Glutaric aciduria type 1
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Findings
Mild atrophy of Frontal & Temporal lobes seen on both sides with prominence of adjacent sulci, subdural CSF spaces & sylvian fissures giving bat wing appearance.
Altered signal changes seen in periventricular white matter in frontoparietotemporal lobes appearing hyperintense on T2, IR & hypointense on T1 sequences with mild diffusion restriction. No obvious blooming.
Altered signal changes seen in periventricular white matter in frontoparietotemporal lobes appearing hyperintense on T2, IR & hypointense on T1 sequences with mild diffusion restriction. No obvious blooming.
Diagnosis
Frontotemporal atrophy with diffuse periventricular white matter signal changes as described - likely Glutaric aciduria type 1.
Dr. Ashraf Nadaf MD is a Consultant Radiologist from with experience of 1-2 year post-graduated from MD. Specialized in Reporting of X-RAYS , CT-SCAN , MRI , MAMMOGRAM cases with expertise in Neuro-imaging , Spine-imaging , Musculoskeletal , Joints , Pediatrics-imaging , Trauma , Stroke-imaging , Dental-imaging
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