Glutaric Acidurea type 1
Loading 
Findings
Macrocephaly, expansion of subarachnoid convexity spaces, and wide CSF spaces anterior to the temporal poles and in the Sylvian fissures.
Bilateral basal ganglia abnormalities with initial swelling that subsequently progresses to atrophy and necrosis. Delay in myelination is a further finding in severely affected infants.
MR spectroscopy: Inversion of lactate peak within basal ganglia with mild elevation of choline , Cr1 and Cr2.
In Acute case restriction in basal ganglia, white matter and marked lactate peak noted
Bilateral basal ganglia abnormalities with initial swelling that subsequently progresses to atrophy and necrosis. Delay in myelination is a further finding in severely affected infants.
MR spectroscopy: Inversion of lactate peak within basal ganglia with mild elevation of choline , Cr1 and Cr2.
In Acute case restriction in basal ganglia, white matter and marked lactate peak noted
Diagnosis
Glutaric Acidurea type 1
Dr. Syed Sajjad Ali Hashmi DNB , DMRD is a Consultant Radiologist from Kashipur with experience of 9-10 years post-graduated from DMRD - Govt Medical College Aurangabad, DNB Radiology - Breach Candy Hospital Trust, Aurangabad. Specialized in Reporting of CT-SCAN , MRI cases with expertise in Neuro-imaging , Spine-imaging , Musculoskeletal , Joints , Trauma , Stroke-imaging
Are you looking for Paid consultation or Second Opinion from Expert Radiologist ?
Consult Dr. Syed Sajjad Ali Hashmi
Page Visits : 119