 20-30
Suffice 30-100
Potential intoxication >100
Serum Calcium 10.2 mg/dl
Serum phosphate 2.6 mg/dl
Alkaline phosphatase 1259 IU/L
AT THE AGE OF 7 YEARS WITH YOUNGER BROTHER |
AFTER SURGERY |
PROVISIONAL DIAGNOSIS:
?RICKETS
?BLOUNT'S DISEASE
?OSTEOGENESIS IMPERFECTA
Comments
Post a Comment