Serial diffusion-weighted magnetic resonance imaging in adult-onset citrullinaemia

Au, Wing Lok; Lim, Tchoyoson Choie Cheio; Seow, Dennis; Koh, Pei Lin; Loh, Ngai Kun; Lim, Maria S. F.; Tan, It-Koon; Yee, Woon Chee

doi:10.1016/s0022-510x(02)00439-2

Cited by 9 publications

(7 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Citrullinaemia due to argininosuccinate synthetase deficiency was diagnosed in 2 patients aged 25 and 52. 46,47 Serious symptoms in a Japanese adult patient with citrullinaemia was found to be triggered by drug administered for common cold. 48 When published reports on 28 patients were reviewed by these authors, 4 categories of probable trigger were found: stress, liver dysfunction, alcohol and drugs.…”

Section: Discussionmentioning

confidence: 99%

Study of Inherited Metabolic Disorders in Singapore – 13 Years Experience

Tan

Gajra

Lim

2006

Ann Acad Med Singap

View full text Add to dashboard Cite

Introduction: Recommended by the National Advisory Council of the Disabled, the Ministry of Health of Singapore supported a nationwide study of inherited metabolic disorders (IMDs). When the 5-year project ended, investigations were provided as a diagnostic service. This paper documents our 13-year experience. Materials and Methods: Patients with symptoms suggestive of an IMD were referred. Investigations on heparinised blood and/or urine included amino acid analysis using a Beckman 6300 Amino Acid Analyser, organic acids analysis using a Hewlett-Packard gas chromatography and mass spectrometry, mucopolysaccharides quantitative assay and high-resolution electrophoresis, sugars by thin-layer chromatography. Results: Of the 3656 patients studied from 1992 to 2005, IMDs were found in 127 (77 males; 50 females; age range, 1 day to 56 years). Their ethnic distribution was: 55.1% Chinese, 19.7% Malays, 11.0% Indians, 11.0% other races and 3.2% unknown. IMD diagnosed comprised 41 (32.3%) organic acidurias, 34 (26.8%) amino acidaemias/acidurias, 14 (11.0%) urea cycle defects, 15 (11.8%) mucopolysaccharidoses, 6 (4.7%) carbohydrate disorders and 17 (13.4%) others. Twenty-three (18.1%) cases were diagnosed during the neonatal period and 36 (28.3%) after the age of 13. Conclusion: Positive detection rate was 3.5% and 48 IMDs were found. Significant proportion of cases had late-onset IMDs. Early identification of IMDs permits timely management, genetic counselling and prenatal diagnosis.

show abstract

Section: Discussionmentioning

confidence: 99%

Study of Inherited Metabolic Disorders in Singapore – 13 Years Experience

Tan

Gajra

Lim

2006

Ann Acad Med Singap

View full text Add to dashboard Cite

show abstract

“…13 These findings, although reversible, 9,10 may result in cortical atrophy if not successfully treated, and may progress to involve the basal ganglia and the depths of the cortical sulci. 4 Diffusion-weighted images on MRI have been reported in only a few hyperammonemic patients, showing corresponding reduced apparent diffusion coefficiency in the affected areas, consistent with cytotoxic damage. 4,11,12 The characteristic regional variation in MRI lesions may represent areas of selective vulnerability, perhaps as a result of hypoperfusion secondary to hyperammonemia.…”

Section: Commentmentioning

confidence: 99%

“…Initial MRI showed bilateral, nonenhancing abnormalities of the globus pallidus, insular cortex, and cingulate gyrus on T2-weighted and diffusion-weighted MR images. 4 Findings from various laboratory investigations, including complete blood cell count, renal panel, thyroid function, toxicology, erythrocyte sedimentation rate, autoimmune screening, VDRL test, and human immunodeficiency virus (HIV) serology were negative. Liver panel showed transient mildly elevated serum transaminase levels but no viral hepatitis serologic findings.…”

