Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers and toes, mild proptosis, choanal hypoplasia and maxillary hypoplasia.
Korea ; Infant, Newborn ; Humans ; Female ; Acrocephalosyndactylia/*diagnosis/genetics/radiography/surgery

Cutaneous polyarteritis nodosa (CPAN) is an uncommon form of vasculitis involving small and medium sized arteries of unknown etiology. The disease can be differentiated from polyarteritis nodosa by its limitation to the skin and lack of progression to visceral involvement. The characteristic manifestations are subcutaneous nodule, livedo reticularis, and ulceration, mostly localized on the lower extremity. Arthralgia, myalgia, peripheral neuropathy, and constitutional symptoms such as fever and malaise may also be present. We describe a 34-yr-old woman presented with severe ischemic change of the fingertip and subcutaneous nodules without systemic manifestations as an unusual initial manifestation of CPAN. Therapy with corticosteroid and alprostadil induce a moderate improvement of skin lesions. However, necrosis of the finger got worse and the finger was amputated.
Vasodilator Agents/therapeutic use ; Skin Diseases, Vascular/*complications/drug therapy/pathology ; Polyarteritis Nodosa/*complications/drug therapy/pathology ; Humans ; Gangrene/*etiology/surgery ; Fingers ; Female ; Amputation ; Alprostadil/therapeutic use ; Adult ; Adrenal Cortex Hormones/therapeutic use

We reported two cases of clinically typical melasma presenting with unusual histopathologic findings. In one case, the epidermal melanocytes were markedly increased in number and protruded into the dermis, and in the other case, increased epidermal pigmentation as well as dermal melanocytosis were found. We suggested that the various treatment modalities of melasma should be applied depend on its histopathologic finding.
Melanosis/*pathology ; Melanocytes/pathology ; Humans ; Female ; Epidermis/pathology ; Dermis/pathology ; Adult

Autoimmune hemolytic anemia associated with an ovarian teratoma is a very rare disease. However, treating teratoma is the only method to cure the hemolytic anemia, so it is necessary to include ovarian teratoma in the differential diagnosis of autoimmune hemolytic anemia. We report herein on a case of a young adult patient who had severe autoimmune hemolytic anemia that was induced by an ovarian teratoma. A 25-yr-old woman complained of general weakness and dizziness for 1 week. The hemoglobin level was 4.2 g/dL, and the direct and indirect antiglobulin tests were all positive. The abdominal computed tomography scan revealed a huge left ovarian mass, and this indicated a teratoma. She was refractory to corticosteroid therapy; however, after surgical resection of the ovarian mass, the hemoglobin level and the reticulocyte count were gradually normalized. The mass was well encapsulated and contained hair and teeth. She was diagnosed as having autoimmune hemolytic anemia associated with an ovarian teratoma. To the best of our knowledge, this is the first such a case to be reported in Korea.
Teratoma/*complications/diagnosis/surgery ; Ovarian Neoplasms/*complications/diagnosis/surgery ; Humans ; Female ; Diagnosis, Differential ; Blood Transfusion ; Anemia, Hemolytic, Autoimmune/diagnosis/*etiology/therapy ; Adult ; Adrenal Cortex Hormones/therapeutic use

A few cases of laparoscopic surgery for urachal remnant in children has been reported in English literature. With recent developments in minimal invasive surgery, laparoscopic approach for urachal remnant in adulthood is recommended by some laparoscopic surgeons because of its technical feasibility and safety as well as cosmesis. Recently we experienced a case of complicated urachal remnant in a 14-month-old girl, who was managed by laparoscopic approach. At presentation, she complained of high fever and lower urinary tract symptoms. After 6 weeks of antibiotics therapy, laparoscopic surgery was performed transperitoneally via 3 ports. Our experience suggests that laparoscopic excision of urachal remnant can be performed easily and safely in children.
Urachus/*abnormalities/pathology/*surgery ; Staphylococcus aureus ; Staphylococcal Infections/complications ; Laparoscopy/*methods ; Infant ; Humans ; Female

A santorinicele is defined as a focal cystic dilatation of the terminal portion of the dorsal pancreatic duct at the minor papilla. Most cases reported previously were associated with pancreas divisum and a santorinicele without pancreas divisum is known to be rare. We recently experienced a typical case of a santorinicele without pancreas divisum in a 67-yr-old woman with abdominal pain and hematochezia, subsequently proven to be the result of an ischemic colitis. The santorinicele was diagnosed incidentally with multi-detector row computed tomography using a minimum intensity projection technique, which clearly showed a cystic dilatation of the terminal portion of the dorsal pancreatic duct and a communication between the ventral and dorsal pancreatic ducts. This finding was also confirmed by a magnetic resonance cholangiopancreatography.
Tomography, X-Ray Computed/methods ; Pancreatic Ducts/pathology/*radiography ; Pancreatic Cyst/pathology/radiography ; Pancreas/pathology/radiography ; Humans ; Female ; Dilatation, Pathologic ; Aged

