This document describes the case of a 1-year-old male patient who presented with recurrent fractures of both femurs and tibias without any history of trauma. On examination, he had frontal bossing, wide-opened fontanelles, and other signs of rickets including bowed legs and widened wrists. Laboratory results found hypocalcemia, hypophosphatemia, and elevated alkaline phosphatase and PTH levels despite normal vitamin D levels. Based on these findings, the final diagnosis was vitamin D-dependent or vitamin D-deficient rickets.

1. By
Dr / Mohamed Hosni Abdelalim
MBBCH
Egyptian board of pediatrics

2. History

3. Personal history
Male patient Islam Said Shawky aged 1
year from Benha .
Complain
Recurrent multiple bone fractures .

4. Present History :
• The condition started 2 months ago with left
thigh pain and swelling with limitation of
movement without history of trauma . His
mother thought medical advice from
orthopedic surgeon asked her for X-ray on LT
thigh revealed fracture of left femur then
reduced and fixed with cast .
.

5. • 25 days later another swelling in
LT leg with pain and limitation of
movement without history of
trauma , again mother SMA from
orthopedic surgeon asked for X-
ray on LT leg revealed LT tibial
fracture then reduction and
fixation with cast done .

6. • The day before admission another
swelling in RT thigh with pain and
swelling with limitation of movement
X-ray done showed RT femur fracture
then reduction and fixation done .
• Then the mother thought medical
advice at BENCH ER and admitted to
ward for investigation .

7. Other systems manifestatons :
• There is no history suggesting CNS
affection e.g. convulsions or Dcl or
head trauma or CNS infection e.g.
fever convulsions or neck rigidity .
• No history suggesting recurrent chest
infections e.g. fever cough or dyspnea
or recurrent hospitalization for chest
problems .

8. • No history suggesting endocrinal
disorders e.g.,,polyurea , elevated
random blood sugar .
• No history suggesting chronic liver
disease e.g. jaundice ,ascitis ,
prolonged bleeding or edema.
• No history suggesting chronic renal
disease e.g. polyurea
,oliguria,hematuria or uremic
manifestations .

9. • No history suggesting
malabsroption e.g. prolonged
diarrohed .

10. Past history :
No past history of hospitalization or
operations or drug intake or blood
transfusion.
Perinatal history
No history of maternal disease or drug intake
or radiation during pregnancy. Delivery at 39
wk of pregnancy at hospital , CS without any
complications . No history of delayed 1st cry
,cyanosis , convulsions , no history of NICU
admission .

11. Developmental history :
No history suggesting delayed motor or mental
milestones . Head support at age of 3 months ,
sitting at 8 months without support , crawling
at age of 10 months , as regard to mental
milestones mother recognition at age of 4
months , father recognition at 9 months ,
speech including one word till now .

12. Dietetic history :
The child is breast fed exclusively in the 1st 4
months with significant weight gain .Weaning
delayed to age of 8 months . With no Vit D
supplementation .
Vaccination history :
The child received all vaccinations at proper
time uptill now .

13. Family history :
Male patient 1 year age , 1 st sibling of 3rd
degree consanguinity , with no other siblings ,
with no family history of similar conditions .

14. Examination

15. General examination :
Pt is alert conscious , no pallor ,cyanosis or
jaundice.
Vital signs : Bp 95 /54 , Temp 37 axillary ,
pulse 114 / min average force and volume
and equal on both sides with no special
character ,RR 25 /min .
Anthropometric measures : weight 6,2 kg
below 3rd percentile , length 72 cm below
25th percentile , head circumference 46
cm above 50th percentile .

16. Head examination : showed square
head with delayed teething frontal
bossing and wide opened ant
fontanelle about 2,5 finger . No blue
sclera . No alopecia .
limbs : cast on Rt thigh and Rt leg ,
broadening of RT and LT wrist joint .

17. Local examination :
CNS : No hypertonia or hypotonia or
hyperreflexia or hyporeflexia or
signs of increased intracranial
tension or meningeal irritation .
CVS :
S1 + S2 with no murmur.

18. Abdomen : no organomegally or
superficial or deep masses felt , no
abnormal finding as regard to back
and genitalia .
Chest : pigeon shaped chest ,
thickening at costochondral
junctions , no clicks or fractures
felt by palpation , fair equal
bilateral air entry with no
adventitious sound .

19. Clinical diagnosis :
1- Child abuse .
2- Osteogenesis imperfecta.
3- Hyperparathyroidism .
4- Rickets .

20. Investigations

21. Labs :
On admission
1. CBC : TLC 6,4 lymph 50 % , Gran 50% Hb
10,7 / Hct 30.9 PLT 214 …. Crp : 3
2. Chemistry and electrolytes:
Na : 138 K: 3,8 urea : 4,5 creat : 0,2 ALT : 17
AST : 45 .
Ca : total 7,5 ionized 1,2 phosphorous : 2.1
ALP : 1700 PTH level : 670,7
25 OH vit D : 47,65 1,25 vit D : 51,03

22. Radiology :
Skeletal survey

25. Abdominal and pelvic US : free .
Cranial US : free .
CT brain : free .

26. Summary

27. A case of male patient one year 1st sibling of
consanguineous marriage with history of
multiple bone fractures , frontal bossing , wide
opened ant fontanelle , pigeon shaped chest ,
rachitic rosaries , widening of both wrists with
hypocalcaemia , hypophosphatemia , both
improved on active vit D and calcium
supplementation , elevated alkaline phosphates
level , elevated parathyroid level , with normal
vit D serum level .

28. Differential Diagnosis Of
rickets

30. Final diagnosis :
Male Pt 1 year , 1st sibling of
consanguineous marriage with
multiple bone fractures , most
probably vit D dependant or vit D
deficient rickets .

31. Treatment of rickets

33. Thank you