mercoledì 23 luglio 2008

Glutaric aciduria type I








Findings

There is diffuse cerebral volume loss (atrophy) with dilated bilateral Sylvian fissures and old bilateral putamenal infarcts. In addition, there is increased T2 signal intensity throughout the subcortical white matter without restricted diffusion.

Differential diagnosis:
- Remote trauma or non-accidental trauma
- Glutaric aciduria type I
- Bilateral middle cranial fossa arachnoid cysts
- Mucopolysaccharidoses (types I-VII, Hurler)
- Canavan disease


Diagnosis: Glutaric aciduria type I


Key points

Glutaric aciduria type I (GA1) is an inborn error of metabolism - a mitochondrial disorder resulting in glutaryl-coenzyme A dehydrogenase (GCDH) deficiency. CGDH is involved in the metabolism of lysine and tryptophan.
Patients suffer from encephalopathic crises and experience severe dystonic-dyskinetic movements.
Patients initially develop normally. Most will become severely disabled. 20% die before age 5.
Early treatment can prevent or lessen symptoms.
Common imaging features include widened operculae (frontotemporal atrophy) – so called "bat wing" configuration of the Sylvian fissures. Also common are bright basal galglia and diffuse white matter gliosis.
Can mimic child abuse. Marked cerebral atrophy predisposes these children to bridging vein injuries resulting in subdural hematomas from minor trauma.


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