Acute myocardial infarction (AMI) is rare in patients with idiopathic thrombocytopenic purpura (ITP). We describe a case of an AMI during thrombocytopenia in a patient with chronic ITP. A 47-yr-old woman presented with anterior chest pain and a low platelet count (21,000/microliter) at admission. Urgent coronary angiography revealed total occlusion of proximal right coronary artery and primary percutaneous coronary intervention (PCI) was performed successfully. This case suggests that primary PCI may be a therapeutic option for an AMI in patients with ITP, even though the patient had severe thrombocytopenia.
Purpura, Thrombocytopenic, Idiopathic/*complications/drug therapy ; Myocardial Infarction/*complications/*therapy ; Middle Aged ; Immunoglobulins, Intravenous/administration & dosage/adverse effects ; Humans ; Heparin/administration & dosage/adverse effects ; Female ; Anticoagulants/administration & dosage/adverse effects ; *Angioplasty, Transluminal, Percutaneous Coronary

Neonatal alloimmune neutropenia (NAN) is an uncommon disease of the newborn provoked by the maternal production of neutrophil-specific alloantibodies, whereby neutrophil IgG antibodies cross the placenta and induce the destruction of fetal neutrophils. Affected newborns are usually identified by the occurrence of bacterial infections. The most frequent antigens involved in NAN are the human neutrophil antigen-1a (HNA-1a), HNA-1b, and HNA-2a. We report a neonate who was delivered at 36 weeks and had a severe neutropenia but who responded well to recombinant human granulocyte colony-stimulating factor (rhG-CSF). Anti-HNA-1a antibody was identified by mixed passive hemagglutination assay in both the sera of the baby and the mother. The baby had HNA-1a and HNA-1b but the mother had only HNA-1b on granulocytes. This is the first Korean report of NAN in which the specificity of the causative antibody was identified.
Pregnancy ; Neutrophils/immunology ; Neutropenia/drug therapy/etiology/genetics/*immunology ; Maternal-Fetal Exchange/immunology ; *Isoantigens/genetics ; Isoantibodies/*blood ; Infant, Newborn ; Immunoglobulin G/blood ; Humans ; Granulocyte Colony Stimulating Factor, Recombinant/therapeutic use ; Genotype ; Female ; DNA/genetics ; Base Sequence ; Antibody Specificity ; Adult

During a four-week period, four healthy term newborn infants born at a regional maternity hospital in Korea developed late-onset neonatal group B Streptococcus (GBS) infections, after being discharged from the same nursery. More than 10 days after their discharge, all of the infants developed fever, lethargy, and poor feeding behavior, and were subsequently admitted to the Korea University Medical Center, Ansan Hospital. GBS was isolated from the blood cultures of three babies; furthermore, GBS was isolated from 2 cerebral spinal fluid cultures. Three babies had meningitis, and GBS was isolated from their cerebral spinal fluid cultures. This outbreak was believed to reflect delayed infection after early colonization, originating from nosocomial sources within the hospital environment. This report underlines the necessity for Korean obstetricians and pediatricians to be aware of the risk of nosocomial transmissions of GBS infection in the delivery room and/or the nursery.
Time Factors ; *Streptococcus agalactiae/isolation & purification ; Streptococcal Infections/*epidemiology/microbiology/transmission ; Pregnancy ; Meningitis, Bacterial/epidemiology/microbiology/transmission ; Male ; Korea/epidemiology ; Infant, Newborn ; Humans ; Hospitals, Maternity ; Female ; *Disease Outbreaks ; Cross Infection/*epidemiology/microbiology/transmission

Cerebellum is a key structure involved in motor learning and coordination. In animal models, motor skill learning increased the volume of molecular layer and the number of synapses on Purkinje cells in the cerebellar cortex. The aim of this study is to investigate whether the analogous change of cerebellar volume occurs in human population who learn specialized motor skills and practice them intensively for a long time. Magnetic resonance image (MRI)-based cerebellar volumetry was performed in basketball players and matched controls with V-works image software. Total brain volume, absolute and relative cerebellar volumes were compared between two groups. There was no significant group difference in the total brain volume, the absolute and the relative cerebellar volume. Thus we could not detect structural change in the cerebellum of this athlete group in the macroscopic level.
Neuronal Plasticity ; Motor Skills/physiology ; Models, Anatomic ; Male ; Magnetic Resonance Imaging ; Humans ; Cerebellum/*anatomy & histology/physiology ; Basketball/*physiology ; Animals ; Adult