Intracerebral calcification in a child with 22q11 deletion syndrome.

A patient with a 22 q11 deletion was referred to our service. She had speech delay, mild learning difficulties and had an atrial septal defect repaired as an infant. As a result of minor head injuries sustained whilst resident in the USA she had two CT scans performed a year apart which revealed areas of progressive intracranial calcification, in the right frontal lobe and the basal ganglia. A more recent follow up CT scan showed enlargement of the lesions giving further evidence of progressive calcification. The changes could not be seen on MRI scan. She was not epileptic and an EEG was normal. Blood tests revealed a low plasma calcium level, low parathyroid hormone and raised inorganic phosphate demonstrating mild hypoparathyroidism although these measurements have been within the normal range on other occasions. It is thought that these deposits are secondary to this patient's dysregulation of calcium metabolism. It is follows that the deposits may have some impact on her overall learning difficulties and speech delay. It is unclear what the whether treating her hypocalcemia will prevent further progression of the lesions or have any impact on development. We suspect that intracranial calcification in 22q 11 deletion syndrome is underreported, as many of these patients never have a skull X-ray or cranial CT scan. It may also be a potentially treatable cause of aspects of the learning difficulties identified in 22q 11 deletion syndrome. [ABSTRACT FROM AUTHOR]