Intracranial Calcification in Down Syndrome.

A 7-year-old girl was brought for the evaluation of cognitive and language delays. She was born to a cognitively normal 40-year-old mother by vaginal delivery at home. Her birth weight was 1000 g only, and she was hospitalized for 1 month. She denied any seizures, involuntary movements, or psychiatric symptoms other than being “moody” at times. On examination, she weighed 14 kg, and her height was 101 cm and head circumference was 45 cm. Physical examination revealed mongoloid facies and other characteristic physical findings of Down syndrome. Examination of lungs, heart, and abdomen was unremarkable. Neurological examination revealed only hypotonia.

Computed tomography (CT) of the brain showed brain parenchymal calcification involving bilateral globus pallidi [Figure 1] and head of right caudate nucleus [Figure 2]. Few specks of calcification were noted in gray–white matter border and white matter. Biochemistry revealed normal serum values for serum calcium, phosphorus, alkaline phosphatase, and parathyroid hormone. Chromosomal analysis showed trisomy 21 (47, XX +21).

Figure 1

Symmetrical hyperdensities (calcification) involving bilateral globus pallidi

Figure 2

Calcification of head of right caudate

Down syndrome is not recognized as a common cause of intracranial calcification,[1] even though it is a common finding on head CT, noted in 10.7%–26.7% cases of Down syndrome.[23] Calcification predominantly involves basal ganglia with globus pallidus being the most common structure affected. Occasional cases with neurological symptoms have been reported,[4] but generally, there are no symptoms attributable to calcification. The pathogenesis of calcification in Down syndrome is not known.

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