nach oben

Neuroradiology

Erschienen in:

01.07.2007 | Paediatric Neuroradiology

Decreased T2 signal in the thalami may be a sign of lysosomal storage disease

verfasst von: Taina Autti, Raimo Joensuu, Laura Åberg

Erschienen in: Neuroradiology | Ausgabe 7/2007

Einloggen, um Zugang zu erhalten

Abstract

Introduction

Lysosomal disorders are rare and are caused by genetically transmitted lysosomal enzyme deficiencies. A decreased T2 signal in the thalamus has occasionally been reported.

Aims

Because the finding of bilateral abnormal signal intensity of the thalamus on T2-weighted images has not been systematically reviewed, and its value as a diagnostic tool critically evaluated, we carried out a systematic review of the literature.

Methods

Articles in English with 30 trios of keywords were collected from PubMed. Exclusion criteria were lack of conventional T2-weighted images in the protocol and not being a human study. Finally, 111 articles were included. The thalamus was considered affected only if mentioned in the text or in the figure legends.

Results

Some 117 patients with various lysosomal diseases and five patients with ceruloplasmin deficiency were reported to have a bilateral decrease in T2 signal intensity. At least one article reported a bilateral decrease in signal intensity of the thalami on T2-weighted images in association with GM1 and GM2 gangliosidosis and with Krabbe’s disease, aspartylglucosaminuria, mannosidosis, fucosidosis, and mucolipidosis IV. Furthermore, thalamic alteration was a consistent finding in several types of neuronal ceroid lipofuscinosis (NCL) including CLN1 (infantile NCL), CLN2 (classic late infantile NCL), CLN3 (juvenile NCL), CLN5 (Finnish variant late infantile NCL), and CLN7 (Turkish variant late infantile NCL).

Conclusion

A decrease in T2 signal intensity in the thalami seems to be a sign of lysosomal disease.

Agamanolis D (2005) Metabolic and toxic disorders. In: Prayson R, Goldblum J (eds) Neuropathology. Elsevier Churchill Livingstone, Philadelphia, pp 339–372

Pastores GM, Kolodny EH (2006) Lysosomal storage diseases. In: Swaiman KF, Ashwall S, Ferriero DM (eds) Pediatric neurology: principles and practice. Mosby Elsevier, Philadelphia, pp 659–714

Autti T, Raininko R, Vanhanen S-L, Kallio M, Santavuori P (1994) MRI of the normal brain from early childhood to middle age. I Appearances on T2- and proton density-weighted images and occurrence of incidental high-signal foci. Neuroradiology 36:644–648PubMedCrossRef

Autti T, Raininko R, Vanhanen S-L, Kallio M, Santavuori P (1994) MRI of the normal brain from early childhood to middle age. II. Age dependence of signal intensity changes on T2-weighted images. Neuroradiology 36:649–651PubMedCrossRef

Barkovich AJ (ed) (2005) Pediatric neuroimaging. Lippincott Williams & Wilkins, Philadelphia, pp 76–189

Morita H, Ikeda S, Yamamoto K et al (1995) Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family. Ann Neurol 37:646–656PubMedCrossRef

Hatanaka Y, Okano T, Oda K, Yamamoto K, Yoshida K (2003) Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene. Intern Med 42:599–604PubMed

Yonekawa M, Okabe T, Asamoto Y, Ohta M (1998) A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: administration of fresh-frozen human plasma. Eur Neurol 42:157–162CrossRef

Al-Essa MA, Bakheet SM, Patay ZJ, Nounou RM, Ozand PT (1999) Cerebral fuorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI, and clinical observations in a patient with infantile G(M1) gangliosidosis. Brain Dev 21:559–562PubMedCrossRef

10.

Chen CY, Zimmerman RA, Lee CC, Chen FH, Yuh YS, Hsiao HS (1998) Neuroimaging findings in late infantile GM1 gangliosidosis. AJNR Am J Neuroradiol 19:1628–1630PubMed

11.

Kobayashi O, Takashima S (1994) Thalamic hyperdensity on CT in infantile GM1-gangliosidosis. Brain Dev 16:472–474PubMedCrossRef

12.

Aydin K, Bakir B, Tatli B, Terzibasioglu E, Ozmen M (2005) Proton MR spectroscopy in three children with Tay-Sachs disease. Pediatr Radiol 35:1081–1085PubMedCrossRef

13.

Grosso S, Farnetani MA, Berardi R et al (2003) GM2 gangliosidosis variant B1 neuroradiological findings. J Neurol 250:17–21PubMedCrossRef

14.

Mugikura S, Takahashi S, Higano S, Kurihara N, Kon K, Sakamoto K (1996) MR findings in Tay-Sachs disease. J Comput Assist Tomogr 20:551–555PubMedCrossRef

15.

Yun YM, Lee SN (2005) A case report of Sandhoff disease. Korean J Ophthalmol 19:68–72PubMedCrossRef

16.

Yuksel A, Yalcinkaya C, Islak C, Gunduz E, Seven M (1999) Neuroimaging findings of four patients with Sandhoff disease. Pediatr Neurol 21:562–565PubMedCrossRef

17.

Hittmair K, Wimberger D, Bernert G, Mallek R, Schindler EG (1996) MRI in a case of Sandhoff’s disease. Neuroradiology 38 [Suppl 1]:S78–S80

18.

Caliskan M, Ozmen M, Beck M, Apak S (1993) Thalamic hyperdensity – is it a diagnostic marker for Sandhoff disease. Brain Dev 15:387–388PubMedCrossRef

19.

Koelfen W, Freund M, Jaschke W, Koenig S, Schultze C (1994) GM-2 gangliosidosis (Sandhoff’s disease): two year follow-up by MRI. Neuroradiology 36:152–154PubMedCrossRef

20.

Zafeiriou DI, Anastasiou AL, Michelakaki EM, Augoustidou-Savvopoulou PA, Katzos GS, Kontopoulos EE (1997) Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies. Brain Dev 19:488–491PubMedCrossRef

21.

Zafeiriou DI, Michelakaki EM, Anastasiou AL, Gombakis NP, Kontopoulos EE (1996) Serial MRI and neurophysiological studies in late-infantile Krabbe disease. Pediatr Neurol 15:240–244PubMedCrossRef

22.

Vanhanen SL, Raininko R, Santavuori P (1994) Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR. AJNR Am J Neuroradiol 15:1443–1453PubMed

23.

Bernardi B, Fonda C, Franzoni E, Marchiani V, Della Guistina E, Zimmerman RA (1994) MRI and CT in Krabbe’s disease: case report. Neuroradiology 36:477–479PubMedCrossRef

24.

Finelli DA, Tarr RW, Sawyer RN, Horwitz SJ (1994) Deceptively normal MR in early infantile Krabbe disease. AJNR Am J Neuroradiol 15:167–171PubMed

25.

Barone R, Bruhl K, Stoeter P, Fiumara A, Pavone L, Beck M (1996) Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease). Am J Med Genet 63:209–217PubMedCrossRef

26.

Percy AK, Odrezin GT, Knowles PD, Rouah E, Armstrong DD (1994) Globoid cell leukodystrophy: comparison of neuropathology with magnetic resonance imaging. Acta Neuropathol (Berl) 88:26–32CrossRef

27.

Autti T, Raininko R, Haltia M et al (1997) Aspartylglucosaminuria: radiologic course of the disease with histopathologic correlation. J Child Neurol 12:369–375PubMed

28.

Ara JR, Mayayo E, Marzo ME, Guelbenzu S, Chabas A, Pina MA, Calderon C (1999) Neurological impairment in alpha-mannosidosis: a longitudinal clinical and MRI study of a brother and sister. Childs Nerv Syst 15:369–371PubMedCrossRef

29.

Inui K, Akagi M, Nishigaki T, Muramatsu T, Tsukamoto H, Okada S (2000) A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings. Brain Dev 22:47–49PubMedCrossRef

30.

Autti T, Raininko R, Launes J, Nuutila A, Santavuori P (1992) Jansky-Bielschowsky variant disease: CT, MRI and SPECT findings. Pediatric Neurol 8:121–126CrossRef

31.

Vanhanen SL, Raininko R, Autti T, Santavuori P (1996) MRI evaluation of the brain in infantile neuronal ceroid lipofuscinosis. Part 2: MRI findings in 21 patients. J Child Neurol 10:444–450CrossRef

32.

