Isovaleric acidaemia: Cranial CT and MRI findings

Ayhan Sogut; Ceyda Acun; Kubilay Aydin; Nazan Tomsac; Fatma Demirel; Cigdem Aktuglu

doi:10.1007/s00247-003-1049-8

Isovaleric acidaemia: Cranial CT and MRI findings

Ayhan Sogut, Ceyda Acun, Kubilay Aydin, Nazan Tomsac, Fatma Demirel, Cigdem Aktuglu

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Abstract

Isovaleric acidaemia is an inborn error of leucine metabolism due to deficiency of isovaleryl-CoA dehydrogenase, which results in accumulation of isovaleric acid in body fluids. There are acute and chronic-intermittent forms of the disease. We present the cranial CT and MRI findings of a 19-month-old girl with the chronic-intermittent form of isovaleric acidaemia. She presented with severe metabolic acidosis, hyperglycaemia, glycosuria, ketonuria and acute encephalopathy. Cranial CT revealed bilateral hypodensity of the globi pallidi. MRI showed signal changes in the globi pallidi and corticospinal tracts of the mesencephalon, which were hypointense on T1-weighted and hyperintense on T2-weighted images.

Original language	English (US)
Pages (from-to)	160-162
Number of pages	3
Journal	Pediatric radiology
Volume	34
Issue number	2
DOIs	https://doi.org/10.1007/s00247-003-1049-8
State	Published - Feb 2004

Keywords

Brain
CT
Child
Isovaleric acidaemia
MRI
Metabolic disorder

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Radiology Nuclear Medicine and imaging

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10.1007/s00247-003-1049-8

Cite this

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abstract = "Isovaleric acidaemia is an inborn error of leucine metabolism due to deficiency of isovaleryl-CoA dehydrogenase, which results in accumulation of isovaleric acid in body fluids. There are acute and chronic-intermittent forms of the disease. We present the cranial CT and MRI findings of a 19-month-old girl with the chronic-intermittent form of isovaleric acidaemia. She presented with severe metabolic acidosis, hyperglycaemia, glycosuria, ketonuria and acute encephalopathy. Cranial CT revealed bilateral hypodensity of the globi pallidi. MRI showed signal changes in the globi pallidi and corticospinal tracts of the mesencephalon, which were hypointense on T1-weighted and hyperintense on T2-weighted images.",

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AU - Sogut, Ayhan

AU - Acun, Ceyda

AU - Aydin, Kubilay

AU - Tomsac, Nazan

AU - Demirel, Fatma

AU - Aktuglu, Cigdem

PY - 2004/2

Y1 - 2004/2

N2 - Isovaleric acidaemia is an inborn error of leucine metabolism due to deficiency of isovaleryl-CoA dehydrogenase, which results in accumulation of isovaleric acid in body fluids. There are acute and chronic-intermittent forms of the disease. We present the cranial CT and MRI findings of a 19-month-old girl with the chronic-intermittent form of isovaleric acidaemia. She presented with severe metabolic acidosis, hyperglycaemia, glycosuria, ketonuria and acute encephalopathy. Cranial CT revealed bilateral hypodensity of the globi pallidi. MRI showed signal changes in the globi pallidi and corticospinal tracts of the mesencephalon, which were hypointense on T1-weighted and hyperintense on T2-weighted images.

AB - Isovaleric acidaemia is an inborn error of leucine metabolism due to deficiency of isovaleryl-CoA dehydrogenase, which results in accumulation of isovaleric acid in body fluids. There are acute and chronic-intermittent forms of the disease. We present the cranial CT and MRI findings of a 19-month-old girl with the chronic-intermittent form of isovaleric acidaemia. She presented with severe metabolic acidosis, hyperglycaemia, glycosuria, ketonuria and acute encephalopathy. Cranial CT revealed bilateral hypodensity of the globi pallidi. MRI showed signal changes in the globi pallidi and corticospinal tracts of the mesencephalon, which were hypointense on T1-weighted and hyperintense on T2-weighted images.

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KW - MRI

KW - Metabolic disorder

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Isovaleric acidaemia: Cranial CT and MRI findings

Abstract

Keywords

ASJC Scopus subject areas

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