Table 1.

Summary of diagnostic outcomes after the analysis of 31 patients with WMAs.

Patient ID	Confirmed diagnosis	Radiologist 1 outcome	Radiologist 2 outcome
001	MELAS	TP	TP
002	Vanishing white matter disease	TP	TP
003	Phenylketonuria	TP	TP
004	Adrenomyeloneuropathy with adrenal insufficiency	TP	TP
005	Multiple sulfatase deficiency	TP	TP
006	Leigh syndrome	TP	TP
007	Fabry disease	TP	TP
008	Phenylketonuria	TP	TP
009	Neuronal ceroid lipofuscinosis	TP	TP
010	MELAS	TP	TP
011	5MTHFR deficiency	TP	TP
012	X-linked adrenoleukodystrophy	TP	TP
013	Fabry disease	TP	TP
014	Metachromatic leukodystrophy	TP	TP
015	MELAS	TP	TP
016	CADASIL	TP	TP
017	NARP-like mitochondrial disorder	TP	TP
018a	Coffin-Siris syndrome	TP	FN
019	Krabbe disease	TP	TP
020	48, XXXY syndrome	TP	TP
021	GMI gangliosidosis	TP	TP
022	NON-SPECIFIC	FP	FP
023	NON-SPECIFIC	TN	FP
024	NON-SPECIFIC	FP	FP
025	NON-SPECIFIC	FP	FP
026	NON-SPECIFIC	TN	TN
027	NON-SPECIFIC	TN	FP
028	NON-SPECIFIC	TN	FP
029	NON-SPECIFIC	FP	FP
030	NON-SPECIFIC	TN	FP
031	NON-SPECIFIC	FP	FP

Patients 001–021 have been diagnosed with a specific WMA and patients 022–031 have been non-specifically diagnosed (etiology unknown). Values shown include true positive (TP), true negative (TN), false positive (FP) and false negative (FN). Outcomes are presented by individual radiologist.

^aPatient 018 was excluded from the study and subsequent statistical analysis, thus altering the prevalence of a specific diagnosed condition to 66.7%.

CADASIL: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; ID: identification; MELAS: mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes; WMAs: white matter abnormalities.