Autti T, Raininko R, Vanhanen SL, Santavuori P (1996) MRI of neuronal ceroid lipofuscinosis. I. Cranial MRI of 30 patients with juvenile neuronal ceroidl lipofuscinosis. Neuroradiology 38:476–782PubMed

33.

Topçu M, Tan H, Yalnızoğlu D et al (2004) Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies. Turk J Pediatr 46:1–10PubMed

34.

Frei KP, Patronas NJ, Crutchfield KE. Altarescu G, Schiffmann R (1998) Mucolipidosis type IV: characteristic MRI findings. Neurology 51:565–569PubMed

35.

Inglese M, Nusbaum AO, Pastores GM, Gianutsos J, Kolodny EH, Gonen O (2005) MR imaging and proton spectroscopy of neural injury in late-onset GM2 gangliosidosis. AJNR Am J Neuroradiol 26:2037–2042PubMed

36.

Gururaj A, Sztriha L, Hertecant, J, Johansen JG, Georgiou T, Campos Y, Drousiotou A, d’Azzo A (2005) Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis. J Child Neurol 20:57–60PubMed

37.

Streifler JY, Gornish M, Hadar H, Gadoth N (1993) Brain imaging in late-onset GM2 gangliosidosis. Neurology 43:2055–2058PubMed

38.

Uyama E, Terasaki T, Watanabe S, Naito M, Owada M, Araki S, Ando M (1992) Type 3 GM1 gangliosidosis: characteristic MRI findings correlated with dystonia. Acta Neurol Scand 86:609–615PubMed

39.

Fukumizu M, Yoshikawa H, Takashima S, Sakuragawa N, Kurokawa T (1992) Tay-Sachs disease: progression of changes on neuroimaging in four cases. Neuroradiology 34:483–486PubMedCrossRef

40.

Seitz D, Grodd W, Schwab A, Seeger U, Klose U, Nagele T (1998) MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis. AJNR Am J Neuroradiol 19:1373–1377PubMed

41.

Choi S, Enzmann DR (1993) Infantile Krabbe disease: complementary CT and MR findings. AJNR Am J Neuroradiol 14:1164–1166PubMed

42.

Chang YC, Huang CC, Chen CY, Zimmerman RA (2000) MRI in acute neuropathic Gaucher’s disease. Neuroradiology 42:48–50PubMedCrossRef

43.

Moore DF, Ye F, Schiffmann R, Butman JA (2003) Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. AJNR Am J Neuroradiol 24:1096–1101PubMed

44.

Politei JM, Capizzano AA (2006) Magnetic resonance image findings in 5 young patients with Fabry disease. Neurologist 12:103–105PubMedCrossRef

45.

Gupta S, Ries M, Kotsopoulos S, Schiffmann R (2005) The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women. Medicine (Baltimore) 84:261–268CrossRef

46.

Takanashi J, Barkovich AJ, Dillon WP, Sherr EH, Hart KA, Packman S (2003) T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. AJNR Am J Neuroradiol 24:916–921PubMed

47.

Morse RP, Kleta R, Alroy J, Gahl WA (2005) Novel form of intermediate salla disease: clinical and neuroimaging features. J Child Neurol 20:814–816PubMedCrossRef

48.

Parazzini C, Arena S, Marchetti L et al (2003) Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features. AJNR Am J Neuroradiol 24:398–400PubMed

49.

Linnankivi T, Lonnqvist T, Autti T (2003) A case of Salla disease with involvement of the cerebellar white matter. Neuroradiology 45:107–109PubMed

50.

Sonninen P, Autti T, Varho T, Hamalainen M, Raininko R (1999) Brain involvement in Salla disease. AJNR Am J Neuroradiol 20:433–443PubMed

51.

Varho T, Jaaskelainen S, Tolonen U, Sonninen P, Vainionpaa L, Aula P, Sillanpaa M (2000) Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. Neurology 55:99–104PubMed

52.

Haataja L, Parkkola R, Sonninen P et al (1994) Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. Neuropediatrics 25:238–244PubMed

53.

Melis D, Parenti G, Della Casa R et al (2004) Brain damage in glycogen storage disease type I. J Pediatr 144:637–642PubMedCrossRef

54.

