Two Cases with Progressive Cystic Leukoencephalopathy

Abstract

Leukoencephalopathies with cystic changes in the white matter on magnetic resonance imaging are aetiologically heterogeneous neurological disorders seen in children. A group of leukoencephalopathies characterised by white matter lesions progressing to multifocal cystic degeneration has been reported in various disorders, including mitochondrial enzyme deficiencies, leukodystrophies, and infectious processes. We report two patients with leukoencephalopathy showing progressive cystic changes on serial MRI, and magnetic resonance spectroscopy resembling progressive cavitating leukoencephalopathy.

Key words

progressive cystic leukoencephalopathy - episodic clinical deterioration - lactate in magnetic resonance spectroscopy - mitochondrial leukoencephalopathies - multiple sclerosis - acute disseminated encephalomyelitis

References

• 1 Brockmann K, Bjornstad A, Dechent P. et al . Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency.  Ann Neurol. 2002;  52 38-46
• 2 Chang KH, Cha SH, Han MH. et al . Marchiafava-Bignami disease: serial changes in corpus callosum in MRI.  Neuroradiology. 1992;  34 480-482
• 3 De Recondo A, Guichard JP. Neurological picture. Acute disseminated encephalomyelitis presenting as multiple cystic lesions.  J Neurol Neurosurg Psychiatry. 1997;  63 15
• 4 Chabas D, Green AJ, Waubant E. Pediatric multiple sclerosis.  J Am Soc Exp NeuroTherap. 2006;  3 264-275
• 5 Farina L, Chiapparini L, Uziel G. et al . MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations.  Am J Neuroradiol. 2002;  23 1095-1100
• 6 Haddad E, Sulis ML, Jabado N. et al . Frequency and severity of central nervous system lesions in hemophagocytic lymphohistiocytosis.  Blood. 1997;  89 794-800
• 7 Hahn JS, Lannin WC, Sarwal MM. Microangiopathy of brain, retina, and inner ear (Susac's syndrome) in an adolescent female presenting as acute disseminated encephalomyelitis.  Pediatrics. 2004;  114 276-281
• 8 Henneke M, Preuss N, Engelbrecht V. et al . Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children.  Neurology. 2005;  64 1411-1416
• 9 Hynson JL, Kornberg AJ, Coleman LT. et al . Clinical and neuroradiologic features of acute disseminated encephalomyelitis in children.  Neurology. 2001;  56 1308-1312
• 10 Lerman-Sagie T, Leshinsky-Silver E, Watemberg N. et al . White matter involvement in mitochondrial diseases.  Mol Genet Metab. 2005;  84 127-136
• 11 Kang PB, Hunter JV, Melvin JJ. et al . Infantile leukoencephalopathy owing to mitochondrial enzyme dysfunction.  J Child Neurol. 2002;  17 421-428
• 12 McDonald WI, Compston A, Edan G. et al . Recommended diagnostic criteria for multiple sclerosis: guidelines from the International Panel on the diagnosis of multiple sclerosis.  Ann Neurol. 2001;  50 121-127
• 13 Muttikkal TJE, Vattoth S, Chavan VNK. Susac syndrome in a young child.  Pediatr Radiol. 2007;  37 710-713
• 14 Naidu S, Bibat G, Lin GB. et al . Progressive cavitating leukoencephalopathy: A novel childhood disease.  Ann Neurol. 2005;  58 929-938
• 15 Rahman S, Brown RM, Chong WK. et al . A SURF1 gene mutation presenting as isolated leukodystrophy.  Ann Neurol. 2001;  49 797-800
• 16 Schuelke M, Smeitink J, Mariman E. et al . Mutant NDUFV1subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.  Nature Genetics. 1999;  21 260-261
• 17 Susac JO, Hardman JM, Selhorst JB. Microangiopathy of the brain and retina.  Neurology. 1979;  29 313-316
• 18 Toelle SP, Huisman TA, Martin E. et al . Marchiafava-Bignami-like injury of the corpus callosum in an infant.  Neuropediatrics. 2005;  36 328-331
• 19 Topcu M, Saatci I, Apak A. et al . Leigh syndrome in a 3-year-old boy with unusual brain MR imaging and pathologic findings.  Am J Neuroradiol. 2000;  21 224-227
• 20 van der Knaap MS, Barth PG, Stroink H. et al . Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children.  Ann Neurol. 1995;  37 324-334
• 21 van der Knaap MS, Breiter SN, Naidu S. et al . Defining and categorazing leukoencephalopathies of unknown origin: MR imaging approach.  Radiology. 1999;  213 121-133
• 22 van der Knaap MS, Naidu S, Breiter SN. et al . Alexander disease: diagnosis with MR imaging.  Am J Neuroradiol. 2001;  22 541-552
• 23 van der Knaap MS, Pronk JC, Scheper GC. Vanishing white matter disease.  Lancet Neurol. 2006;  5 413-423
• 24 Wolf NI, Seitz A, Harting I. et al . New pattern of brain MRI lesions in isolated complex I deficiency.  Neuropediatrics. 2003;  34 156-159
• 25 Wong AM, Simon EM, Zimmerman RA. et al . Acute necrotizing encephalopathy of childhood: correlation of MR findings and clinical outcome.  Am J Neuroradiol. 2006;  27 1919-1923
• 26 Zafeiriou DI, Rodenburg RJ, Scheffer H. et al . MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course.  Neuropediatrics. 2008;  39 172-175

Correspondence