We report a patient who had been initially diagnosed as a myelodysplastic syndrome in 1998 presenting purpuric patches on the left arm that started to develop about a year prior. The purpuric lesions were diagnosed as leukemia cutis by skin biopsy. Her subsequent bone marrow biopsy showed progression into an atypical chronic myeloid leukemia with increased numbers of leukocytes in the peripheral blood. Leukemia cutis typically is regarded as a sign of progression of disease or a manifestation of recurrent disease in treated patients with an established diagnosis of leukemia. We suggest that the skin lesion in this patient could have been a sign of con-version into atypical chronic myeloid leukemia.
Arm ; Biopsy ; Bone Marrow ; Diagnosis ; Humans ; Leukemia* ; Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative* ; Leukocytes ; Myelodysplastic Syndromes* ; Skin

No abstract available.
Appendicitis* ; Child* ; Humans

No abstract available.
Facial Paralysis* ; Humans ; Malocclusion*

Persistent trigeminal artery is an embryonic remnant of the anastomotic channel linking the internal carotid artery and the basilar artery. Cases of vertebrobasilar insufficiency caused by the persistent trigeminal artery with internal carotid artery stenosis has been described previously, but vertebrobasilar insufficiency entirely due to in situ stenosis of the persistent trigeminal artery has not been reported. A 71-year-old man presented with frequent dizzy episodes. The brain MRI showed no parenchymal lesions. MR angiography showed poor visualization of vertebrobasilar system. He was diagnosed as having vertebrobasilar insufficiency. Cerebral angiography revealed that there was complete occlusion at the vertebrobasilar junction, and the basilar artery was supplied by the persistent trigeminal artery which had severe stenosis at its origin. There was no stenosis of the internal carotid artery of both sides. We believe that this is the first report of vertebrobasilar insufficiency due to stenosed persistent trigeminal artery, without internal carotid artery stenosis.

No abstract available.
Chorion* ; Chorionic Villi Sampling* ; Chorionic Villi* ; Female ; Pregnancy

A 49-year-old woman with anemia who developed headache and seizure after blood transfusion was diagnosed with posterior reversible encephalopathy syndrome (PRES). Magnetic resonance imaging showed typical PRES findings including lesions in bilateral parieto-occipital subcortical white matter and overlying cortex. Only a few cases of PRES after transfusion have been reported and this case is unique in that there was a latent period between infusion and development of PRES. We postulate that rapid change of hemoglobin level may disrupt cerebral autoregulation and result in delayed PRES. We suggest that neurological symptoms after blood transfusion should be appropriately investigated.

The CYP11A1 gene encodes for the cholesterol side-chain cleavage enzyme (P450scc), which initiates steroid hormone biosynthesis. Defective P450scc activity results in severe glucocorticoid and mineralocorticoid deficiencies. We describe a case of P450scc deficiency due to a novel homozygous CYP11A1 variant inherited from the mother with a possibility of uniparental disomy (UPD). The patient was a female, had no family history of endocrine disease, and showed adrenal insufficiency at 13 days of age. Hormonal analysis with an adrenocorticotropic hormone stimulation test showed both glucocorticoid and mineralocorticoid deficiencies, presumed to be a defect of the early stage of steroidogenesis. Exome sequencing reported a novel homozygous frameshift variant of CYP11A1 (c.284_285del, p.Asn95Serfs*10), which was inherited from the mother.Additionally, homozygosity in 15q22.31q26.2, which included CYP11A1, was identified using a chromosomal microarray. It was suggested that the possibility of maternal UPD was involved as the cause of a P450scc deficiency by unmasking the maternally derived affected allele. To our understanding, P450scc deficiency associated with UPD encompassing CYP11A1 had not been reported in Korea before. Genetic analysis can help diagnose rare causes of primary adrenal insufficiency, including P450scc deficiency.

Letterer-Siwe disease occurred in a 3 year 7 month old male child showing severe emaciation, hepatosplenomegaly, otitis media, hemorrhagic and impetiginous crusted patches on the body, and seborrheic dermatitis like skin rashes in the scalp. Also showed are severe anemia, thrombocytopenia, bronchopneumonia and multiple bony defects in skull. The child expired in a month after admission.
Anemia ; Bronchopneumonia ; Child ; Dermatitis, Seborrheic ; Emaciation ; Exanthema ; Histiocytosis, Langerhans-Cell* ; Humans ; Infant ; Male ; Otitis Media ; Scalp ; Skull ; Thrombocytopenia

OBJECTIVES: The aim of this study were to assess a) the prevalence of metabolic syndrome in outpatients with schizophrenia or schizoaffective disorder, b) the comparison of characteristics of patients with or without the metabolic syndrome, c) the sensitivity, specificity and positive predictive values of individual criteria for metabolic syndrome. METHODS: This study assessed the prevalence of the metabolic syndrome among 128 schizophrenia or schizoaffective disorder patients using the National Cholesterol Education Program-Adult Treatment Panel III. RESULTS: Of patients, 54.7% (M : 49.3%, F : 61.4%) had metabolic syndrome. The metabolic syndrome was associated with medical history of diabetes, hypertension and dyslipidemia. Presence of abdominal obesity was most sensitive (97.1%), while raised fasting glucose was most specific (89.7%). Combining abdominal obesity/raised triglycerides and abdominal obesity/low HDL cholesterol had 100% sensitivity. CONCLUSION: The metabolic syndrome is highly prevalent among outpatients with schizophrenia or schizoaffective disorder. This study suggests that the measurement of abdominal obesity is a simple test to identify individuals at high risk for metabolic syndrome.
Cholesterol ; Cholesterol, HDL ; Dyslipidemias ; Fasting ; Glucose ; Humans ; Hypertension ; Obesity, Abdominal ; Outpatients ; Prevalence ; Psychotic Disorders ; Schizophrenia ; Sensitivity and Specificity ; Triglycerides

OBJECTIVES: The aim of this study were to assess a) the prevalence of metabolic syndrome in outpatients with schizophrenia or schizoaffective disorder, b) the comparison of characteristics of patients with or without the metabolic syndrome, c) the sensitivity, specificity and positive predictive values of individual criteria for metabolic syndrome. METHODS: This study assessed the prevalence of the metabolic syndrome among 128 schizophrenia or schizoaffective disorder patients using the National Cholesterol Education Program-Adult Treatment Panel III. RESULTS: Of patients, 54.7% (M : 49.3%, F : 61.4%) had metabolic syndrome. The metabolic syndrome was associated with medical history of diabetes, hypertension and dyslipidemia. Presence of abdominal obesity was most sensitive (97.1%), while raised fasting glucose was most specific (89.7%). Combining abdominal obesity/raised triglycerides and abdominal obesity/low HDL cholesterol had 100% sensitivity. CONCLUSION: The metabolic syndrome is highly prevalent among outpatients with schizophrenia or schizoaffective disorder. This study suggests that the measurement of abdominal obesity is a simple test to identify individuals at high risk for metabolic syndrome.
Cholesterol ; Cholesterol, HDL ; Dyslipidemias ; Fasting ; Glucose ; Humans ; Hypertension ; Obesity, Abdominal ; Outpatients ; Prevalence ; Psychotic Disorders ; Schizophrenia ; Sensitivity and Specificity ; Triglycerides