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Fig. 1 | Pediatric Rheumatology

Fig. 1

From: Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene

Fig. 1

Clinical findings. a Single-photon emission computed tomography (SPECT) of the brain at 5 years of age demonstrating speckled areas of reduced perfusion predominantly in the frontal, temporal and parietal regions of the right cortex as well as in parts of the basal ganglia consistent with cerebral vascular lesions. Radiographs of the left hand and knee taken at 4 (b, c) and 9 years of age (d, e), respectively, showing discrete metaphyseal irregularities. In addition, reduced mineralization of the lower extremities caused by impaired physical activity is seen at 9 years of age

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Pediatric Rheumatology

ISSN: 1546-0096