Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in mitochondrial dysfunction which leads to various mitochondrial disorders that may present with various neurologic and non-neurologic manifestations. Mutations in th...

A 66-year-old man was referred to our department for investigation prior to cardiac surgery on ASD. He had no complaints. On neurological examination, there were no abnormal symptoms. ASD was reconfirmed by ultrasonic cardiography and cardiac catheterization. Cardiac catheterization showed that the pulmonary-to-systemic flow ratio (Qp/Qs) was 2.49 and surgery was recommended. Because magnetic r...

Metachromatic leukodystrophy is a lysosomal sphingolipid storage disorder caused by the deficiency of arylsulfatase A. The disease is characterized by progressive demyelination, causing various neurologic symptoms. Since no naturally occurring animal model of the disease is available, we have generated arylsulfatase A-deficient mice. Deficient animals store the sphingolipid cerebroside-3-sulfat...

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Neurologic regression in a previously healthy child may be caused by metabolic or neurodegenerative disorders, many of which have no definitive treatment. We report a case of a previously healthy 8-year-old boy who presented with a month-long history of waxing and waning encephalopathy and acute regression, followed by seizures. Evaluation for a metabolic disorder revealed methylmalonic acidemi...

BACKGROUND Incontinentia pigmenti is a rare X-linked dominant syndrome caused by mutation in the NEMO/IKKgamma gene, and characterized by a spectrum of cutaneous, ocular, neurologic and dental abnormalities. In the eye, findings include retinal vascular non-perfusion, occasionally with traction retinal detachment, retinal fibrosis, and retinal pigment epithelium defects. These findings can rese...

The progressive myoclonus epilepsies (PMEs) comprise a group of rare and heterogeneous disorders defined by the combination of action myoclonus, epileptic seizures, and progressive neurologic deterioration. Neurologic deterioration may include progressive cognitive decline, ataxia, neuropathy, and myopathy. The gene defects for the most common forms of PME (Unverricht-Lundborg disease, Lafora d...

OBJECTIVE ATAD1 encodes Thorase, a mediator of α-amino-3-hydroxy-5-methylisoxazole-4-proprionate (AMPA) receptor recycling; in this work, we characterized the phenotype resulting from ATAD1 mutations and developed a targeted therapy in both mice and humans. METHODS Using exome sequencing, we identified a novel ATAD1 mutation (p.E276X) as the etiology of a devastating neurologic disorder chara...

BACKGROUND/AIMS Better antacid medications and the introduction of laparoscopy destabilize the indications for fundoplication. This study aims at raising a discussion among pediatric surgeons on these indications, modalities, and the results of this operation. MATERIALS AND METHODS A total of 252 refluxing children operated between 1992 and 2006 were divided into groups according to predomina...

Background and Objective: Chronic renal failure (CRF) may have many effects on nervous system and manifest as headache, seizure, dialysis disequilibrium syndrome, cerebral hemorrhage, hypertensive encephalopathy, uremic neuropathy, and some neurologic complications of transplantation. In this present study we investigate neurologic disorders in children with CRF. Methods: In this descriptive...