1. Vitamin D Deficiency and Fractures Bone Study Day, 28th September 2012
Dr. Zulf Mughal
Consultant in Paediatric Bone Disorders
Department of Paediatric Endocrinology
Royal Manchester Childrens Hospital
M13 9WL
Bone Study Day, 28th September 2012

2. Sue Reid 18th December 2011
Four-month-old baby with rickets 'was shaken to death‘
Brain damage so severe he was 'incompatible with life'
Staff at Great Ormond Street Hospital found multiple fractures
including to Jayden's arms, leg and skull. (He also has
Retinal Haemorrhages.)
Jayden had been born a normal baby when his mother was 16 and his father 19. On July 22, 2009, he was admitted as an emergency to University College Hospital and placed on life support. Within hours, Jayden's condition deteriorated and he was transferred to Great Ormond Street Hospital for Children. He did not survive. Jayden was found multiple fractures including to his arms, leg and skull. He has haemorrhaging in his retinas.
Professor Archibald Malcolm found that he had been suffering from rickets, which explained some of his fractures. However, fractures of Jayden's skull, humeri and femora had been caused by non-accidental injury.
“This horrific story unfolded over six weeks in a panelled courtroom of London’s Old Bailey. Yet today, Jayden’s father and mother — Rohan, 22, and 19-year-old Chana — are free. The case against them was thrown out ten days ago after 60 medical and forensic experts at their murder trial disagreed over what really killed their son.
Finally, the judge told the jury to find the couple not guilty because Jayden’s post-mortem revealed he had rickets, a serious childhood bone disease which had once been eradicated in this country nearly a century ago.”

3. LB of Islington v Al Alas and Wray [2012] EWHC 865 (Fam)
Jayden was an infant born to young parents of Afro-Caribbean origin
Mother not advised to take vitamin D supplements during pregnancy
He was breast fed from birth (no vitamin D supplement)
At age of 4½ months, referred to the University Collage Hospital,
London, with a history of:
Not crying or making any noise.
Not opening his mouth (tongue was stuck to the roof of the mouth).
Possibly having fits.
After admission he started to fit & his condition rapidly deteriorated.

4. LB of Islington v Al Alas and Wray [2012] EWHC 865 (Fam)
The radiologist at UCH had queried the possibility of a
metabolic bone disorder, such as rickets on CXR
Radiological investigations : multiple fractures, including
a fracture of the skull & subdural brain haemorrhages
Bilateral retinal haemorrhages.
Jayden died three days later on the PICU at GOSH.
Coroner's PM: Pathologist noted that Jayden had low
serum Ca & raised ALP. She also noted radiological
features of rickets. Histology showed florid rickets .

5. LB of Islington v Al Alas and Wray [2012] EWHC 865 (Fam)
At the conclusion of the hearing held before
Mrs Justice Theis, all allegations against Jayden’s
parents were found not proven.
Mrs Justice Theis concluded that Jayden’s fractures
could have been caused by the day to day handling,
due to fragility of Jayden's bones as a result of the
his severe vitamin D deficiency rickets.
However, she concluded that the subdural
haemorrhages were more likely to be caused by trauma.

6. LB of Islington v Al Alas and Wray [2012] EWHC 865 (Fam)
IMPLICATIONS
Jo Delahunty QC & Kate Purkiss

7. Severe Vitamin D Deficiency & Fractures

8. Rickets & Fractures

9. Novel inactivating mutations in the CYP27B1 gene
VDDR Type I
Ca 2.06 mmol/l
P 0.61 mmol/l (1.1 – 2.0)
ALP 4028 IU/l ( )
PTH 989 pg/ml ( )
25(OH)D 22 ng/ml
1,25(OH)2D 18 pg/ml ( )
Novel inactivating mutations in the CYP27B1 gene

10. Severe Vitamin D & Calcium Deficiency Rickets
Ca intake ~ 150 mg/day
Neglect ?
Ca: 1.80 mmol/l ( )
P: 0.76 mmol/l (1 – 1.8)
ALP:13,138 iu/l ( up to 600)
25(OH)D: 2.8 ng/ml ( )
PTH: 1,503 pg/ml ( )

11. Fractures in under-6-month-old exclusively breast-fed infants born to immigrant parents: nonaccidental injury?
S Senniappan, A Elazabi, I Doughty, M Z Mughal. Acta Paediatr. 2008; 97(7):836-7

12. A typical Instruction

13. Case of AR At the age of 9 weeks AR sustained a head injury HISTORY:
Mum giving a massage with Johnson’s baby oil.
AR slipped out of her hands and fell head first onto the living room floor.
Height of fall ~ 45 inches.
Communication problems – inconsistent history.
SKELETAL SURVEY:
A parietal fracture extending from ‘ear to ear’
Compression fractures of T2, T3, T4 & T5

14. Case of AR

15. Case of AR
Right
Left

16. Case of AR

17. Case of AR FINDING OF FACT HEARING: pregnancy.
Mum of Pakistani origin. Not prescribed vitamin D during
pregnancy.
AR born at term & exclusively breast-fed after birth.
He was not receiving vitamin D supplements.
November GP tested mum’s vitamin D status because of
H/O ‘aches & pains’. Her serum 25OHD 6 ng/ml. (AR’s serum
25OHD at presentation 13 ng/ml.)
FINDING OF FACT HEARING:
Was AR’s low serum 25OHD (& possibly maternal vitamin D
deficiency during pregnancy ) responsible/contributory factor
in causation of fractures?

18. 118 < 2 year old with fractures - 60% accidental, 31% non-accidental & 9%
indeterminate cause
39% were vitamin D deficient or insufficient
Vitamin D levels in those with accidental & non-accidental fractures not different.

19. Summary Subclinical vitamin D deficiency is very common.
Severe vitamin D deficiency is usually associated with elevated serum PTH concentrations.
Pathological fractures do occur in infants who suffer from severe vitamin D deficiency rickets.
There is no evidence that subclinical vitamin D deficiency causes fractures.

20. Vitamin D deficiency and Fractures
Position statement of the British Paediatric & Adolescent Bone Group
In the context of unexplained fractures in infancy
it is our opinion that unless there is radiological
evidence of rickets using conventional X-ray
techniques and biochemical evidence of rickets
(i.e. abnormal blood levels of calcium, phosphate,
alkaline phosphatase or parathyroid hormone)
that the level of 25 hydroxyvitamin D is not relevant
to the causation of the fractures.

21. Email: zulf.mughal@cmft.nhs.uk
Thank You