Alexander disease(AD) is a rare fatal demyelinating disorder, caused by the mutation of glial fibrillary acidic protein(GFAP) gene. It is characterized by progressive demyelination of central nervous system, and the accumulation of Rosenthal fibers within astrocytes. It is divided into three group: infantile, juvenile, and adult. The infantile type is most common, has onset during the first 2 years of life. It shows macrocephaly and psychomotor delay, spastic paraparesis, seizure, and feeding problems, and usually dies within the first decade. The severity of the pathological changes depend on the age of onset. Radiological study revealed white matter loss, usually with frontal predominance. It is diagnosed by DNA analysis. We present case of a 10-month-old male patient with AD. He had focal seizures, demyelination in the frontal lobe in MRI, and the presence of a K86E mutaion in the GFAP gene, involving the replacement of adenosine with guanine.
Adenosine ; Adult ; Age of Onset ; Alexander Disease ; Astrocytes ; Central Nervous System ; Demyelinating Diseases ; DNA ; Frontal Lobe ; Guanine ; Humans ; Infant ; Macrocephaly ; Male ; Paraparesis, Spastic ; Seizures

PURPOSE: The anatomic relationships of the lower lid and soft tissue between younger and older groups were compared using CT scans for confirming the negative vector relationship in the Korean population. METHODS: The study sample was composed of 100 patients with no history of previous surgery and no ocular disease. Two groups of 100 patients, younger (less than 30 years of age) versus older (above 50 years of age), were studied using CT scans. The distances from the anterior cornea to the lower lid fat, inferior orbital rim and anterior cheek mass were measured at the midpupillary plane. RESULTS: The mean age of the younger group was 22.0 years (ages 14 through 29), compared with 60.6 years (ages 53 thru 73) for the older group. Comparison of mean linear measurements revealed an anterior movement of the lower lid fat between younger and older groups (-5.09 mm vs. -3.50 mm, respectively, P < 0.01). A regression of the inferior orbital rim (-6.93 mm vs. -8.98 mm, P < 0.01) and anterior cheek mass (3.07 mm vs. 0.43 mm, P < 0.01) was observed with age in the sagittal cross section view. CONCLUSIONS: The present study demonstrates the orbital remodeling according to age in the Korean population. Because the negative vector is more common in the elderly and portends a greater risk for lower lid complications after surgery, surgeons need to consider the orbital remodeling according to age before surgery.
Aged ; Cheek ; Cornea ; Humans ; Orbit

Schwannoma is a benign neoplasm of the Schwann cells of the neural sheath. Most schwannomas occur in the head and neck, and extremities and rarely in the retroperitoneal space. The differentiation of a schwannoma from other malignant tumor or benign tumor is very difficult on a preoperative examination with ultrasonography, computed tomography or magnetic resonance imaging. Furthermore, the lesion with increased fluorodeoxyglucose uptake in PET-CT cannot exclude malignant tumor. Therefore, this lesion needs surgical excision and a histological examination with immunohistochemical staining. We report a case of schwannoma occuring in the retroperitoneal space that incidentally discovered by PET-CT for health-check up. Pathologic confirmation by laparoscopic excision was done.
Aged ; Diagnosis, Differential ; Fluorodeoxyglucose F18/diagnostic use ; Humans ; Male ; Neurilemmoma/*diagnosis/pathology/surgery ; Positron-Emission Tomography ; Retroperitoneal Neoplasms/*diagnosis/pathology/surgery ; Tomography, X-Ray Computed

Allogeneic hematopoietic stem cell transplantation (HSCT) is considered the optimal curative treatment for acute myeloid leukemia (AML), but some patients develop bone marrow relapse due to remnant leukemia, and few patients develop extramedullary relapse without bone marrow relapse. Isolated extramedullary relapse (IMER) is defined as extramedullary relapse without bone marrow relapse. IMER has been reported in various sites, including the skin, soft tissue, and central nervous system(CNS). Isolated CNS relapse is relatively rare and is associated with poor prognosis due to the absence of an optimal treatment for it. Reported herein is a case involving an adult AML woman who suffered from isolated extramedullary relapse in the CNS after allogeneic HSCT. She was treated with intrathecal chemotherapy and whole-brain and spine radiotherapy, followed by systemic chemotherapy. She is currently well, with no evidence of leukemia recurrence for over six years.
Adult ; Bone Marrow ; Bone Marrow Transplantation ; Central Nervous System ; Female ; Hematopoietic Stem Cell Transplantation ; Hematopoietic Stem Cells ; Humans ; Leukemia ; Leukemia, Myeloid, Acute ; Meningeal Carcinomatosis ; Prognosis ; Recurrence ; Skin ; Spine

BACKGROUND: Hand eczema is one of the most common skin disorders and negatively affects quality of life. However, a large-scale multicenter study investigating the clinical features of patients with hand eczema has not yet been conducted in Korea. OBJECTIVE: To identify the prevalence of various hand diseases, which is defined as all cutaneous disease occurring in hands, and to investigate the clinical features of patients with hand eczema and the awareness about hand eczema in the general population and to compare the prevalence of hand eczema between health care providers and non-health care providers. METHODS: To estimate the prevalence of hand diseases, we analyzed the medical records of patients from 24 medical centers. Patients were assessed by online and offline questionnaires. A 1,000 from general population and 913 hand eczema patients answered the questionnaire, for a total of 1,913 subjects. RESULTS: The most common hand disease was irritant contact dermatitis. In an online survey, the lifetime prevalence of hand eczema was 31.2%. Hand eczema was more likely to occur in females (66.0%) and younger (20~39 years, 53.9%). Health care providers and housewives were the occupations most frequently associated with hand eczema. Winter (33.6%) was the most common season which people experienced aggravation. The 63.0% and 67.0% answered that hand eczema hinders their personal relationship and negatively affects daily living activities, respectively. CONCLUSION: Hand eczema is a very common disease and hinders the quality of life. The appropriate identification of hand eczema is necessary to implement effective and efficient treatment.
Activities of Daily Living ; Dermatitis, Contact ; Eczema* ; Female ; Hand* ; Health Personnel ; Humans ; Korea* ; Medical Records ; Occupations ; Prevalence ; Quality of Life ; Seasons ; Skin ; Surveys and Questionnaires