A Case of Generalized Cutaneous Piloleiomyomatosis / 대한피부과학회지

Piloleiomyoma originates from the arrector pili muscles. Multiple piloleiomyoma lesions may occur, especially on the trunk and extremities. However, multiple lesions throughout the body are rare. We present a case of generalized cutaneous piloleiomyomatosis in a 72-year-old man who had numerous lesions throughout his body. Clinically, the patient presented with fixed and non-tender reddish to brownish papules and nodules mainly on the back and extensors of extremities. Punch biopsy was performed, and the specimen was stained with hematoxylin and eosin, revealing interweaving fascicles of cigar-like spindle cells on the upper dermis. On immunohistochemical staining, tumor cells were positive for smooth muscle actin. Based on these features, we diagnosed the patient with generalized cutaneous piloleiomyomatosis.

Is the Presence of Headache Indispensable in Diagnosing Reversible Cerebral Vasoconstriction Syndrome?

No abstract available.

Spontaneous Intracranial Hypotension Complicated by Cerebral Venous Thrombosis Relieved by Epidural Blood Patch

Spontaneous intracranial hypotension (SIH) is characterized by orthostatic headache, diffuse dural thickening, and enhancement in magnetic resonance imaging. Cerebral venous thrombosis (CVT) has been reported to be a rare complication of SIH. There is no consensus in anticoagulation treatment of CVT secondarily caused by SIH. We report a female patient with SIH complicated by CVT and spontaneously regressed CVT not by anticoagulation but by epidural blood patch.

Frontal Sinusitis Presenting as Cluster-Like Headache

No abstract available.

Validation of MoCA-MMSE Conversion Scales in Korean Patients with Cognitive Impairments

BACKGROUND AND PURPOSE: Two conversion scales between the Mini-Mental State Examination (MMSE) and the Montreal Cognitive Assessment (MoCA) have been validated for Korean patients with Parkinson's disease. The aim of the present study was to validate these conversion scales for all patients with cognitive impairments regardless of dementia subtype. METHODS: Medical records of 323 subjects who completed both MMSE and MoCA on the same day were retrospectively reviewed. Mean, median, and root mean squared error (RMSE) of the difference between true and equivalent MMSE scores were calculated. Intraclass correlation coefficients (ICCs) between true and equivalent MMSE scores were also calculated. The validity of MoCA-MMSE conversion scales was evaluated according to educational level (low educated: ≤6 years; high educated: ≥7 years) and subtypes of cognitive impairment. RESULTS: The difference between true and equivalent MMSE scores had a median value of 0, a mean value of 0.19 according to the van Steenoven scale, a mean value of 0.57 according to the Lawton scale, RMSE value of 2.2 according to the van Steenoven scale, and RMSE value of 0.42 according to the Lawton scale. Additionally, ICCs between true and equivalent MMSE scores were 0.92 and 0.90 on van Steenovan and Lawton conversion scales, respectively. These results were maintained in subgroup analyses. CONCLUSIONS: Findings of the present study suggest that both van Steenovan and Lawton MoCA-MMSE conversion scales are applicable to transforming MoCA scores into MMSE scores in patients with cognitive impairments regardless of dementia subtype or educational level.

Is the Severity of Dilated Virchow-Robin Spaces Associated with Cognitive Dysfunction?

BACKGROUND AND PURPOSE: Dilated Virchow-Robin spaces (dVRS) are not uncommon findings in the normal brain, particularly in the old people, and have been largely regarded as benign lesions. However, there is accumulating evidence that dVRS may serve as an neuroimaging marker of small vessel disease and are associated with cognitive decline. We investigated whether the severity of dVRS would be associated with cognitive dysfunction by comparing the subjects with subjective memory impairment (SMI), mild cognitive impairment (MCI), and Alzheimer's disease (AD). We also examined whether there were differences in the degree of correlation between dVRS and magnetic resonance imaging (MRI) markers of small vessel disease among the three groups. METHODS: In this retrospective study, a total of 225 subjects were included: those with SMI (n=65), MCI (n=100), and AD (n=60). We rated the severity of dVRS using the axial MRI slice containing the greatest number of dVRS in the basal ganglia (dVRS-BG) and in the deep white matter (dVRS-WM), separately. We also assessed baseline characteristics including vascular risk factors and MRI markers of small vessel disease such as white matter hyperintensities (WMH), lacunar infarcts and microbleeds. RESULTS: A cumulative logit model revealed that the severity of cognitive dysfunction was associated with age (p<0.001), hypertension (p=0.006), diabetes mellitus (p=0.042), the severity of dVRS-BG (p=0.001), the severity of WMH (p=0.074) and the presence of lacunar infarcts (p<0.001) and microbleeds (p=0.003) in univariate analysis. However, after adjusting for other confounding variables, the severity of dVRS-BG was not a significant discriminating factor among subjects with SMI, MCI, and AD. Spearman's correlation analysis showed a trend that the correlation between the severity of dVRS-BG and the severity of WMH became more prominent in subjects with AD than in those with MCI or SMI (r=0.191 in SMI; r=0.284 in MCI; r=0.312 in AD), and the same is true of the severity of dVRS-BG and the number of lacunar infarcts. CONCLUSIONS: The severity of dVRS was associated with cognitive dysfunction, which appeared to be confounded by other well-known risk factors. The correlation between dVRS-BG and small vessel disease markers tended to be more significant with the advancement of cognitive impairment. These results suggest that severe dVRS may reflect cerebral small vessel disease and contribute to cognitive impairment.