Gutschalk A, Harting I, Cantz M, Springer C, Rohrschneider K, Meinck HM (2004) Adult alpha-mannosidosis: clinical progression in the absence of demyelination. Neurology 63:1744–1746PubMed

55.

Patlas M, Shapira MY, Nagler A, Sheffer R, Gomori JM (2001) MRI of mannosidosis. Neuroradiology 43:941–943PubMedCrossRef

56.

Dietemann JL, Filippi de la Palavesa MM, Tranchant C, Kastler B (1990) MR findings in mannosidosis. Neuroradiology 32:485–487PubMedCrossRef

57.

Galluzzi P, Rufa A, Balestri P, Cerase A, Federico A (2001) MR brain imaging of fucosidosis type I. AJNR Am J Neuroradiol 22:777–780PubMed

58.

Ismail EA, Rudwan M, Shafik MH (1999) Fucosidosis: immunological studies and chronological neuroradiological changes. Acta Paediatr 88:224–227PubMedCrossRef

59.

Terespolsky D, Clarke JT, Blaser SI (1006) Evolution of the neuroimaging changes in fucosidosis type II. J Inherit Metab Dis 19:775–781CrossRef

60.

Provenzale JM, Barboriak DP, Sims K (1995) Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease. AJNR Am J Neuroradiol 16:809–813PubMed

61.

Confort-Goyny S, Chabrol B, Vion-Dury J, Mancini J, Cozzone PJ (1993) MRI and localized proton MRS in early infantile form of neuronal ceroid-lipofuscinosis. Pediatr Neurol 9:57–60CrossRef

62.

Matheus MG, Castillo M, Smith JK, Armao D, Towle D, Muenzer J (2004) Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology 46:666–672PubMedCrossRef

63.

Gabrielli O, Polonara G, Regnicolo L, Petroni V, Scarabino T, Coppa GV, Salvolini U (2004) Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses. Am J Med Genet 125:224–231CrossRef

64.

Barone R, Parano E, Trifiletti RR, Fiumara A, Pavone P (2002) White matter changes mimicking a leukodystrophy in a patient with mucopolysaccharidosis: a characterization by MRI. J Neurol Sci 195:171–175PubMedCrossRef

65.

Barone R, Nigro F, Triulzi F, Musumeci S, Fiumara A, Pavone L (1999) Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome). Neuropediatrics 30:270–274PubMedCrossRef

66.

Hughes DG, Chadderton RD, Cowie RA, Wraith JE, Jenkins JP (1997) MRI of the brain and craniocervical junction in Morquio’s disease. Neuroradiology 39:381–385PubMedCrossRef

67.

Zafeiriou DI, Savvopoulou Augoustidou PA, Sewell A et al (2001) Serial magnetic resonance imaging findings in mucopolysaccharidosis IIIB (Sanfilippo’s syndrome B). Brain Dev 23:385–389PubMedCrossRef

68.

Petitti N, Holder CA, Williams DW 3rd (1997) Mucopolysaccharidosis III (San Filippo syndrome) type B: cranial imaging in two cases. J Comput Assist Tomogr 21:897–899PubMedCrossRef

69.

Shinomiya N, Nagayama T, Fujioka Y, Aoki T (1996) MRI in the mild type of mucopolysaccharidosis II (Hunter’s syndrome). Neuroradiology 38:483–485PubMed

70.

Lee C, Dineen TE, Brack M, Kirsch JE, Runge VM (1994) The mucopolysaccharidoses: characterization by cranial MR imaging. AJNR Am J Neuroradiol 14:1285–1292

71.

Parsons VJ, Hughes DG, Wraith JE (1996) Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter’s syndrome (mucopolysaccharidoses type II). Clin Radiol 51:719–723PubMedCrossRef

72.

Buyukgebiz B, Eroglu Y, Kovanlikaya I, Sen A, Buyukgebiz A (1995) Maroteaux-Lamy syndrome associated with growth hormone deficiency. J Pediatr Endocrinol Metab 8:305–307PubMed

73.

Murata R, Nakajima S, Tanaka A, Miyagi N, Matsuoka O, Kogame S, Inoue Y (1989) MR imaging of the brain in patients with mucopolysaccharidosis. AJNR Am J Neuroradiol 10:1165–1170PubMed

74.

