Resting-state functional MRI in pediatric epilepsy surgery.

Resting-state functional MRI (rs-fMRI) identifies resting-state networks (RSN) in the human brain by analyzing the connectivity of anatomically remote neuronal populations with synchronous low-frequency fluctuation in blood oxygen level-dependent (BOLD) signal. Network analysis has informed the understanding of functional brain organization and is beginning to reveal the impact that neurological disorders such as epilepsy may have on the developing cerebral cortex. Among children undergoing epilepsy surgery, mapping the brain networks supporting language, sensorimotor and visual function is a critical part of the preoperative evaluation. However, task-based functional mapping techniques are particularly difficult in immature patients and those with severe impairment. Functional mapping of RSN is a promising tool that may help circumvent the challenges of adequate cooperation and limited abilities of developmentally disabled children to perform age-appropriate functions. We discuss the current methodology of rs-fMRI in the pediatric population, review the literature of rs-fMRI in pediatric epilepsy and present our experience of using rs-fMRI for functional network mapping in children undergoing epilepsy surgery.

Pediatric acute transverse myelitis overview and differential diagnosis.

Acute transverse myelitis is a clinical syndrome affecting the spinal cord, which is characterized by acute onset of motor, sensory, and autonomic dysfunction. Approximately 20% of cases of acute transverse myelitis occur in children. This review summarizes the current published literature on acute transverse myelitis, including epidemiology, diagnostic criteria, pathogenesis, clinical presentation, clinical evaluation, and differential diagnosis. The article also summarizes the neuroimaging features, acute and chronic complications, treatments, and prognosis of acute transverse myelitis in the pediatric population. The initial evaluation centers on differentiation from other causes of myelopathy, and cases are further divided into idiopathic or disease-associated acute transverse myelitis. Correct diagnosis is important for treatment and prognosis. Treatment begins with intensive surveillance for acute life-threatening respiratory or autonomic complications. Immunomodulating therapy is recommended for noninfectious causes, using high-dose intravenous corticosteroids or plasma exchange. Other therapeutic options are also discussed. Prognosis depends on a number of factors, and evidence suggests that the majority of children have a good outcome. A small percentage of children diagnosed with acute transverse myelitis later are diagnosed with other demyelinating diseases, especially neuromyelitis optica, or multiple sclerosis. The most common long-term complications of acute transverse myelitis are urinary, motor, or sensory dysfunction.

Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22.

Cardiac malformations are commonly seen in individuals with terminal and interstitial deletions involving chromosome band 7p22. Although these malformations represent a significant cause of morbidity, the dosage-sensitive gene(s) that underlie these defects have yet to be identified. In this report, we describe a 16-month-old male with tetralogy of Fallot, bilateral second branchial arch remnants, and mild dysmorphic features. Array comparative genomic hybridization analysis revealed a less than 400 kb interstitial deletion on chromosome 7p22. The deletion was confirmed by real-time quantitative PCR and FISH analyses and was not detected in samples obtained from the child's parents. Molecular data from this de novo deletion, in combination with data from other isolated 7p deletions in the literature, can be used to define a less than 200 kb minimal deleted region for cardiac malformations on 7p22. This minimal deleted region spans all, or portions, of the coding regions of four known genes-MAD1L1, FTSJ2, NUDT1, and SNX8-and may include upstream regulatory elements of EIF3B. It is likely that one or more of these five genes, alone or in combination, plays an important, yet previously uncharacterized, role in cardiac development.