CT and MR of the brain in the diagnosis of organic acidemias Experiences from 107 patients

Brismar, J.; Özand, Pinar

doi:10.1016/0387-7604(94)90103-1

Cited by 80 publications

(43 citation statements)

References 22 publications

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“…Both lesions of the central brain nuclei and bilateral extensive white matter changes on MRI have been reported (Brismar and Ozand 1994;Cross et al 1994). Details of neuropathological and imaging findings are discussed below under Leigh syndrome.…”

mentioning

confidence: 86%

“…Astrocytosis of the cerebral cortex, basal ganglia and thalamus, in combination with small neuronal heterotopias in the cerebellar white matter and medulla, has been found in histopathological examination (Clayton et al 1986). Variable cerebral and cerebellar atrophy has been reported in MRI (Brismar and Ozand 1994). In the conditions mentioned, hypoglycaemia may contribute to the cerebral damage.…”

Section: Gluconeogenesis Defectsmentioning

confidence: 96%

“…In some patients the abnormalities are similar to Leigh disease with involvement of putamen, caudate nucleus, thalamus, hypothalamus, mammillary bodies, periaqueductal grey matter and quadrigeminal plate (Banmgartner et al 1989). In some, calcification of the basal nuclei is seen (Brismar and Ozand 1994). Extensive hypodensity of the cerebral white matter has been reported repeatedly, probably related to white-matter oedema (Bakker et al 1994).…”

Section: Gluconeogenesis Defectsmentioning

confidence: 97%

“…Lesions of the basal nuclei are seen in several other inborn errors of metabolism, in particular in organic acidaemias (Brismar and Ozand 1994), and in hypoxia-ischaemia. However, the presence of brainstem lesions is highly suggestive of Leigh syndrome.…”

Section: Respiratory-chain Defectsmentioning

confidence: 99%

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Magnetic resonance imaging in lactic acidosis

Knaap

Jakobs

Valk

1996

J of Inher Metab Disea

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Mitochondrial defects, defects in gluconeogenesis, and biotin-responsive multiple carboxylase deficiency are disorders characterized by primary lactic acidosis. In this review, characteristic findings in magnetic resonance imaging (MRI) of the brain, as related to histopathological abnormalities, are described for the different disorders and the diagnostic value of the MRI findings is discussed. Inborn errors of metabolism with primary lactic acidosis should be considered in particular when MRI shows lesions similar to or reminiscent of effects of focal or generalized hypoxia-ischaemia, or when MRI shows signs of chronic neurodegeneration, but rarely in cases with predominantly white-matter changes.

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mentioning

confidence: 86%

Section: Gluconeogenesis Defectsmentioning

confidence: 96%

Section: Gluconeogenesis Defectsmentioning

confidence: 97%

Section: Respiratory-chain Defectsmentioning

confidence: 99%

See 2 more Smart Citations

Magnetic resonance imaging in lactic acidosis

Knaap

Jakobs

Valk

1996

J of Inher Metab Disea

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“…33 Cerebral magnetic resonance imaging shows delayed myelination (progressive cortical atrophy) and hypodensity of the basal ganglia. 34,35 It has been suggested that brain injury due to MMAcidemia and PAcidemia is mainly related with the toxic effects exerted by the accumulating metabolites. In this context, it has been demonstrated that MMA causes impairment of brain mitochondrial energy metabolism, as well as alterations in the redox status and glutamatergic neurotransmission.…”

Section: Methylmalonic Acidemia and Propionic Acidemiamentioning

confidence: 99%

Potential Therapeutic Targets of the Endocannabinoid System in Common Neurodegenerative Disorders and Organic Acidemias

Aguilera

Santamarı́a

2017

Journal of Inborn Errors of Metabolism and Screening

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The cannabinoid chemistry is currently being addressed in preclinical approaches as a viable therapeutic alternative for the management of a wide range of signs, symptoms, and some biochemical hallmarks of many neurological pathologies (such as neuroinflammation and neurodegeneration). This clinical orientation is grounded on the consistent promissory profile that cannabinoid compounds have shown, and the great necessity of feasible options to undergo such disorders. Even though at early research stages, metabolic disorders are starting to rise as potential targets of cannabinoid alternatives; approaches in this term could, in turn, aim to modulate the endocannabinoid response for therapeutic purposes. This review recalls the pathologic scenarios endured in the course of neurological diseases of high occurrence and the most typical metabolic disorders, while discussing the neuroprotective mechanisms of cannabinoid agonists in the central nervous system, and the potential targets of the endocannabinoid system and metabolic disorders.

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Fumaric aciduria: Clinical and imaging features

et al. 2000

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Fumaric aciduria (fumaric acidemia, fumarase deficiency) is a rare inborn error of metabolism caused by deficient activity of fumarate hydratase, one of the constituent enzymes of the Krebs tricarboxylic acid cycle. We describe the clinical and imaging features of this disease arising from a consanguineous pedigree in 8 patients in the southwestern United States. Thirteen patients have been previously described in the medical literature. Our patients presented with an early infantile encephalopathy with profound developmental retardation and hypotonia, and most experienced seizures. Previously unreported characteristics described here include structural brain malformations, dysmorphic facial features, and neonatal polycythemia. Magnetic resonance imaging showed multiple abnormalities, including diffuse polymicrogyria, decreased cerebral white matter, large ventricles, and open opercula. Fumaric aciduria should be included in the differential diagnosis of inborn errors of metabolism that cause cerebral malformations and dysmorphic features. The possibility that inborn errors of energy metabolism may cause structural malformations deserves increased recognition. Ann Neurol 2000;47:583–588

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CT and MR of the brain in the diagnosis of organic acidemias Experiences from 107 patients

Cited by 80 publications

References 22 publications

Magnetic resonance imaging in lactic acidosis

Magnetic resonance imaging in lactic acidosis

Potential Therapeutic Targets of the Endocannabinoid System in Common Neurodegenerative Disorders and Organic Acidemias

Fumaric aciduria: Clinical and imaging features

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