Gabrielli O, Salvolini U, Maricotti M, Mariani MG, Coppa GV, Giorgi PL (1992) Cerebral MRI in two brothers with mucopolysaccharidosis type 1 and different genotypes. Neuroradiology 34:313–315PubMedCrossRef

75.

Shimoda-Matsubayashi S, Kuru Y, Sumie H, Ito T, Hattori N, Okuma Y, Mizuno Y (1990) MRI findings in the mild type of mucopolysaccharidosis II (Hunter’s syndrome). Neuroradiology 32:328–330PubMedCrossRef

76.

Rauch RA, Friloux LA 3rd, Lott I (1989) MR imaging of cavitary lesions in the brain with Hurler/Scheie. AJNR Am J Neuroradiol 10 (5 Suppl):S1–S3PubMed

77.

Lee CC, Chen CY, Chou TY, Chen FH, Lee CC, Zimmerman RA (1996) Cerebral manifestations of Pompe disease in an infant. AJNR Am J Neuroradiol 17:321–322PubMed

78.

Al-Essa MA, Bakheet SM, Patay ZJ, Powe JE, Ozand PT (1999) Normal fluorine-18-labelled 2-fluoro-2-deoxyglucose positron emission tomography and magnetic resonance imaging of the brain in Wolman disease. J Inherit Metab Dis 22:846–848PubMedCrossRef

79.

Yang YL, Sun F, Zhang Y et al (2006) Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome. Chin Med J 118:373–377

80.

Mannan AA, Sharma MC, Shrivastava P et al (2004) Leigh’s syndrome. Indian J Pediatr 71:1029–1033PubMed

81.

Crimi M, Papadimitriou A, Galbiati S et al (2004) A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality. Pediatr Res 55:842–846PubMedCrossRef

82.

Filiano JJ, Goldenthal MJ, Mamourian AC, Hall CC, Marin-Garcia J (2002) Mitochondrial DNA depletion in Leigh syndrome. Pediatr Neurol 26:239–242PubMedCrossRef

83.

Cacic M, Wilichowski E, Mejaski-Bosnjak V et al (2001) Cytochrome c oxidase partial deficiency-associated Leigh disease presenting as an extrapyramidal syndrome. J Child Neurol 16:616–619PubMed

84.

Nagashima T, Mori M, Katayama K et al (1999) Adult Leigh syndrome with mitochondrial DNA mutation at 8993. Acta Neuropathol (Berl) 97:416–422CrossRef

85.

Chu BC, Terae S, Takahashi C et al (1999) MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review. Neuroradiology 41:759–764PubMedCrossRef

86.

Nakagawa E, Hirano S, Yamanouchi H, Goto Y, Nonaka I, Takashima S (1994) Progressive brainstem and white matter lesions in Kearns-Sayre syndrome: a case report. Brain Dev 16:416–418PubMedCrossRef

87.

Kim IO, Kim JH, Kim WS, Hwang YS, Yeon KM, Han MC (1996) Mitochondrial myopathy-encephalopathy-lactic acidosis-and strokelike episodes (MELAS) syndrome: CT and MR findings in seven children. AJR Am J Roentgenol 166:641–645PubMed

88.

Wray SH, Provenzale JM, Johns DR, Thulborn KR (1995) MR of the brain in mitochondrial myopathy. AJNR Am J Neuroradiol 16:1167–1173PubMed

89.

Nolli M, Barbieri A, Pinna C, Pasetto A, Nicosia F (2005) Wernicke’s encephalopathy in a malnourished surgical patient: clinical features and magnetic resonance imaging. Acta Anaesthesiol 49:1566–1570CrossRef

90.

Weidauer S, Nichtweiss M, Lanfermann H, Zanella FE (2003) Wernicke encephalopathy: MR findings and clinical presentation. Eur Radiol 13:1001–1009PubMed

91.

Oka M, Terae S, Kobayashi R et al (2001) Diffusion-weighted MR findings in a reversible case of acute Wernicke encephalopathy. Acta Neurol Scand 104:178–181PubMedCrossRef

92.

