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Poorly controlled homocystinuria due to cystathionine β-synthase deficiency can develop varying degrees of T1 hypointensity, T2 hyperintensity, and diffusion restriction in the white matter of the brain that should not be mistaken for other vascular, toxic or metabolic disorders. While the underlying pathophysiology of these imaging findings is poorly understood and likely multifactorial, hypermethioninemia (and not hyperhomocysteinemia) is believed to be the major contributor to white matter abnormalities.






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Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria

Free full text article: Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria

Abstract
Homocystinuria is an inherited metabolic disorder most commonly caused by cystathionine β-synthase deficiency. Severe cases can cause white matter abnormalities that can mimic other vascular, toxic and metabolic disorders on computed tomography and magnetic resonance imaging. We present such a case which demonstrates not only extensive white matter abnormalities on magnetic resonance imaging, but also previously unreported basal ganglia signal abnormalities and imaging manifestations of increased intracranial pressure, likely caused by elevated methionine and betaine therapy. We also review the literature and discuss the potential underlying biologic mechanisms of these imaging findings.






References



1. Mudd S, Levy H, Kraus J. Disorders of Transsulfuration. In: Valle D, Beaudet A, Vogelstein B, et al., eds The Online Metabolic and Molecular Bases of Inherited Disease
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


2. Morris AAM, Kožich V, Santra S. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis 2017;40(1):49-74
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


3. Yaghmai R, Kashani AH, Geraghty MT. Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency. Am J Med Genet 2002;108(1):57-63
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


4. Devlin AM, Hajipour L, Gholkar A, Fernandes H, Ramesh V, Morris AAM. Cerebral edema associated with betaine treatment in classical homocystinuria. J Pediatr 2004;144(4):545-548
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


5. Vatanavicharn N, Pressman BD, Wilcox WR. Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report. J Inherit Metab Dis 2008;31 Suppl 3:477-481
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


6. Brenton JN, Matsumoto JA, Rust RS, Wilson WG. White matter changes in an untreated, newly diagnosed case of classical homocystinuria. J Child Neurol 2014;29(1):88-92
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


7. Sasai H, Shimozawa N, Asano T. Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine ?-Synthase Deficiency. Tohoku J Exp Med 2015;237(4):323-327
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


8. Braverman NE, Mudd SH, Barker PB, Pomper MG. Characteristic MR imaging changes in severe hypermethioninemic states. AJNR Am J Neuroradiol 2005;26(10):2705-2706
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


9. Lawson-Yuen A, Levy HL. The use of betaine in the treatment of elevated homocysteine. Mol Genet Metab 2006;88(3):201-207
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


10. Mudd SH, Braverman N, Pomper M. Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap. Mol Genet Metab 2003;79(1):6-16
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


11. Hattori H, Kanfer JN. Inhibition of rat brain microsomal Na+,K+-ATPase by S-adenosylmethionine. J Neurochem 1984;42(1):204-208
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


12. Surtees R, Bowron A, Leonard J. Cerebrospinal fluid and plasma total homocysteine and related metabolites in children with cystathionine beta-synthase deficiency: the effect of treatment. Pediatr Res 1997;42(5):577-582
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


13. Streck EL, Zugno AI, Tagliari B, Wannmacher C, Wajner M, Wyse ATS. Inhibition of Na+, K+-ATPase activity by the metabolites accumulating in homocystinuria. Metab Brain Dis 2002;17(2):83-91
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


14. Streck EL, Matte C, Vieira PS. Reduction of Na(+),K(+)-ATPase activity in hippocampus of rats subjected to chemically induced hyperhomocysteinemia. Neurochem Res 2002;27(12):1593-1598
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


15. Stefanello FM, Scherer EBS, Kurek AG, Mattos CB, Wyse ATS. Effect of hypermethioninemia on some parameters of oxidative stress and on Na(+),K (+)-ATPase activity in hippocampus of rats. Metab Brain Dis 2007;22(2):172-182
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


16. Engelbrecht V, Scherer A, Rassek M, Witsack HJ, Mödder U. Diffusion-weighted MR imaging in the brain in children: findings in the normal brain and in the brain with white matter diseases. Radiology 2002;222(2):410-418
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


17. Tada H, Takanashi J, Barkovich AJ, Yamamoto S, Kohno Y. Reversible white matter lesion in methionine adenosyltransferase I/III deficiency. AJNR Am J Neuroradiol 2004;25(10):1843-1845
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


18. van den Berg M, van der Knaap MS, Boers GH, Stehouwer CD, Rauwerda JA, Valk J. Hyperhomocysteinaemia; with reference to its neuroradiological aspects. Neuroradiology 1995;37(5):403-411
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


19. Surtees R, Leonard J, Austin S. Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway. Lancet (London, England) 1991;338(8782-8783):1550-1554
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


20.Chamberlin ME, Ubagai T, Mudd SH, et al. Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. Am J Hum Genet. 2000;66(2):347-355
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


21. Morreels CL, Fletcher BD, Weilbaecher RG, Dorst JP. The roentgenographic features of homocystinuria. Radiology 1968;90(6):1150-1158
Get full text
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22. Schwab FJ, Peyster RG, Brill CB. CT of cerebral venous sinus thrombosis in a child with homocystinuria. Pediatr Radiol 1987;17(3):244-245
Get full text
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23. Barkovich AJ. Toxic and Metabolic Brain Disorders. In: Pediatric Neuroimaging 4th ed
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24. Sener RN. Canavan disease: diffusion magnetic resonance imaging findings. J Comput Assist Tomogr 2003;27(1):30-33
Get full text
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1. homocystinuria

2. cystathionine beta synthase deficiency

3. magnetic resonance imaging

4. brain

5. cerebral edema

6. intracranial pressure

7. white matter

8. diffusion restriction


This article belongs to the Pediatric section.


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