Abstract
Specific Imaging Findings MR findings in glutaric aciduria type 1 (GA-1) in addition to macrocephaly include characteristic bilateral small anterior poles of temporal lobes with poor opercularization and widened sylvian fissure, subdural collections, and basal ganglia lesions. Central gray matter abnormalities variably include symmetric T2 hyperintensities and volume loss of the basal ganglia and dentate nucleus, with thalamus occasionally involved. In acutely affected areas there may be reduced diffusivity and MRS reveals elevated lactate with decreased levels of NAA. Abnormalities are often seen within the midbrain with involvement of white matter structures, tegmentum and substantia nigra and sparing of red nuclei, producing the “giant panda face” sign. The white matter may be primarily involved in GA-1, characteristically in the periven-tricular regions with sparing of the U-fibers and optic radiations. Diffusion may be persistently reduced with decreased ADC values within the lesions. Additional findings include subependymal nodules and pseudocysts. Pertinent Clinical Information. The disease has a variable clinical presentation and severity. Patients may remain asymptomatic or mildly affected, with macrocephaly only, or they may present with encephalopathic crises in infancy or childhood after an initially normal development. These episodic crises typically occur following a trigger event (infection, immunization, surgery) and are characterized by hypotonia, spasticity, dystonia, rigidity, orofacial dyskinesia, seizures, opisthotonic posturing, decreased consciousness, and coma. Recovery is slow and often incomplete.
| Original language | English |
|---|---|
| Title of host publication | Brain Imaging with MRI and CT: An Image Pattern Approach |
| Publisher | Cambridge University Press |
| Pages | 33-34 |
| Number of pages | 2 |
| ISBN (Print) | 9781139030854, 9780521119443 |
| DOIs | |
| Publication status | Published - Jan 1 2010 |
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ASJC Scopus subject areas
- Medicine(all)
Cite this
Glutaric aciduria type 1. / Severino, Mariasavina.
Brain Imaging with MRI and CT: An Image Pattern Approach. Cambridge University Press, 2010. p. 33-34.Research output: Chapter in Book/Report/Conference proceeding › Chapter
}
TY - CHAP
T1 - Glutaric aciduria type 1
AU - Severino, Mariasavina
PY - 2010/1/1
Y1 - 2010/1/1
N2 - Specific Imaging Findings MR findings in glutaric aciduria type 1 (GA-1) in addition to macrocephaly include characteristic bilateral small anterior poles of temporal lobes with poor opercularization and widened sylvian fissure, subdural collections, and basal ganglia lesions. Central gray matter abnormalities variably include symmetric T2 hyperintensities and volume loss of the basal ganglia and dentate nucleus, with thalamus occasionally involved. In acutely affected areas there may be reduced diffusivity and MRS reveals elevated lactate with decreased levels of NAA. Abnormalities are often seen within the midbrain with involvement of white matter structures, tegmentum and substantia nigra and sparing of red nuclei, producing the “giant panda face” sign. The white matter may be primarily involved in GA-1, characteristically in the periven-tricular regions with sparing of the U-fibers and optic radiations. Diffusion may be persistently reduced with decreased ADC values within the lesions. Additional findings include subependymal nodules and pseudocysts. Pertinent Clinical Information. The disease has a variable clinical presentation and severity. Patients may remain asymptomatic or mildly affected, with macrocephaly only, or they may present with encephalopathic crises in infancy or childhood after an initially normal development. These episodic crises typically occur following a trigger event (infection, immunization, surgery) and are characterized by hypotonia, spasticity, dystonia, rigidity, orofacial dyskinesia, seizures, opisthotonic posturing, decreased consciousness, and coma. Recovery is slow and often incomplete.
AB - Specific Imaging Findings MR findings in glutaric aciduria type 1 (GA-1) in addition to macrocephaly include characteristic bilateral small anterior poles of temporal lobes with poor opercularization and widened sylvian fissure, subdural collections, and basal ganglia lesions. Central gray matter abnormalities variably include symmetric T2 hyperintensities and volume loss of the basal ganglia and dentate nucleus, with thalamus occasionally involved. In acutely affected areas there may be reduced diffusivity and MRS reveals elevated lactate with decreased levels of NAA. Abnormalities are often seen within the midbrain with involvement of white matter structures, tegmentum and substantia nigra and sparing of red nuclei, producing the “giant panda face” sign. The white matter may be primarily involved in GA-1, characteristically in the periven-tricular regions with sparing of the U-fibers and optic radiations. Diffusion may be persistently reduced with decreased ADC values within the lesions. Additional findings include subependymal nodules and pseudocysts. Pertinent Clinical Information. The disease has a variable clinical presentation and severity. Patients may remain asymptomatic or mildly affected, with macrocephaly only, or they may present with encephalopathic crises in infancy or childhood after an initially normal development. These episodic crises typically occur following a trigger event (infection, immunization, surgery) and are characterized by hypotonia, spasticity, dystonia, rigidity, orofacial dyskinesia, seizures, opisthotonic posturing, decreased consciousness, and coma. Recovery is slow and often incomplete.
UR - http://www.scopus.com/inward/record.url?scp=84924666844&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84924666844&partnerID=8YFLogxK
U2 - 10.1017/CBO9781139030854.017
DO - 10.1017/CBO9781139030854.017
M3 - Chapter
AN - SCOPUS:84924666844
SN - 9781139030854
SN - 9780521119443
SP - 33
EP - 34
BT - Brain Imaging with MRI and CT: An Image Pattern Approach
PB - Cambridge University Press
ER -