Magnetic resonance imaging demonstrated abnormal signal intensity with swelling in the basal ganglia during acute crises (n 13/13) and atrophy of the basal ganglia and necrosis during follow up (n 13/13). [ncbi.nlm.nih.gov]

A : This image shows high T2 signal and swelling of substantia nigra (at midbrain), and signal abnormality with swelling of right inferior frontal gyrus in the cortical and subcortical region. [ojrd.biomedcentral.com]

Using medical imaging, generalized swelling as well as specific areas of damage (lesions) in the brain can often be seen, including in the basal ganglia. [ghr.nlm.nih.gov]

PMID: 24260777 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion [invitae.com]

The clinical features included sub acute encephalopathy, ataxia (n 18), seizures (n 13) dystonia (n 12) ,dysarthria (n 9), quadriparesis and hyperreflexia (n 9). [ncbi.nlm.nih.gov]

[…] affect movement, and can include involuntary tensing of various muscles (dystonia), muscle rigidity, muscle weakness on one or both sides of the body (hemiparesis or quadriparesis), problems coordinating movements (ataxia), and exaggerated reflexes (hyperreflexia [ghr.nlm.nih.gov]

Seizures occurred in 13 of the 18 (72%) patients, and the seizures were mainly partial or generalized tonic-clonic seizures. [ojrd.biomedcentral.com]

Basal Ganglia Hemorrhage Bleeding within the subcortical regions of cerebral hemispheres (BASAL GANGLIA). It is often associated with HYPERTENSION or ARTERIOVENOUS MALFORMATIONS. [bioportfolio.com]

tract signs (quadriparesis, hyperreflexia) typically in a child age 3-10 years and usually preceded by febrile illness or some other stress. [ncbi.nlm.nih.gov]

Seizures are mainly simple partial or generalized seizures and are easily controlled with antiepileptic drugs. Infantile spasms also occur [ Yamada et al 2010 ]. [ncbi.nlm.nih.gov]