ABSTRACT
The Dandy-Walker syndrome is a developmental disorder of the brain characterized by cystic dilatation of the fourth ventricle and agenesis or hypoplasia of the cerebellar vermis. We experinced a case of Dandy-Walker syndrome with complex cardiac anomaly in female newborn who presented with apnea at birth. Physical examination showed coloboma on left eye, low estting malformed ear, and high arched palate. Autopsy revealed cystic dilatation of the fourth ventricle with secondary loss of cerebellar vermis. The floor of the fourth ventricle is exposed through this defect. Heart showed aortic atresia and univentricular heart. The case is reported with the review of the literatures.
Subject(s)
Female , Humans , Infant, Newborn , Apnea , Autopsy , Brain , Coloboma , Dandy-Walker Syndrome , Dilatation , Ear , Fourth Ventricle , Heart , Palate , Parturition , Physical ExaminationABSTRACT
Congenital dyserythropoietic anemia Type II (herditary erythroblatic multinuclearity with positive acidified serum test; HEMPAS) is characterized by binuclearity, multinuclearity, pluripolar mitoses, karyorrhexis of normoblasts, and the presence of abnormal antigens on the red cells. We experienced a case of HEMPAS in a 2 month old girl patient who had an intermittent fever, abdominal distention with palpable liver & spleen, and generalized jaundice. The blood analysis revealed anemia, and thrombocytopenia. Peripheral blood smear showed an averge of 6 mature normoblast per 100 leukocyte count. The red cells showed moderate anisocytosis, poikilocytosis, irregularly crenated, contracted cells and occasional spherocytes. The leukocytes showed relative lymphocytosis, and there were occasional villous lymphocytes. The marrow smear showed abnormality in erythroid series. About ten percent of the erythroblasts showed 2~7 nuclei or lobulated nuclei. The mitotic forms of the erythroid precursors were also increased in frequency. The M:E ratio was 1:3.2. Blood culture on this patient showed a pure growth of Coxiella burnetti. Medical treatment with Doxycycline and Rifampin was performed. After treatment, she became afebrile showing improved general condition with decreased size of liver & spleen. In spite of clinical improvement, she died suddenly 3 weeks after initial treatment.
Subject(s)
Female , Humans , Infant , Anemia , Anemia, Dyserythropoietic, Congenital , Bone Marrow , Coxiella , Doxycycline , Erythroblasts , Fever , Hempa , Jaundice , Leukocyte Count , Leukocytes , Liver , Lymphocytes , Lymphocytosis , Mitosis , Rifampin , Spherocytes , Spleen , ThrombocytopeniaABSTRACT
Takayasu arteritis is a chronic inflammatory arteriopathy of unknown etiology affecting large vessels, the aorta and its main branches. We experienced a case of Takayasu arteritis type III in a 9 years old girl. The diagnosis was made by physical examinations and digital subtration aortography (DSA) which showed occlusion of left subclavian artery and left renal artery and stenosis of abdominal aorta. Medical treatment and percutaneous transluminal angioplasty (PTA) were performed. A brief review of literatures was made.
Subject(s)
Child , Female , Humans , Angioplasty , Aorta , Aorta, Abdominal , Aortography , Constriction, Pathologic , Diagnosis , Physical Examination , Renal Artery , Subclavian Artery , Takayasu ArteritisABSTRACT
No abstract available.