MRI in a Woman with Late Onset Ornithine Transcarbamylase Deficiency

Manto, A.; De Gennaro, A.; Serino, A.; Cozzolino, A.; Colasante, A. G.; La Rocca, M. R.
August 2010
Neuroradiology Journal;Aug2010, Vol. 23 Issue 4, p398
Academic Journal
We describe the brain MR imaging findings of a woman who developed neurologic symptoms due to an acute hyperammonemic encephalopathy resulting from late onset ornithine transcarbamylase deficiency (OCTD). MR images revealed injury (hyperin tense foci on long TR images) to the subcortical white matter of the left precentral and supramarginal gyrus and in the left frontal lobe. These findings presumably reflect the distribution of brain injury from hypoperfusion secondary to severe hyperammonemia. If MR findings suggesting hypoperfusion are detected in a patient with hyperammonemia, the diagnosis of OCTD should be considered. Knowledge of the physiopathological mechanisms of OTCD and of MR imaging of hyperammonemic injury may help expedite diagnosis and treatment and prevent the exitus of patients with this genetic disorder.


Related Articles

  • Migraines May Permanently Change–Even Harm–the Brain. Fox, Cynthia // Bioscience Technology;9/16/2013, p1 

    The article reports on a study which reveals that migraines may permanently change and can potentially harm the brain. The researchers explain that migraines linked to the white matter abnormalities or brain volume deficits can potentially alter the structure of the brain. They recommend that...

  • Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. Joss, Shelagh; Ghazawy, Sam; Tomkins, Susan; Ahmed, Mushtaq; Bradbury, John; Sheridan, Eamonn // European Journal of Pediatrics;Mar2008, Vol. 167 Issue 3, p341 

    Individuals with oculodentodigital dysplasia (ODDD) have a characteristic facial appearance and variable involvement of the eyes, teeth and fingers. Gutmann et al. (Am J Med Genet 41:18, 1990) drew attention to neurological symptoms as a feature in a proportion of individuals with ODDD and...

  • Extreme fenestration of the right vertebral artery: magnetic resonance angiographic demonstration. Uchino, A.; Sawada, A.; Takase, Y.; Kudo, S. // European Radiology;Dec2002 Supplement 3, Vol. 12, pS32 

    The authors describe an extreme fenestration of the right vertebral artery. This anomaly was found incidentally in a female patient undergoing MR imaging and MR angiography evaluation for severe dizziness and headache. Magnetic resonance angiography showed that the right posterior inferior...

  • Pleomorphic xanthoastrocytoma: MR imaging findings in 19 patients. Shenping Yu; Li He; Xiaozhao Zhuang; Boning Luo // Acta Radiologica;Mar2011, Vol. 52 Issue 2, p223 

    Background: Pleomorphic xanthoastrocytoma (PXA) is a rare and special type of astrocytoma which occurs in childhood and adolescence, and usually with a favorable prognosis. Since its initial description, PXA cases have been reported infrequently in the literature, mostly as single cases or small...

  • Neurogenic stuttering: Further corroboration of site of lesion. Heuer, Reinhardt J.; Sataloft, Robert Thayer; Mandel, Steven; Trayers, Nancy // ENT: Ear, Nose & Throat Journal;Mar1996, Vol. 75 Issue 3, p161 

    Discusses three cases of neurogenic stuttering in which the site(s) of brain lesion(s) are documented by computerized tomography (CT), magnetic resonance imaging (MRI) and SPECT. Patient speech histories; Relevant tests and findings; Implications.

  • Mild Traumatic Brain Injury Episodic Symptoms and Treatment. Jokel, Regina // Canadian Journal of Speech-Language Pathology & Audiology;Spring2012, Vol. 36 Issue 1, p58 

    The article reviews the book "Mild Traumatic Brain Injury Episodic Symptoms and Treatment" by Richard J. Roberts and Mary Ann Roberts.

  • Fact Sheet: Traumatic Brain Injury.  // Pro Publica;9/ 5/2010, p25 

    The article offers information on traumatic brain injury (TBI). TBI is a sudden trauma to the brain caused by force. A severe TBI can leave a person almost incapable of functioning. The brain injuries sustained by U.S. soldiers serving in Iraq and Afghanistan are most often caused by explosives....

  • Choroid plexus cyst of the third ventricle presenting as acute triventriculomegaly. Rajeev Kariyattil; Dilip Panikar // Child's Nervous System;Jul2008, Vol. 24 Issue 7, p875 

    Abstract Introduction  Cystic lesions in and around the third ventricle have been known to cause intermittent and acute obstruction of the foramen of Monroe with rapid onset symptoms. Most of these lesions are seen on routine investigations, whereas some are not so obvious resulting in...

  • ON THE CASE. Pawar, Rahul V.; Giordano, Kris // Radiology Today;Apr2012, Vol. 13 Issue 4, p12 

    A case study of an 85 year old woman with progressive headaches and focal neurological deficits is presented. She was diagnosed with glioblastoma mulitformae (GBM) on evaluation with dynamic susceptibility contrast perfusion magnetic resonance imaging. Glioblastoma is the most aggressive and...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics