Adult-onset adrenoleukodystrophy presenting as a psychiatric disorder: MRI findings

Galvão, Antonio Cézar Ribeiro; Machado-Porto, Gislaine Cristina Lopes; Porto, Fábio Henrique de Gobbi; Lucato, Leandro Tavares; Nitrini, Ricardo

doi:10.1590/S1980-57642012DN06040015

ABSTRACT

A 35-year-old, previously healthy man presented psychiatric symptoms lasting four years, receiving treatment with neuroleptics. One year later he evolved with gait disequilibrium. After a further six months, cognitive symptoms were characterized with rapid evolution to a profound demented state. MRI showed signal changes in cerebral white matter and very long-chain fatty acids were detected in blood.

Key words:
leukoencephalopathies; leukodystrophies; adult-onset adrenoleukodystrophy; magnetic resonance imaging

RESUMO

Homem de 35 anos, previamente saudável, iniciou há quatro anos sintomas psiquiátricos, recebendo tratamento com neurolépticos. Um ano após evoluiu com alterações do equilíbrio. Há seis meses apresentou distúrbios cognitivos, piorando rapidamente a um estado de profunda demência. RM do encéfalo revelou intensa alteração de sinal na substância branca cerebral e foram detectados ácidos graxos de cadeia muito longa no sangue.

Palavras-chave:
leucoencefalopatias; leucodistrofias; início adulto adrenoleucodistrofia; ressonância magnética

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REFERENCES

Schiffmann R, Van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 2009;72:750-759.
Pastores GM. Leukoencephalopathies and leukodistrophies. Continuum (Minneap Minn) 2010;16:102-119.
Luda E, Barisone MG. Adul-onset adrenoleucodystrophy: a clinical and neuropsychological study. Neurol Sci 2001;22:21-25.
Rosebush PI, Garside S, Levinson AJ, Mazurek MF. The neuropsychiatry of adult-onset adrenoleucodystrophy. J Neuropsychiatry Clin Neurosci 1999;11:315-327.
Moser HW, Moser AE, Singh I, O'Neill BP. Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy. Ann Neurol 1984;16:628-641.
Van Geel BM, Assies J, Wanders RJ, Barth PG. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy. J Neurol Neurosurg Psychiatry 1997;63:4-14.
Moser HW, Moser AB, Naidu S, Bergin A. Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy. Dev Neurosci 1991;13:254-264.
Griffin JW, Goren E, Schaumburg H, Engel WK, Loriaux L. Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. I. Clinical and endocrinologic aspects. Neurology 1977;27:1107-1113.
Kitchen W, Cohen-Cole SA, Mickel SF. Adrenoleukodystrophy: frequency of presentation as a psychiatric disorder. Biol Psychiatry 1987;22: 1375-1387.
Menza MA, Blake J, Goldberg L. Affective symptoms and adrenoleukodystrophy: a report of two cases. Psychosomatics 1988;29:442-445.
Schaumburg HH, Powers JM, Raine CS, Suzuki K, Richardson EP Jr. Adrenoleukodystrophy: a clinical and pathological study of 17 cases. Arch Neurol 1975;32:577-591.
Gray AM. Addison's disease and diffuse cerebral sclerosis. J Neurol Neurosurg Psychiatry 1969;32:344-347.
Van der Knaap MS, Valk J. Magnetic Resonance of Myelination and Myelin Disorders, 3rd ed. Berlin: Springer; 2005.
Kim JH, Kim HJ Childhood X-linked Adrenoleukodystrophy: Clinical-Pathologic Overview and MR Imaging Manifestations at Initial Evaluation and Follow-up. RadioGraphics 2005;25:619-631.
Moloney JB, Masterson JG. Detection of adrenoleukodystrophy carriers by means of evoked potentials. Lancet 1982;2:852-853.
Garg BP, Markand ON, DeMyer WE, Warren C Jr. Evoked response studies in patients with adrenoleukodystrophy and heterozygous relatives. Arch Neurol 1983;40:356-359.
Loes DJ, Fatemi A, Melhem ER, et al. Analysis of MRI patterns aids prediction of progression in X- linked adrenoleukodystrophy. Neurology 2003;61:369-374.
Kumar AJ, Köhler W, Kruse B, et al. MR findings in adult-onset adrenoleucodystrophy. AJNR Am J Neuroradiol 1995;16:1227-1237.
Melhem ER, Loes DJ, Georgiades CS, Raymond GV, Moser HW.X-linked Adrenoleukodystrophy: The Role of Contrast-enhanced MR Imaging in Predicting Disease Progression. AJNR Am J Neuroradiol 2000;21:839-844.
Aubourg P, Adamsbaum C, Larallard-Rousseau MC, et al:Atwo year trial of oleic and erucic acids (Lorenzo's oil) as treatment for adrenomyeloneuropathy. N Engl J Med 1993;329:745-752.
Rizzo WB: Lorenzo's oil: hope and disappointment (editorial). N Engl J Med 1993;329:801-802.
Korenke GC, Hunneman DH, Kohler J, Stöckler S, Landmark K, Hanefeld F. Glyceroltrioleate/ glyceroltrierucate therapy in 16 patients with X-chromosomal adrenoleukodystrophy/adrenomyeloneuropathy: effect on clinical, biochemical and neurophysiological parameters. Eur J Pediatr 1996;154:64-70.
Moser HW. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 1997;120:1485-1508.
Aubourg P, Blanche S, Jambaque, et al. Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplant. N Engl J Med 1990;322:1860-1866.
Krivit W, Lockman LA, Watkins PA, Hirsch J, Shapiro EG. The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome. J Inherit Metab Dis 1995;18:398-412.

