Parry-Romberg Syndrome with Intermittent Exotropia

Parry-Romberg syndrome, or progressive facial hemiatrophy, is a rare and acquired neurocutaneous disease of unknown etiology that is classically characterized by progressive and self=limited atrophy of the skin, subcutaneous tissues, and underlying bone structures. Ophthalmic involvement is reportedly not uncommon, and the most common ocular finding is enophthalmos. Here we report a 46=year=old woman with Parry=Romberg syndrome who presented with intermittent exotropia of the right eye. To the best of our knowledge, this is the first description of intermittent exotropia in a patient with Parry-Romberg syndrome.

Dopa-responsive Dystonia with a Novel Initiation Codon Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy

Dopa-responsive dystonia (DRD) is a clinical syndrome characterized by childhood-onset dystonia and a dramatic response to relatively low doses of levodopa. However, patients with DRD can be misdiagnosed as cerebral palsy or spastic diplegia due to phenotypic variation. Here we report a young woman with DRD who were severely disabled and misdiagnosed as cerebral palsy for over 10 yr. A small dose of levodopa restored wheelchair-bound state to normality. However, thoracolumbar scoliosis has remained as a sequel due to late detection of DRD. Genetic analysis by using PCR-direct sequencing revealed a novel initiation codon mutation (c.1A>T; p.Met1Leu) in GTP cyclohydrolase 1 (GCH1) gene. Although it is known that DRD can be misdiagnosed as cerebral palsy, this case reinforces the importance of differential diagnosis of DRD from cerebral palsy.

Acute Cerebral Infarction Following Takotsubo Cardiomyopathy Associated With Pneumothorax

Takotsubo cardiomyopathy is a transient condition characterized by acute left ventricular dysfunction without evidence of significant coronary artery obstruction. Takotsubo cardiomyopathy is not an uncommon complication of subarachnoid hemorrhage or acute cerebral infarction, but acute cerebral infarction is a rare thromboembolic complication in patients with Takotsubo cardiomyopathy. We present a patient with acute cerebral infarction following Takotsubo cardiomyopathy associated with pneumothorax.

Acute Zonal Occult Outer Retinopathy Mimicking Retrobulbar Optic Neuritis

A 27-year-old woman suffered a sudden visual disturbance in the right eye. The right eye had a visual acuity of 0.02 and a relative afferent pupillary defect. A visual-field examination revealed an inferotemporal field defect in the right eye. A fundus examination revealed no abnormalities that were responsible for the visual-field defect. Multifocal electroretinography showed decreased responses in the right eye at the corresponding area with the visual-field defect. She was diagnosed as acute zonal occult outer retinopathy.

Relationship between End-Tidal CO2 and Frequency of Interictal Spikes during Hyperventilation in Temporal Lobe Epilepsy / 대한간질학회지

PURPOSE: To determine whether the change of end-tidal pCO2 (ETCO2) level by hyperventilation evokes seizures or epileptiform discharges in temporal lobe epilepsy. METHODS: Twenty-four temporal lobe epilepsy patients were enrolled in this study. Hyperventilation was done for 5 min during EEG recording. We gathered data on ETCO2 levels during hyperventilation. The data included baseline ETCO2 (B-ETCO2), ETCO2 after 5 min of hyperventilation (5 min-ETCO2), the mean value of the ETCO2 (M-ETCO2), and the change in ETCO2 between baseline and the level after 5 min of hyperventilation (delta ETCO2). We counted the numbers of interictal spikes and considered the cases with more than 120% increments of the number during hyperventilation as the cases with the increased number of spikes. We compared the four variables between two groups, divided according to the increment to hyperventilation. RESULTS: Seizures were not induced by hyperventilation in all the cases. Thirteen of 24 patients were in the increment group. The M-ETCO2 was 33.0+3.3 mmHg (mean+SD) in the increment group and 29.4+5.3 in the no-increment group (p=0.064). The delta ETCO2 was 13.0+5.3 and 14.0+5.3, respectively (p=0.622). The 5 min-ETCO2 was 28.2+4.8 and 24.8+5.9, respectively (p=0.077). CONCLUSION: In this study, the frequency of interictal spikes was increased well by hyperventilation. The spike increments were not associated with the ETCO2 level or the change of that, but maybe with the individual susceptibility.

A Case of Simultaneous Disseminated Cerebral Infarction after Open Cardiac Massage

No abstract available.

A Case of Dystonic Tremor with Left Hemiparesis in Cervicomedullary Infarction

The development of involuntary movement by the lesion in the brainstem and spinal cord has been rarely reported. We report a 56-year-old man who suffered from bilateral dystonic tremor and left hemiparesis by an acute cervicomedullary infarction. The patient had acute infarcted lesion on the anterior-medial cervicomedullary junction located at the inferior olivary nucleus. Current study suggests that the involvement of inferior olivary nucleus in lower medulla could be a cause to develop dystonic tremor by cervicomedullary lesions.

A Case of Transverse Myelitis after Allogenic Bone Marrow Transplantation

No abstract available.

A Case of Cryptococcal Meningitis with Bilateral Internuclear Ophthalmoplegia and Ptosis

A 73-year-old woman with long-term steroid medication for arthralgia, suffered a sudden decrement of mental status, bilateral internuclear ophthalmoplegia and ptosis. T2-weighted MR images revealed high signals in the midbrain and both thalami. In cerebrospinal fluid studies, a test for cryptococcal antigen was positive and Cryptococcus neoformans was cultured. Bilateral internuclear ophthalmoplegia and ptosis may develop in cryptococcal meningitis from ischemic complications.