Neuro_MR_Brain: 3 F, spastic quadriplegia, developmental delay, seizures.

MRI AND MRA BRAIN WITHOUT CONTRAST:

CLINICAL HISTORY: 3-year-old girl with history of spastic quadriplegia, global developmental delay, history of generalized tonic-clonic seizure one year ago, now presenting with focal seizure. Bilateral putaminal hypodensities on CT. For further evaluation CT finding and seizures.

FINDINGS:

BRAIN:

There is restricted diffusion involving the posterior lateral putamina bilaterally, right greater than left with significantly increased T2 signal and increased ASL perfusion. No hemorrhage or mass effect. There is abnormal T2/FLAIR signal in the medial bifrontal subcortical white matter, periventricular white matter, bilateral thalami, and in the periaqueductal gray matter.

The ventricles are preserved in size and configuration.  

There is no mass or hemorrhage.

No abnormal extracerebral collections are present.

INTRACRANIAL ANGIOGRAM:

There is tortuosity of the visualized distal cervical internal carotid arteries, with irregularity and narrowing of the vertical petrous segments bilaterally. No flow-limiting stenosis or irregularity within the intracranial vasculature. Aneurysm or vascular malformation. 

SPECTROSCOPY:

Spectroscopy is somewhat limited by noisy background, NAA, choline, creatine peaks appear within normal limits, no obvious lactate peak.

IMPRESSION:

1.  Restricted diffusion in the bilateral putamina. Abnormal signal in the periventricular and subcortical white matter of the cerebral hemisphere, thalami, and in the periaqueductal gray matter of the midbrain. Findings are most compatible with primary or secondary energy failure, consider underlying metabolic etiology such as a mitochondrial disorder (Leigh's disease).