"With the expansion of convexity subarachnoid spaces, the coursing bridging veins are susceptible to rupture with only minor trauma, and these patients may present with subdural haemorrhages. In this context, the radiologist needs to be familiar with the imaging findings of glutaric aciduria type I so that an erroneous diagnosis of non-accidental injury is not made. The findings described above are not specific in isolation, but a combination of them in a macrocephalic child with extrapyramidal symptoms highly suggestive, if not pathognomonic 6-7."
"T1: low signal"
"T2/FLAIR: high signal"
"GE/SWI: no susceptibility effect"
"DWI: restricted diffusion acutely"
"T1 C+ (Gd): no enhancement"
"MR spectroscopy: lactate peak within basal ganglia acutely 6"
"Early post-natal diagnosis should be sought as an early treatment prior to metabolic decompensation has the best chance of preventing neurological deterioration 3 (once a metabolic crisis occurs, basal ganglia involvement is inevitable). For this reason, all siblings of an affected child and all future pregnancies should be screened for the disease. Nevertheless, some cases are progressive despite all appropriate treatment 6."
"benign expansion of sub-arachnoid spaces (BESS): although prominent convexity spaces are common features, BESS is not associated with prominent CSF spaces in the sylvian fissures or anterior temporal poles. No parenchymal changes are seen either."
"GE/SWI: no susceptibility effect"
"causes of bilateral basal ganglia high T2 intensity: amino acidopathies, mitochondrial diseases, Wilson's disease, Zellweger syndrome"
"Presentation is variable, but typically affected neonates develop macrocephaly in the first few months of life 3, but are otherwise asymptomatic. Most present with acute encephalopathy following infection or acute catabolic state e.g. gastrointestinal disturbance. The initial presentation may therefore resemble viral encephalitis or acute disseminated encephalomyelitis (ADEM). Following the acute presentation; extrapyramidal symptoms develop which correlate on imaging with striatal involvement and subsequent necrosis 4."
"macrocephaly: few other leukodystrophies present with macrocephaly8 ; these include Alexander disease, Canavan disease, L-2-hydroxyglutaric aciduria and megalencephalic leukoencephalopathy with subcortical cysts"
"Routine blood, urine and CSF analysis for the metabolites mentioned above may be misleading, as excretion is only intermittent even during episodes of acute decompensation 3,6. Imaging therefore has an important role to play in these situations."