Acute Ischemic Stroke Associated With Essential Thrombocythemia and JAK2 Mutation

No abstract available.

Cerebral Infarction Caused by a Tortuous Subclavian Artery: a Case Report / 신경중재치료의학

Tortuous arteries are common clinical observation. Although mild tortuosity is asymptomatic, severe tortuosity can lead to ischemic attack in several organs. With advances in imaging technology, an increasing number of tortuous vessels have been detected. The purpose of this report is to describe a case of acute cerebral infarction due to tortuous subclavian artery and to review the literature.

Can We Further Divide Amnestic Mild Cognitive Impairment Based on the Pattern of Memory Deficit?: A Preliminary Study

BACKGROUND: Mild cognitive impairment (MCI) is considered as a transitional state between normal aging and dementia and can be subdivided into amnestic vs. nonamnestic and single vs. multiple domains types. It is suggested that these clinical subtypes may have different underlying etiologies and outcomes. The amnestic MCI differs in the performance profile on memory testing: retention vs. retrieval deficit. Generally, the retention deficit is attributed to the medial temporal dysfunction and the retrieval deficit to the frontal dysfunction. We tried to determine whether there could be distinctive subtypes available even in the amnestic MCI. METHODS: Sixty-two patients with amnestic MCI-single domain were included in this retrospective study. They were divided into the retention- vs. the retrieval-deficit groups according to the results of Seoul Verbal Learning Test (SVLT). We compared baseline characteristics including vascular risk factors and neuropsychological profiles. We also measured the medial temporal atrophy (MTA) using a visual rating scale and assessed lacunar infarcts and white matter hyperintensities (WMH). RESULTS: Of 62 patients, 41 had retention deficit and 21 had retrieval deficit on SVLT. Among baseline clinical and demographic variables, only the frequency of hypertension was higher in the retrieval-deficit group (p=0.005). There were no differences in neuropsychological profiles between the two groups other than a lower immediate recall score in the retention-deficit group (p=0.012) and a higher recognition score in the retrieval-deficit group (p=0.001). Severities of WMH and MTA were not different between the two groups, nor was the number of lacunar infarcts and microbleeds. CONCLUSIONS: We could not find any significant difference except for the frequency of hypertension between the two subgroups of amnestic MCI, suggesting that there may be no further gain in subdividing a single domain amnestic MCI.

Can We Further Divide Amnestic Mild Cognitive Impairment Based on the Pattern of Memory Deficit?: A Preliminary Study

BACKGROUND: Mild cognitive impairment (MCI) is considered as a transitional state between normal aging and dementia and can be subdivided into amnestic vs. nonamnestic and single vs. multiple domains types. It is suggested that these clinical subtypes may have different underlying etiologies and outcomes. The amnestic MCI differs in the performance profile on memory testing: retention vs. retrieval deficit. Generally, the retention deficit is attributed to the medial temporal dysfunction and the retrieval deficit to the frontal dysfunction. We tried to determine whether there could be distinctive subtypes available even in the amnestic MCI. METHODS: Sixty-two patients with amnestic MCI-single domain were included in this retrospective study. They were divided into the retention- vs. the retrieval-deficit groups according to the results of Seoul Verbal Learning Test (SVLT). We compared baseline characteristics including vascular risk factors and neuropsychological profiles. We also measured the medial temporal atrophy (MTA) using a visual rating scale and assessed lacunar infarcts and white matter hyperintensities (WMH). RESULTS: Of 62 patients, 41 had retention deficit and 21 had retrieval deficit on SVLT. Among baseline clinical and demographic variables, only the frequency of hypertension was higher in the retrieval-deficit group (p=0.005). There were no differences in neuropsychological profiles between the two groups other than a lower immediate recall score in the retention-deficit group (p=0.012) and a higher recognition score in the retrieval-deficit group (p=0.001). Severities of WMH and MTA were not different between the two groups, nor was the number of lacunar infarcts and microbleeds. CONCLUSIONS: We could not find any significant difference except for the frequency of hypertension between the two subgroups of amnestic MCI, suggesting that there may be no further gain in subdividing a single domain amnestic MCI.

Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases

Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make the exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mtDNA mutations in 61 Korean unrelated families (or isolated patients) with MELAS or MERRF. In particular, the mtDNA sequences were completely determined for 49 patients. From the mutational analysis of mtDNA obtained from blood, 5 confirmed pathogenic mutations were identified in 17 families, and 4 unreported pathogenically suspected mutations were identified in 4 families. The m.3243A>G in the tRNA(Leu(UUR)) was predominantly observed in 10 MELAS families, and followed by m.8344A>G in the tRNA(Lys) of 4 MERRF families. Most pathogenic mutations showed heteroplasmy, and the rates were considerably different within the familial members. Patients with a higher rate of mutations showed a tendency of having more severe clinical phenotypes, but not in all cases. This study will be helpful for the molecular diagnosis of mitochondrial diseases, as well as establishment of mtDNA database in Koreans.

Peri-ictal Heart Rate Changes in Patients With Localization-Related Epilepsy

BACKGROUND: Epileptic seizures can be associated with changes in autonomic functions. This study evaluated heart rate (HR) changes at the transition from the preictal to the ictal state in patients with epileptic seizures, and investigated whether peri-ictal HR changes can help to predict electroencephalography (EEG) seizures prior to their onset. METHODS: We retrospectively studied 94 seizures in 33 patients who underwent video-EEG monitoring with scalp EEG and electrocardiography. The existence and initial timing of HR changes relative to the onset of EEG seizures were determined by analyzing consecutive RR-interval changes in 10-minute recordings. We evaluated the correlation between the peri-ictal HR changes and the type of localization-related epilepsy. RESULTS: Peri-ictal HR changes were documented in 70.2% (66/94) of all seizures, of which 62 were tachycardia (66.0%) and 4 were bradycardia (4.3%). Peri-ictal tachycardia occurred significantly with seizures as an ictal manifestation, more often in seizures with a right hemispheric onset than in those with a left hemispheric onset (77.4% vs. 50%, p=0.016). Peri-ictal HR changes were observed much earlier in seizures of mesial temporal lobe epilepsy (TLE) than in those of extratemporal lobe epilepsy (-54.4 s vs. -6.7 s, p<0.001). CONCLUSIONS: Peri-ictal HR changes were observed in 70.2% of seizures, 94% of which were tachycardia. These changes could be helpful in predicting seizure onset, especially in mesial TLE.

Predictive Factors of Neurologic Outcome in Patients With Hypoxic-Ischemic Encephalopathy After Cardiopulmonary Resuscitation

BACKGROUND: Cardiopulmonary resuscitation (CPR) can lead to various neurologic outcomes in patients with hypoxicischemic encephalopathy (HIE). This study investigated the usefulness of clinical markers and electroencephalography (EEG) in predicting the neurologic prognosis of HIE after CPR. METHODS: We reviewed the clinical findings of 51 patients with HIE, including the medical history, the duration from the onset of symptoms to the recovery of spontaneous circulation, Glasgow Coma Scale (GCS) and Full Outline of Unresponsiveness (FOUR) scores, and presence of seizure or status epilepticus. Patients were divided into three outcomes groups: death, persistent vegetative state, and recovering alertness and awareness. Digital EEG and visual and quantitative analyses were performed in each patient. For quantitative EEG (qEEG) analysis, we defined and compared the distance in the spatial band-power patterns and phase coherence patterns between healthy normal subjects and each patient. RESULTS: Patients with HIE showed a high mortality rate (54.9%, 28/51), and their neurologic prognosis was significantly related to the initial GCS and FOUR scores. In the qEEG analysis, patients' groups showed a prominent delta frequency band, and the healthy normal group presented a marked alpha predominance. As the severity decreased, the similarity in the spatial band-power pattern and functional connectivity pattern between normal subjects and patients increased. CONCLUSIONS: Low initial GCS and FOUR scores could be predictive of a poor neurologic prognosis in patients with HIE, and qEEG analysis might be a useful predictor of their neurologic outcomes.

Guillain-Barre Syndrome After Peripheral Blood Stem Cell Transplantation

Neuromuscular complications after hematopoietic stem cell transplantation are rarely reported. We report one male patient with ophthalmoplegia, flaccid paralysis, and hyporeflexia after peripheral blood stem cell transplantation (PBSCT). A cerebrospinal fluid study showed albuminocytologic dissociation, and nerve conduction studies revealed demyelinating polyneuropathies. Intravenous immunoglobulin was tried following a diagnosis of Guillain-Barre syndrome (GBS). After 11 months he was able to walk alone with a walker. This is probably the first report of GBS related to PBSCT in Korea.