Antunez E, Estruch R, Cardenal C, Nicolas JM, Fernandez-Sola J, Urbano-Marquez A (1998) Usefulness of CT and MR imaging in the diagnosis of acute Wenicke’s encephalopathy. AJR Am J Roentgenol 171:1131–1137PubMed

93.

Hahn JS, Berquist W, Alcorn DM, Chamberlain L, Bass D (1998) Wernicke encephalopathy and beriberi during total parenteral nutrition attributable to multivitamin infusion shortage. Pediatrics 101:E10PubMedCrossRef

94.

Huang CC, Chu NS, Yen TC, Wai YY, Lu CS (2003) Dopamine transporter binding in Wilson’s disease. Can J Neurol Sci 30:163–167PubMed

95.

Wu JC, Huang CC, Jeng LB, Chu NS (2000) Correlation of neurological manifestations and MR images in a patient with Wilson’s disease after liver transplantation. Acta Neurol Scand 102:134–139CrossRef

96.

Alanen A, Komu M, Penttinen M, Leino R (1999) Magnetic resonance imaging and proton spectroscopy in Wilson’s disease. Br J Radiol 72:749–756PubMed

97.

Takahashi W, Yoshii F, Shinohara Y (1996) Reversible magnetic resonance imaging lesions in Wilson’s disease: clinical-anatomical correlation. J Neuroimaging 6:246–248PubMed

98.

Huang CC, Chu NS (1998) Acute dystonia with thalamic and brainstem lesions after initial penicillamine treatment in Wilson’s disease. Eur Neurol 39:32–37PubMedCrossRef

99.

Sener RN (1993) Wilson’s disease: MRI demonstration of cavitations in basal ganglia and thalami. Pediatr Radiol 23:157PubMedCrossRef

100.

Saatci I, Topcu M, Baltaoglu FF, Kose G, Yalaz K, Renda Y, Besim A (1997) Cranial MR findings in Wilson’s disease. Acta Radiol 38:250–258PubMedCrossRef

101.

Huang CC, Chu NS (1996) Wilson’s disease: resolution of MRI lesions following long-term oral zinc therapy. Acta Neurol Scand 93:215–218PubMedCrossRef

102.

Binesh N, Huda A, Thomas MA et al (2006) Hepatic encephalopathy: a neurochemical, and neurophysiological study. J Appl Clin Med Phys 7:86–96PubMedCrossRef

103.

Miyaoka T, Yasukawa R, Mihara T et al (2005) Fluid-attenuated inversion-recovery MR imaging in schizophrenia-associated with idiopathic unconjugated hyperbilirubinemia (Gilbert’s syndrome). Eur Psychiatry 20:327–331PubMedCrossRef

104.

Yilmaz Y, Ekinci G (2002) Thalamic involvement in a patient with kernikterus. Eur Radiol 12:1837–1839PubMedCrossRef

105.

Ozdoba C, Pfenninger J, Schroth G (1997) Initial and follow-up MRI in a case of early diagnosed Reye’s syndrome. Neuroradiology 39:495–498PubMedCrossRef

106.

Hoon AH Jr, Reinhardt EM, Kelley RI, Breiter SN, Morton DH, Naidu SB, Johnston MV (1997) Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: observations in distinguishing genetic-metabolic from acquired causes. J Pediatr 131:240–245PubMedCrossRef

107.

Schonberger S, Schweiger B, Schwahn B, Schwarz M, Wendel U (2004) Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease. Mol Genet Metab 82:69–75PubMedCrossRef

108.

Majoie CB, Mourmans JM, Akkerman EM, Duran M, Poll-The BT (2004) Neonatal citrullemia: comparison of conventional MR, diffusion-weighted, and diffusion tensor findings. AJNR Am J Neuroradiol 25:32–35PubMed

109.

Takei Y, Akahane C, Ikeda S (2003) Osmotic demyelination syndrome: reversible MRI findings in bilateral cortical lesions. Intern Med 42:867–870PubMed

110.

Bourgouin P, Chalk C, Richardson J, Duong H, Vezina J (1995) Subcortical white matter lesions in osmotic demyelination syndrome. AJNR Am J Neuroradiol 16:1495–1497PubMed

111.

Weber U, Huppe T, Niehaus L (2000) CT and MRI in severe hypophosphataemia with central nervous system involvement. Neuroradiology 42:112–114PubMedCrossRef

112.

