Magnetic Resonance Spectroscopy in Adult-Onset Citrullinemia

Wong, Yee-Choon; Au, Wing Lok; Xu, Maosheng; Ye, Jieru; Lim, C. C. Tchoyoson

doi:10.1001/archneur.64.7.1034

Cited by 18 publications

(10 citation statements)

References 11 publications

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“…These findings have been attributed to the deposition of manganese (12) and may be reversible after liver transplantation (13). Characteristic MR imaging signs of acute brain damage may be present in patients with acute hyperammonemia, including cirrhotic patients with acute hepatic decompensation (in whom the ammonia concentration can suddenly increase fourfold) and patients with ornithine transcarbamylase deficiency (ie, inborn errors of metabolism such as citrullinemia, which result in accumulation of ammonia in the brain) (14). Acute hyperammonemia causes bilaterally symmetric swelling, T2 prolongation, and restricted diffusion in the basal ganglia, insular cortex, and cingulate gyrus ( Fig 6) (15,16).…”

Section: Liver Diseasementioning

confidence: 99%

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Differential Diagnosis for Bilateral Abnormalities of the Basal Ganglia and Thalamus

Hegde¹,

Lim²

2011

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The basal ganglia and thalamus are paired deep gray matter structures that may be involved by a wide variety of disease entities. The basal ganglia are highly metabolically active and are symmetrically affected in toxic poisoning, metabolic abnormalities, and neurodegeneration with brain iron accumulation. Both the basal ganglia and thalamus may be affected by other systemic or metabolic disease, degenerative disease, and vascular conditions. Focal flavivirus infections, toxoplasmosis, and primary central nervous system lymphoma may also involve both deep gray matter structures. The thalamus is more typically affected alone by focal conditions than by systemic disease. Radiologists may detect bilateral abnormalities of the basal ganglia and thalamus in different acute and chronic clinical situations, and although magnetic resonance (MR) imaging is the modality of choice for evaluation, the correct diagnosis can be made only by taking all relevant clinical and laboratory information into account. The neuroimaging diagnosis is influenced not only by detection of specific MR imaging features such as restricted diffusion and the presence of hemorrhage, but also by detection of abnormalities involving other parts of the brain, especially the cerebral cortex, brainstem, and white matter. Judicious use of confirmatory neuroimaging investigations, especially diffusion-weighted imaging, MR angiography, MR venography, and MR spectroscopy during the same examination, may help improve characterization of these abnormalities and help narrow the differential diagnosis.

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Section: Liver Diseasementioning

confidence: 99%

“…Acute hyperammonemia causes bilaterally symmetric swelling, T2 prolongation, and restricted diffusion in the basal ganglia, insular cortex, and cingulate gyrus ( Fig 6) (15,16). MR spectroscopic detection of the combined toxic metabolite glutamate-glutamine at short echo times in the acutely affected brain has been described (14).…”

Section: Liver Diseasementioning

confidence: 99%

Differential Diagnosis for Bilateral Abnormalities of the Basal Ganglia and Thalamus

Hegde¹,

Lim²

2011

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“…11 Hyperammonemic citrin deficiency or citrullinemia type II usually presents first in adulthood and, in patients who lacked the neonatal intrahepatic cholestasis presentation, diagnosis may be delayed and the end result may be death. 12 In an adult in a coma, it may be expected that a magnetic resonance image might be ordered before blood ammonia measurement. The magnetic resonance image may lead to the diagnosis of hyperammonemia.…”

Section: Commentmentioning

confidence: 99%

“…13,14 Magnetic resonance spectroscopy may provide evidence of increased glutamine levels. 12 The OTC gene has been found to exhibit enormous variation. More than 340 mutations have been identified in families in which there was clinical OTC deficiency.…”

Section: Commentmentioning

confidence: 99%

Fatal Initial Adult-Onset Presentation of Urea Cycle Defect

Lien¹,

Nyhan²,

Barshop³

2007

Arch Neurol

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Background: Ornithine transcarbamylase (OTC) deficiency presents most commonly with neonatal hyperammonemic coma. The gene is on the X chromosome, but the disease may manifest as a dominant trait. Mutations that lead to later-onset presentations may lead to life-threatening disease and may be unrecognized, particularly when the first clinical disease occurs in adulthood. Objective: To document the clinical and metabolic consequences of a mutation in the OTC gene. Design: Case reports. Setting: A metabolic/biochemical genetic referral service. Main Outcome Measures: Clinical and biochemical observations in 3 generations of a family. Results: A mutation in codon 208 of exon 6 in the OTC gene was found in a family in which the proband died of hyperammonemia at 52 years of age. Conclusions: Diagnosis of late-onset presentations of urea cycle defect in adults may be delayed. Heightened awareness could lead to effective treatment.

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“…Hyperammonaemic encephalopathy may result from chronic liver disease, and also from uncommon inborn errors of metabolism such as citrullinaemia [4] and ornithine transcarbamylase deficiency [5], and drugs such as valproic acid [6]. Recognizing the distinctive findings of acute hyperammonaemia on DWI can be very helpful for early diagnosis and treatment to prevent potentially irreversible neurological damage and death [6].…”

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confidence: 99%