Section: Casementioning

confidence: 99%

Magnetic Resonance Spectroscopy in Adult-Onset Citrullinemia

Wong

Au²,

Xu³

et al. 2007

Arch Neurol

Self Cite

View full text Add to dashboard Cite

Background: Adult-onset type II citrullinemia is an inborn error of urea cycle metabolism that can lead to hyperammonemic encephalopathy and coma. However, type II citrullinemia is rare outside Japan, and diagnosis and treatment can be delayed. Magnetic resonance spectroscopy may be a useful adjunct to magnetic resonance imaging, and has been applied to noninvasively study chemical metabolism in the human brain. Patients: We describe 2 patients with type II citrullinemia who presented with episodic postprandial somnolence and coma. Diffusion-weighted magnetic resonance imaging showed bilaterally symmetrical signal abnormalities of the insular cortex and cingulate gyrus. On magnetic resonance spectroscopy, glutamine and glutamate levels were elevated, and choline and myoinositol levels were decreased. The diagnosis of citrullinemia was confirmed based on elevated plasma ammonia and citrulline levels. Conclusion: Characteristic features found at the time of magnetic resonance imaging and magnetic resonance spectroscopy may be helpful for early diagnosis of type II citrullinemia in adult patients who present with hyperammonemic encephalopathy and coma.

show abstract

“…DW MR imaging showing corresponding reduced apparent diffusion co-effi cient consistent with cytotoxic damage has also been reported. [63][64][65] MRI fi ndings in hyperammonaemia including adult onset ctirullinaemia include striking involvement of the cingulate gyrus and the insular cortex bilaterally and symmetrically, together with basal ganglia (Fig. 6) and the depths of the cortical sulci, [62][63][64][65][66] and this pattern of abnormalities should trigger a biochemical survey for serum ammonia and hepatic function test.…”

Section: Inborn Error Of Metabolism: Citrullinaemiamentioning

confidence: 99%

Magnetic Resonance Imaging Findings in Bilateral Basal Ganglia Lesions

Lim

2009

Ann Acad Med Singap

View full text Add to dashboard Cite

Introduction: Radiologists may encounter bilaterally symmetrical abnormalities of the basal ganglia on magnetic resonance imaging (MRI), typically in the context of diffuse systemic, toxic or metabolic diseases. A systematic approach and broad knowledge of pathology causing this uncommon group of conditions would be useful. Materials and Methods: This review uses illustrative images to highlight metabolic conditions, such as Leigh’s syndrome, citrullinaemia, hypoglycaemia or carbon monoxide poisoning, as well as other causes of bilateral basal ganglia lesions such as osmotic myelinolysis, deep cerebral venous thrombosis and Creutzfeldt-Jakob disease. Results: Careful assessment of radiological findings outside the basal ganglia, such as involvement of the cortex, white matter, thalamus and pons, together with clinical correlation, may be helpful in narrowing the differential diagnosis, and directing further radiological, biochemical or genetic investigations. Recent advances in MR technology have resulted in newer techniques including diffusion-weighted (DW) MR imaging and MR spectroscopy (MRS); these may be helpful if appropriately used. Conclusions: Abnormal MRI findings in the basal ganglia should not be interpreted in isolation. A systematic approach including DW MR imaging, MRS, and a broad knowledge of diffuse systemic, toxic or metabolic diseases is helpful. Key Words: Basal ganglia, Metabolic disorders

show abstract

Serial diffusion-weighted magnetic resonance imaging in adult-onset citrullinaemia

Cited by 9 publications

References 8 publications

Study of Inherited Metabolic Disorders in Singapore – 13 Years Experience

Study of Inherited Metabolic Disorders in Singapore – 13 Years Experience

Magnetic Resonance Spectroscopy in Adult-Onset Citrullinemia

Magnetic Resonance Imaging Findings in Bilateral Basal Ganglia Lesions

Contact Info

Product

Resources

About