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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.
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- 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
- 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 .
- 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 .
- 33. Thank you