ABSTRACT
A 5-year-old girl with previously well-controlled partial epilepsy secondary to focal cortical dysplasia (FCD) developed an increase in seizure frequency. Two months later, magnetic resonance showed a substantial alteration in lesion imaging characteristics. The lesion was resected. FCD was confirmed but inflammatory changes were also present. We propose that chronic inflammation was induced by unremitting seizure activity and suggest that inflammation may be implicated as a basis for alteration in the imaging characteristics of FCD.
Subject(s)
Cerebral Cortex/pathology , Encephalitis/etiology , Encephalitis/pathology , Magnetic Resonance Imaging , Seizures/complications , Seizures/pathology , Brain Neoplasms/diagnosis , Child, Preschool , Diagnosis, Differential , Female , HumansABSTRACT
Mitochondrial respiratory chain deficiencies can present as fulminant liver failure or disease, and the prognosis when associated with severe neonatal lactic acidosis is frequently guarded. We report the case of a neonate who presented with acute liver failure and fulminant lactic acidosis with profound complex IV deficiency documented in muscle and liver biopsies. The neonate subsequently experienced clinical resolution by 3 months of age, and was observed to have reversibility of the biochemical deficiency noted in muscle. This case illustrates that resolution of this severe neonatal phenotype does occur, of importance for accurate prognostic and genetic counseling for such affected neonates.
Subject(s)
Acidosis, Lactic/etiology , Brain Diseases/etiology , Cytochrome-c Oxidase Deficiency/complications , Liver Failure, Acute/etiology , Brain Diseases/pathology , Cytochrome-c Oxidase Deficiency/pathology , Female , Humans , Infant , Infant, Newborn , Magnetic Resonance Imaging , Muscle, Skeletal/pathology , PrognosisABSTRACT
BACKGROUND: Whole-body MR (WBMR) imaging allows the acquisition of images of the entire body in a matter of minutes. Its use has primarily been in the evaluation of possible metastases in the setting of a known primary tumour. OBJECTIVE: To document the value of WBMR imaging in ten children in whom this was added as an additional sequence when the primary diagnosis had not yet been made. MATERIALS AND METHODS: Ten children, age range 4 months-15 years (mean 7 years 4 months) had WBMR imaging after initial MR showed an abnormality that raised the possibility of systemic disease. Initial scanning was of the brain (n=1), spine (n=2), retroperitoneum (n=4), hips (n=1), femur (n=1) and wrist (n=1). RESULTS: Abnormalities were detected in eight patients. Two patients had acute lymphoblastic leukaemia, and another had an anaplastic lymphoma, unsuspected prior to the WBMR. Two patients had a previously undiagnosed neuroblastoma with bone marrow metastases. Two patients had Langerhans' cell histiocytosis. Another had multiple bone lesions due to cystic angiomatosis. CONCLUSIONS: WBMR imaging may be a useful additional sequence in children in whom a systemic and especially a bone marrow abnormality is suspected.