Publication Dates

Publication in this collection
Oct-Dec 2012

History

Received
26 Aug 2012
Accepted
29 Oct 2012

This is an open-access article distributed under the terms of the Creative Commons Attribution License

[1] Schiffmann R, Van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 2009;72:750-759.

[2] Pastores GM. Leukoencephalopathies and leukodistrophies. Continuum (Minneap Minn) 2010;16:102-119.

[3] Luda E, Barisone MG. Adul-onset adrenoleucodystrophy: a clinical and neuropsychological study. Neurol Sci 2001;22:21-25.

[4] Rosebush PI, Garside S, Levinson AJ, Mazurek MF. The neuropsychiatry of adult-onset adrenoleucodystrophy. J Neuropsychiatry Clin Neurosci 1999;11:315-327.

[5] Moser HW, Moser AE, Singh I, O'Neill BP. Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy. Ann Neurol 1984;16:628-641.

[6] Van Geel BM, Assies J, Wanders RJ, Barth PG. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy. J Neurol Neurosurg Psychiatry 1997;63:4-14.

[7] Moser HW, Moser AB, Naidu S, Bergin A. Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy. Dev Neurosci 1991;13:254-264.

[8] Griffin JW, Goren E, Schaumburg H, Engel WK, Loriaux L. Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. I. Clinical and endocrinologic aspects. Neurology 1977;27:1107-1113.

[9] Kitchen W, Cohen-Cole SA, Mickel SF. Adrenoleukodystrophy: frequency of presentation as a psychiatric disorder. Biol Psychiatry 1987;22: 1375-1387.

[10] Menza MA, Blake J, Goldberg L. Affective symptoms and adrenoleukodystrophy: a report of two cases. Psychosomatics 1988;29:442-445.

[11] Schaumburg HH, Powers JM, Raine CS, Suzuki K, Richardson EP Jr. Adrenoleukodystrophy: a clinical and pathological study of 17 cases. Arch Neurol 1975;32:577-591.

[12] Gray AM. Addison's disease and diffuse cerebral sclerosis. J Neurol Neurosurg Psychiatry 1969;32:344-347.

[13] Van der Knaap MS, Valk J. Magnetic Resonance of Myelination and Myelin Disorders, 3rd ed. Berlin: Springer; 2005.

[14] Kim JH, Kim HJ Childhood X-linked Adrenoleukodystrophy: Clinical-Pathologic Overview and MR Imaging Manifestations at Initial Evaluation and Follow-up. RadioGraphics 2005;25:619-631.

[15] Moloney JB, Masterson JG. Detection of adrenoleukodystrophy carriers by means of evoked potentials. Lancet 1982;2:852-853.

[16] Garg BP, Markand ON, DeMyer WE, Warren C Jr. Evoked response studies in patients with adrenoleukodystrophy and heterozygous relatives. Arch Neurol 1983;40:356-359.

[17] Loes DJ, Fatemi A, Melhem ER, et al. Analysis of MRI patterns aids prediction of progression in X- linked adrenoleukodystrophy. Neurology 2003;61:369-374.

[18] Kumar AJ, Köhler W, Kruse B, et al. MR findings in adult-onset adrenoleucodystrophy. AJNR Am J Neuroradiol 1995;16:1227-1237.

[19] Melhem ER, Loes DJ, Georgiades CS, Raymond GV, Moser HW.X-linked Adrenoleukodystrophy: The Role of Contrast-enhanced MR Imaging in Predicting Disease Progression. AJNR Am J Neuroradiol 2000;21:839-844.

[20] Aubourg P, Adamsbaum C, Larallard-Rousseau MC, et al:Atwo year trial of oleic and erucic acids (Lorenzo's oil) as treatment for adrenomyeloneuropathy. N Engl J Med 1993;329:745-752.

[21] Rizzo WB: Lorenzo's oil: hope and disappointment (editorial). N Engl J Med 1993;329:801-802.

[22] Korenke GC, Hunneman DH, Kohler J, Stöckler S, Landmark K, Hanefeld F. Glyceroltrioleate/ glyceroltrierucate therapy in 16 patients with X-chromosomal adrenoleukodystrophy/adrenomyeloneuropathy: effect on clinical, biochemical and neurophysiological parameters. Eur J Pediatr 1996;154:64-70.

[23] Moser HW. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 1997;120:1485-1508.

[24] Aubourg P, Blanche S, Jambaque, et al. Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplant. N Engl J Med 1990;322:1860-1866.

[25] Krivit W, Lockman LA, Watkins PA, Hirsch J, Shapiro EG. The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome. J Inherit Metab Dis 1995;18:398-412.

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