Among the most frequent symptoms and signs are macrocrania
, eye anomalies, spasticity, developmental delay, ataxia-walking difficulties, headache, nausea, lethargy, seizures, cranial nerve palsy, and quadriparesis (8).
The three "signature" imaging findings of classic Glutaric Aciduria are: (1) Macrocrania
, (2) Bilateral widened ("open") sylvian fissures, and (3) Bilaterally symmetric basal ganglia lesions.
Benign extracerebral fluid collections: A cause of macrocrania
(4) Additional findings associated with a chronic increase in intracranial pressure include macrocrania
, splitting of the sutures, skull demineralisation and erosion, or enlargement of the sella turcica.