Peroxisomal Biogenesis Disorder: Comparison of Conventional MR Imaging with Diffusion-Weighted and Diffusion-Tensor Imaging Findings

Birgitta S. M. ter Rahe; Charles B. L. M. Majoie; Erik M. Akkerman; Gerard J. den Heeten; Bwee T. Poll-The; Peter G. Barth

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Fig 1.
MR images obtained in a 12-month-old boy with biopsy-proved PBD-PTS1 (A-D) and in an age-matched girl with mental retardation (E and F).
A and B, Axial fast spin-echo T2-weighted images (3500/90/1 [TR/TE/NEX]) obtained in a 12-month-old boy, showing diffuse signal intensity increase in the white matter on the level of the anterior limb and genu of the internal capsules and the corona radiata bilaterally, which is consistent with hypomyelination. Posterior limbs of the bilateral internal capsules show hypomyelination. Cortical dysplasia along the border of the right sylvian fissure is present, as can be seen in PBDs (arrows).
C and D, Color-coded FA maps, demonstrating decreased anisotropy in the white matter at the same levels in this patient as those in the control subject (E and F).
E and F, Color-coded FA maps of the age-matched control subject of the corresponding levels as in panels C and D.
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Fig 2.
Images obtained in a 16-month-old girl with biopsy-proved PBD-PTS1 (A–D) and a control subject, an age-matched boy with mental retardation (E and F).
A and B, Axial fast spin-echo T2-weightedimages (3500/90/1), showing high signal intensity in the parietal white matter bilaterally, but normal signal intensity in the bilateral internal capsules, the corpus callosum, and the corona radiata bilaterally.
C and D, Color-coded FA maps, demonstrating decreased anisotropy in the NAWM and abnormal-appearing white matter at the same levels as A and B, as compared with findings in the control subjects (E and F).
E and F, Color-coded FA maps of the age-matched control of the corresponding areas to C and D.

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TABLE 1:

FA values in three patients with PBD and age-matched control subjects

FA values × 10⁻³		12 Months					16 Months					80 Months
		Patient		Control		Diff.	Patient		Control		Diff.	Patient		Control		Diff.
		Mean (SD)	N	Mean (SD)	N	Diff.	Mean (SD)	N	Mean (SD)	N	Diff.	Mean (SD)	N	Mean (SD)	N	Diff.
White matter lateral to cerebellar	R	293 (45)	24	282 (36)	35	12	308 (46)	26	424 (47)	28	−116^‡	471 (66)	40	559 (74)	73	−88^‡
dentate nucleus	L	324 (43)	33	358 (68)	31	−34^*	303 (43)	29	410 (72)	31	−107^‡	461 (66)	57	490 (90)	56	−29^*
Cerebellar peduncle	R	660 (46)	12	814 (48)	12	−153^‡	753 (46)	12	788 (66)	12	−35	812 (59)	12	872 (42)	12	−60^†
	L	751 (80)	12	882 (26)	12	−130^‡	713 (67)	12	800 (48)	12	−86^†	595 (39)	12	849 (70)	12	−254^‡
Cerebral peduncle	R	526 (106)	39	677 (79)	15	−151^‡	584 (96)	46	608 (128)	35	−24	515 (90)	37	722 (125)	76	−207^‡
	L	591 (65)	26	585 (93)	34	6	608 (129)	37	642 (86)	34	−34	552 (77)	49	727 (84)	50	−175^‡
Optic radiation	R	364 (35)	12	562 (32)	12	−198^‡	507 (50)	12	599 (27)	12	−92^‡	605 (32)	12	625 (51)	12	−20
	L	455 (45)	12	520 (58)	12	−65^†	487 (27)	12	639 (74)	12	−152^‡	505 (65)	12	740 (93)	12	−235^‡
Genu of internal capsule	R	539 (32)	12	637 (79)	12	−98^‡	611 (37)	12	604 (41)	12	7	544 (31)	12	777 (53)	12	−233^‡
	L	561 (15)	12	582 (44)	12	−21	630 (39)	12	652 (69)	12	−22	658 (44)	12	809 (54)	12	−151^‡
Posterior limb of internal capsule	R	564 (99)	83	666 (97)	66	−102^‡	634 (144)	111	671 (117)	69	−37	613 (85)	124	734 (81)	79	−121^‡
	L	572 (88)	92	657 (79)	58	−85^‡	676 (101)	114	686 (75)	76	−10	663 (83)	107	747 (81)	98	−84^‡
Anterior limb of internal capsule	R	493 (75)	48	511 (87)	30	−18	476 (95)	57	547 (85)	38	−71^‡	487 (81)	42	676 (125)	39	−189^‡
	L	508 (113)	48	575 (68)	18	−67^*	508 (86)	62	599 (101)	33	−91^‡	556 (114)	79	594 (107)	41	−38
Genu of corpus callosum		599 (72)	12	732 (60)	12	−133^‡	544 (46)	12	908 (58)	12	−364^‡	532 (88)	12	779 (101)	12	−247^‡
Splenium of corpus callosum		532 (57)	12	523 (77)	12	9	695 (26)	12	893 (32)	12	−198^‡	618 (57)	12	608 (104)	12	10
Parietal corona radiata	R	207 (33)	51	247 (75)	51	−40^‡	237 (54)	51	301 (54)	51	−64^‡	240 (41)	51	270 (89)	51	−30^*
	L	162 (54)	51	199 (77)	51	−37^†	170 (41)	51	280 (57)	51	−110^‡	245 (59)	51	379 (77)	51	−134^‡
Frontal corona radiata	R	214 (31)	51	227 (54)	51	−13	232 (42)	51	327 (52)	51	−95^‡	362 (97)	51	423 (79)	51	−61^‡
	L	184 (71)	51	221 (78)	51	−37^*	252 (64)	51	249 (84)	51	3	339 (101)	51	403 (120)	51	−64^†
Centrum semiovale	R	317 (28)	51	427 (109)	51	−110^‡	432 (80)	51	465 (62)	51	−33^*	446 (150)	51	559 (76)	51	−113^‡
	L	318 (27)	51	407 (77)	51	−89^‡	388 (54)	51	526 (82)	51	−138^‡	442 (158)	51	507 (76)	51	−65^†

Note.—N indicates number of pixels per region of interest; significance determined with t test:
* P < .05;
† P < .01;
‡ P < .001.

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TABLE 2:

ADC values in three patients with PBD and age-matched controls

ADC values × 10⁻³ mm²/s		N	12 Months				16 Months				80 Months
			Patient	Control	Diff.	%	Patient	Control	Diff.	%	Patient	Control	Diff.	%
			Mean (SD)	Mean (SD)	Diff.	%	Mean (SD)	Mean (SD)	Diff.	%	Mean (SD)	Mean (SD)	Diff.	%
Genu of corpus callosum		12	111 (7)	107 (9)	4	4	98 (8)	75 (9)	22	30^‡	92 (10)	69 (5)	24	35^‡
Splenium of corpus callosum		12	115 (12)	122 (23)	−7	−6	98 (9)	83 (7)	15	18^‡	110 (10)	88 (16)	22	25^‡
Parietal corona radiata	R	51	131 (7)	106 (8)	25	24^‡	117 (5)	102 (8)	15	15^‡	102 (7)	93 (15)	8	9^‡
	L	51	137 (5)	108 (6)	30	28^‡	129 (7)	109 (4)	20	19^‡	94 (8)	91 (6)	2	3^*
Frontal corona radiata	R	51	127 (4)	105 (6)	23	22^‡	115 (6)	91 (5)	24	27^‡	94 (5)	73 (5)	20	28^‡
	L	51	124 (5)	110 (11)	14	13^‡	114 (5)	94 (4)	21	22^‡	92 (5)	84 (5)	8	10^‡
Centrum semiovale	R	51	131 (6)	95 (3)	35	37^‡	106 (5)	100 (5)	6	6^‡	100 (9)	84 (6)	16	20^‡
	L	51	141 (4)	94 (5)	47	49^‡	110 (4)	99 (5)	11	11^‡	95 (5)	91 (9)	4	4^†