Porto L, Lanferman H, Moller-Hartmann W, Jacobi G, Zanella F (1999) Acute necrotising encephalopathy of childhood after exanthema subitum outside Japan or Taiwan. Neuroradiology 41:732–734PubMedCrossRef

113.

Neilson DE, Eiben RM, Waniewski S et al (2003) Autosomal dominant acute necrotizing encephalopathy. Neurology 61:226–230PubMedCrossRef

114.

Hartfield DS, Loewy JA, Yager JY (1999) Transient thalamic changes on MRI in a child with hypernatremia. Pediatr Neurol 20:60–62PubMedCrossRef

115.

Kobari M, Nogawa S, Sugimoto Y, Fukuuchi Y (1997) Familial idiopathic brain calcification with autosomal dominant inheritance. Neurology 48:645–649PubMed

116.

Nishio H, Kodama S, Matsuo T, Ichihashi M, Ito H, Fujiwara Y (1988) Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset. J Inherit Metab Dis 11:88–102PubMedCrossRef

117.

Rabi II, Zacharias JR, Millman S, Kusch P (1938) A new method of measuring nuclear magnetic moment. Phys Rev 53:318CrossRef

118.

Solomon I (1955) Relaxation processes in a system of two spins. Phys Rev 99:559–565CrossRef

119.

Bloembergen N, Purcell EM, Pound RV (1948) Relaxation effects in nuclear magnetic resonance absorption. Phys Rev 73:679–712CrossRef

120.

Cavanagh J, Fairbrother WJ, Palmer AG III, Skelton NJ (1996) Protein NMR spectroscopy: principles and practice. Academic Press, London, p 587

121.

Holmberg V, Lauronen L, Autti T, Santavuori P, Savukoski M, Uvebrant P, Hofman I, Peltonen L, Jarvela I (2000) Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). Neurology 55:579–581PubMed

Titel: Decreased T2 signal in the thalami may be a sign of lysosomal storage disease
verfasst von: Taina Autti
Raimo Joensuu
Laura Åberg
Publikationsdatum: 01.07.2007
Verlag: Springer-Verlag
Erschienen in: Neuroradiology / Ausgabe 7/2007
Print ISSN: 0028-3940
Elektronische ISSN: 1432-1920
DOI: https://doi.org/10.1007/s00234-007-0220-6

Leitlinien kompakt für die Neurologie

Mit medbee Pocketcards sicher entscheiden.

^{Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag}

Kostenlos registrieren

Neu im Fachgebiet Neurologie

23.04.2024 | Demenz | Nachrichten

Update Neurologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Springer Medizin

Decreased T2 signal in the thalami may be a sign of lysosomal storage disease

Abstract

Introduction

Aims

Methods

Results

Conclusion

Leitlinien kompakt für die Neurologie

Neu im Fachgebiet Neurologie

Demenzkranke durch Antipsychotika vielfach gefährdet

Parkinson-Therapie im Wandel – aktuelle Leitlinie im Fokus

Auf diese Krankheiten bei Geflüchteten sollten Sie vorbereitet sein

Hustenstiller lindert Agitation bei Alzheimer

Update Neurologie

Springer Medizin

Abstract

Introduction

Aims

Methods

Results

Conclusion

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 7/2007

Alanine peak in central neurocytomas on proton MR spectroscopy

A new self-expanding nitinol stent (Enterprise) for the treatment of wide-necked intracranial aneurysms: initial clinical and angiographic results in 31 aneurysms

Accordion effect during carotid artery stenting

36th Annual Meeting of the Japanese Society of Neuroradiology, 8–10 February 2007, Kagawa, Japan

European Society of Neuroradiology (ESNR)

A 6F guide sheath for endovascular treatment of intracranial aneurysms

Leitlinien kompakt für die Neurologie

Neu im Fachgebiet Neurologie

Demenzkranke durch Antipsychotika vielfach gefährdet

Parkinson-Therapie im Wandel – aktuelle Leitlinie im Fokus

Auf diese Krankheiten bei Geflüchteten sollten Sie vorbereitet sein

Hustenstiller lindert Agitation bei Alzheimer

Update Neurologie