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A Child with Seizures

A 14 month old Asian child living in the UK presented to the emergency department following a 5 minute generalised, tonic-clonic seizure. By the time of arrival in hospital the seizure had stopped and although drowsy he seemed to be returning to normal. The child had been almost exclusively breast-fed until the age of 9 months but was now taking some solids (mainly rice). Examination found palpable swellings at the costochondral junctions and the child was found to be hypocalcaemic. An chest x-ray was taken to investigate the chest swellings.

The child's chest x-ray.

Q1. What abnormality does the chest x-ray show?

Q2. What is the underlying diagnosis?

The chest x-ray shows marked swelling of the costochondral junctions.

The chest x-ray appearance is typical of a rickety rosary (or rachitic rosary). The diagnosis is rickets (likely secondary to Vitamin D deficiency).

Vitamin D deficiency can lead to rickets which can present as hypocalcaemic seizures. Breast milk contains very little vitamin D and if the mother is vitamin D deficient there is poor materno-fetal transfer during pregnancy. Reduced sun exposure and darkly pigmented skin are additional risk factors. Bony changes such as swelling of the costochondral junctions, widening of the wrists, bowing of the legs, and softening of the skull are important features of rickets.

For further information see:

Holick MF, Lim R, Dighe AS. Case records of the Massachusetts General Hospital. Case 3-2009. A 9-month-old boy with seizures. N Engl J Med. 2009;360(4):398-407.

Ladhani S, et al. Presentation of vitamin D deficiency.. Arch Dis Child. 2004;89(8):581-4.

Robinson PD, et al. The re-emerging burden of rickets: a decade of experience from Sydney. Arch Dis Child. 2006;91(7):564-8.

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