No abstract available.
Child* ; Humans

Astasia-abasia refers to the inability to stand or walk despite possessing good motor strength and conserved voluntary coordination. Although it is usually regarded as a psychogenic disorder, organic causes have been reported. Herein we describe a patient who presented with alcohol-induced episodic astasia-abasia. Interestingly, SPECT performed during an episode showed hyperperfusion in the dorsal brainstem and subthalamic region. These areas roughly coincide with the mesencephalic locomotor region and subthalamic locomotor region, respectively, and it is conceivable that abnormal neural activity in these areas is related to the symptoms in our patient.

The field of renal transplantation has undergone continual evolution to become the standard treatment for patients with end-stage renal diseases. The attempts to improve organ shortage, studies for clinical and basic science, empirical trial of new immunosuppressive drugs and technical challenges are very important for the development of renal transplantation medicine and improved patient outcome. This review will focus on the recent advancement and current hot issues of living donor renal transplantation worldwide.
Humans ; Kidney Transplantation* ; Living Donors*

Although most of the known pathogenic mutations in the progranulin gene (PGRN) are null mutations leading to a reduction in the serum PGRN protein levels, missense mutations also have been identifi ed in patients with frontotemporal lobar degeneration and in patients with Alzheimer disease. Among these, p.R564C mutation was identifi ed in a late-onset AD patient with a reduced serum PGRN level. However, recently, we found the p.R564C mutation in a healthy control subject raising doubts whether this is a pathogenic mutation. In this report, we measured the serum PGRN levels in 20 subjects without the p.R564C mutation and in one subject with the p.R564C mutation, to determine whether the p.R564C mutation is associated with reduced serum PGRN levels. We found that the serum PGRN level in the subject with the p.R564C mutation was not reduced compared to the subjects without the p.R564C mutation. Our result reiterates that p.R564C may not be a pathogenic mutation.

Fulminant hepatic failure (FHF) is a rare but fatal disease with a 40%-80% mortality, often requiring liver transplantation, which is hard to perform in children. A therapeutic intervention alternative to liver transplantation is an extracorporeal artificial liver support system. Molecular Adsorbent Recirculation Systems® (MARS) has emerged as a bridge therapy for adult FHF, whereas in pediatric FHF, there have been a small number of cases of implementing MARS. Recently, we witnessed the recovery of 2 teenagers with FHFs caused by acetaminophen and a diet aid. Both patients were treated uneventfully, with early use of MARS. These cases suggest that early use of MARS may be a promising therapeutic intervention in pediatric drug-induced FHF.

No abstract available.
Nevus, Intradermal

We report a patient with multiple simultaneous embolic infarctions with localized hemorrhagic conversion. A 75-year-old male patient had several silent microbleeds (SMBs) exclusively in the cerebral cortex, and underwent angioplasty and stenting for bilateral carotid stenosis. He subsequently experienced embolic infarctions in the cortex and the striatum: the cortical infarction, where an SMB had been present, showed hemorrhagic conversion, whereas the striatal infarction did not. This case suggests that SMBs are indicators of an underlying hemorrhage-prone state.
Aged ; Angioplasty ; Carotid Stenosis ; Cerebral Cortex ; Hemorrhage ; Humans ; Infarction* ; Male ; Stents

We report a patient with multiple simultaneous embolic infarctions with localized hemorrhagic conversion. A 75-year-old male patient had several silent microbleeds (SMBs) exclusively in the cerebral cortex, and underwent angioplasty and stenting for bilateral carotid stenosis. He subsequently experienced embolic infarctions in the cortex and the striatum: the cortical infarction, where an SMB had been present, showed hemorrhagic conversion, whereas the striatal infarction did not. This case suggests that SMBs are indicators of an underlying hemorrhage-prone state.
Aged ; Angioplasty ; Carotid Stenosis ; Cerebral Cortex ; Hemorrhage ; Humans ; Infarction* ; Male ; Stents

No abstract available.
Nevus*

We present the first case report of fragile X-associated tremor ataxia syndrome (FXTAS) in the Republic of Korea. A 75-year-old male developed progressive gait ataxia, parkinsonism, and a mood disorder. Magnetic resonance imaging revealed T2 high signal intensity within the middle cerebellar peduncles. Analysis of the fragile X mental retardation 1 gene revealed a CGG trinucleotide repeat number of 136. FXTAS should be considered when a patient has atypical parkinsonism, cerebellar ataxia, and specific MRI abnormalities.