PMC7100656_01
Unenhanced CT (a, b) with marked brain volume loss and abnormal periventricular white-matter lucencies in a 6-year-old boy with familial HLH, seizures, and developmental delay (patient 6 in Table 2)
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Fig3
The most frequent findings were periventricular white-matter signal abnormalities with cerebral volume loss and enlargement of ventricles and extra-axial fluid spaces (6 patients); abnormal findings progressed in 3 patients, were stable in 1 and regressed in 2 (Fig. 3).
Axial (a) and sagittal (b) contrast-enhanced T1, axial T2 (c) brain MR images show multiple enhancing lesions of both cerebral hemispheres, the cerebellum and left pons with associated edema, and obstructive hydrocephalus in an 11-month-old girl. No infectious findings were seen at autopsy (patient 13 in Table 2)
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Fig4
Multiple enchancing bilateral hemispheric and posterior fossa lesions surrounded by edema in an 11-month old girl were later complicated by obstructive hydrocephalus and intra-axial hemorrhage (Fig. 4).
Unenhanced CT of the brain in a 12-day-old boy with altered consciousness and retinal hemorrhages. Edema, left hemispheric parenchymal, and extra-axial hemorrhage were later determined to be caused by left transverse sinus thrombosis (patient 19 in Table 2)
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Fig5
A 12-day-old boy with diminished level of consciousness and retinal hemorrhages had findings on initial head CT of left hemispheric parenchymal hemorrhage, edema, and extra-axial blood suspicious for nonaccidental trauma (Fig. 5); subsequent CT studies revealed a left transverse sinus thrombosis with gradual resolution of a hemorrhagic infarct.
PMC7100656_02
Chest radiograph in a 3-month-old girl in respiratory distress. Multiple healing rib fractures (6-8 on the left, 6-9 on the right) initially raised concern for nonaccidental trauma. Osteopenia and lucent metaphyses were evident on skeletal survey (patient 16 in Table 2)
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Fig6
A subsequent skeletal survey revealed diffuse osteopenia, diffuse metaphyseal lucencies, widened cranial sutures and hepatosplenomegaly, suggestive of pathologic fractures from metabolic disease (Fig. 6).