Diagnosis of an Abnormality in Brain MRI

Seyed-Ahmad Hosseini*, MD; Mahmoud Reza Ashrafi, MD; Morteza Heidari, MD Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran Received: Sep 24, 2013; Accepted: Apr 13, 2014; First Online Available: Aug 12, 2014 A 5 year old boy was admitted due to insidious onset of fever, lethargy, malaise and oral lesions from 20 days ago and then lost consciousness and had two generalized tonic-clonic seizures after hospitalization in ICU. The cerebrospinal fluid (CSF) and blood evaluation was not remarkable except for triglyceride 243 mg/dl, cholesterol 264 mg/dl and lactate de-hydoganse 641 mg/dl, blood and CSF lactate was normal. Brain MRI showed diffuse bilateral basal ganglia involvement (Fig. 1). After discharge the patient had sequels of the disease as spasticity, loss of speech, generalized dystonia, and difficulty in sucking and swallowing. Brain MRI one month later showed that involvement of the basal ganglia was increased and clinical signs and symptoms had not changed. What is the best diagnosis? A) Bilateral striatal necrosis B) Wilson disease C) Leigh’s disease D) Glutaric aciduria type 1