Annals of Indian Academy of Neurology
IMAGES IN NEUROLOGY
Year
: 2014  |  Volume : 17  |  Issue : 2  |  Page : 211--213

Intramyelinic edema in maple syrup urine disease


Leema Pauline Cornelius1, B. Kannan1, Viveka Saravanan1, Eswaradass Prasanna Venkatesan2,  
1 Department of Neurology, Institute of Child Health, Egmore, Chennai, India
2 Department of Neurology, PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu, India

Correspondence Address:
Eswaradass Prasanna Venkatesan
Vijayarahavachari, Gandhi Road, Salem - 636 007, Tamil Nadu
India




How to cite this article:
Cornelius LP, Kannan B, Saravanan V, Venkatesan EP. Intramyelinic edema in maple syrup urine disease.Ann Indian Acad Neurol 2014;17:211-213


How to cite this URL:
Cornelius LP, Kannan B, Saravanan V, Venkatesan EP. Intramyelinic edema in maple syrup urine disease. Ann Indian Acad Neurol [serial online] 2014 [cited 2021 May 16 ];17:211-213
Available from: https://www.annalsofian.org/text.asp?2014/17/2/211/132638


Full Text

 Introduction



Maple syrup urine disease (MSUD) is a rare inborn error of metabolism. Here we describe a case of MSUD and its typical Magnetic resonance imaging features.

 Case Report



A 37-day-old female child, fourth born of second degree consanguineous parents, admitted with seizures, lethargy, poor feeding, and failure to gain weight. She was born of a cesarean delivery with a birth weight of 2.9 kg. She cried immediately at birth and there was no history of respiratory distress or neonatal jaundice. Her two elder siblings died in the newborn period with history of seizures. Mother noticed an abnormal odor of urine at times. Examination revealed a lethargic child weighing 1.8 kg with no lateralizing signs or neurocutaneous markers. Complete hemogram, renal parameters, liver function tests, and serum electrolytes were normal. Seizures were controlled with phenobarbitone. Serum lactate, pyruvate, and ammonia were within normal limits. Urine screening was negative. Cerebrospinal fluid (CSF) analysis did not reveal any abnormality. Magnetic resonance imaging (MRI) brain showed bilateral symmetrical lesions involving posterior limb of internal capsule, thalmi, brainstem, and centrum semiovale [Figure 1],[Figure 2],[Figure 3],[Figure 4],[Figure 5],[Figure 6],[Figure 7] and [Figure 8]. Serum high-performance liquid chromatography (HPLC) amino acid profile showed an elevation of leucine - 4,529 (47-155), isoleucine - 286 (31-86), and valine - 575 (64-294) suggestive of maple syrup urine disease (MSUD). Urine for organic acids did not reveal any abnormality. Baby was started on carnitine and thiamine supplementation. Enzyme assay could not be done due to want of facilities. Baby developed respiratory distress and died ten days after hospitalization.{Figure 1}{Figure 2}{Figure 3}{Figure 4}{Figure 5}{Figure 6}{Figure 7}{Figure 8}

 Discussion



MSUD is a rare inborn error of branched-chain amino acid metabolism. There is defective decarboxylation of these amino acids causing accumulation of branched chain amino acids and their ketoacids in the body. Whether the irreversible neurotoxicity is due to myelin breakdown and neuronal loss or there is hypomyelination of the involved region is unknown. [1] The typical areas of involvement in MSUD includes the deep cerebellar white matter, dorsal brainstem, cerebral peduncles, posterior limbs of the internal capsule, perirolandic white matter, and sometimes, globus pallidi. [2] Patients with MSUD can be divided into five phenotypes: Classic, intermittent, intermediate, thiamine responsive, and dihydrolipoyl dehydrogenase deficient forms. Among them, classic MSUD is characterized by a neonatal onset of encephalopathy and is the most common and most severe form. [3] In MSUD encephalopathy, there are two types of edema seen in MRI. First is intramyelinic edema and other is vasogenic-interstitial edema. Electron microscopy studies in animal models of MSUD have demonstrated that intramyelinic vacuoles are formed through water accumulation between the myelinic lamellae to form intramyelinic edema. Whereas, vasogenic-interstitial edema is due to alteration in blood-brain barrier usually observed in unmyelinated areas. [4] In MSUD encephalopathy, it has been hypothesized that myelinated areas show hyperintensity on diffusion-weighted (DW) images because of intramyelinic edema; whereas, unmyelinated areas show hypointensity because of vasogenic interstitial edema. [5],[6] Hence in MSUD, DW imaging is more useful than other sequences as it detects both types of edema. Because intramyelinic edema in MSUD encephalopathy are considered to be associated with myelination, it may be speculated that they change along with the age-dependent progression of myelination. [7] Both brain alterations and MRI findings in MSUD are reversible with treatment and normal neurologic development can be achieved with successful treatment. [8]

 Conclusion



MSUD is a very rare inborn error of metabolism (IEM). Knowledge about the classic MRI findings will help us to narrow down the vast differential diagnosis of IEM. In MRI, DW imaging is more useful than other sequences as it can detect both types of edema in MSUD. The diffusion restriction that we see in MSUD is due to intramyelinic edema.

References

1Muller K, Kahn T, Wendel U. Is demyelination a feature of maple syrup urine disease? Pediatr Neurol 1993;9:375-82.
2Brismar J, Aqeel A, Brismar G, Coates R, Gascon G, Ozand P. Maple syrup urine disease: Findings on CT and MR scans of the brain in 10 infants. AJNR Am J Neuroradiol 1990;11:1219-28.
3Chung DT, Shin VE. Maple syrup urine disease (branched chain ketoaciduria) In: Scriver CR, Beaudet AL, editors. The Metabolic and Molecular Bases of Inherited Disease. 8 th ed. New York: McGraw-Hill; 2001. p. 1971-2005.
4Harper PA, Healy PJ, Dennis JA. Ultrastructural findings in maple syrup urine disease in Poll Hereford calves. Acta Neuropathol 1986;71:316-20.
5Righini A, Ramenghi LA, Parini R, Triulzi F, Mosca F. Water apparent diffusion coefficient and T2 changes in the acute stage of maple syrup urine disease: Evidence of intramyelinic and vasogenic-interstitial edema. J Neuroimaging 2003;13:162-5.
6Jan W, Zimmerman RA, Wang ZJ, Berry GT, Kaplan PB, Kaye EM. MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation. Neuroradiology 2003;45:393-9.
7Sakai M, Inoue Y, Oba H, Ishiguro A, Sekiguchi K, Tsukune Y, et al. Age dependence of diffusion-weighted magnetic resonance imaging findings in maple syrup urine disease encephalopathy. J Comput Assist Tomogr 2005;29:524-7.
8Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI. Diagnosis and treatment of maple syrup disease: A study of 36 patients. Pediatrics 2002;109:999-1008.