A Case of DiGeorge Syndrome

We experienced a case of DiGeorge syndrome in a 25-day-old male infant presented with micrognathia, short neck, fish-shaped mouth and intractable seizures with a loading dose of phenobarbital & dilantin. The serum calcium level was 3.7mg/dl, ionized calcium level was 0.62mmol/L, and parathyroid hormone carboxy-terminal level was 0.01ng/ml. We treated with it calcium gluconate infusion, low phosphorous formula milk feeding, and 1,25 (OH) 2D3. The serum calcium level was normalized in 3 days but fever and diarrhea symptom continued for 3 weeks. T-cells decreased, no thymus shadow was visible in chest MRI, and no reaction to delayed hypersensitivity skin test was detected at 9 months old. He has been followed up at the outpatient department, showing normal calcium level with the supplementation of calcium gluconate and 1,25 (OH) 2D3 for 10 months. A brief review of literatures was made.

A Case of Trisomy 9 Syndrome

Since Feingold and his collegues first described the trisomy 9 syndrome in 1973, approximately 30 patients with trisomy of the chromsome 9 have been described. Trisomy 9 has been reported as either partial or complete. Complete trisomy is rare and incompatible with a long life. Before this report, this syndrome has not been reported in Korea. A neonate was diagnosed trisomy 9 syndrome by clinical feature and chromosomal study. He had multiple anomalies such as broad-based nose, partially cleft lip, ambiguous genitalia, hyperconvex nails, overriding of fingers, and ventricular septal defect. The patient died at home on the 113th day of life.

A Case of Slowly Progressing Aneurysm of Left Ventricle and Thoracic Aorta Due to Automobile Blunt Trauma

A five-year-old boy received a blunt trauma on chest by a kindergarten bus on Feb. 29, 1996. Pulmonary hemorrhage and pericardiac effusion were developed, followed by multi-organ failure threatening his life. All symptoms were improving when pansystolic harsh murmur (III/IV) originating from a tiny ventricular rupture with a blood leak to the pericardial space was auscultated on the 12th day after the trauma. This murmur disappeared with the left ventricular healing and progressive aneurysmatic formation. Howeve, on the 61st day after the trauma a continuous murmur (II/III) of aortic dissecting aneurysm on the left upper sternal border and dorsum was newly auscultated. Two-dimensional color doppler echocardiogram and aortogram by femoral artery catheterization revealed aneurysmatic dilatations of both the left ventricular free wall and descending aorta immediately after the origin of the subclavian artery with mild mitral regugitation. The patient underwent successful corrective surgery.

Predicting Intraventricular Hemorrhage by the Nucleated Erythrocytes Counts in Preterm Neonates

PURPOSE: Prolonged fetal hypoxia stimulates erythropoiesis in fetal life and induces increased nucleated erythrocytes(NRBC) counts at the early newborn period. To evaluate the relationship between prolonged fetal hypoxia and neonatal intraventricular hemorrhage (IVH), and the prediction of neonatal IVH by neonatal NRBC. METHODS: We compared the daily courses of the absolute NRBC count in preterm new- boms at 34 weeks' gestation or earlier with(n=17) and without(n=20) IVH for 7 days of life. RESULTS: Absolute NRBC counts at birth were higher in neonates with IVH than in control neonates(2,499/mm3+/-3,748 and 412/mm3+/-272, respectively, P=0.0022). The cut-off value of 1,000/mm3 for absolute NRBC counts at birth showed the best parameter estimate of the predictive model for IVH at early newborn period with 100% of positive predictive value and 74.1% of negative predictive value. CONCLUSION: Prolonged fetal hypoxia inducing fetal erythropoiesis near labor is closely related to IVH at early newborn period. Thabsolute NRBC counts at birth is the very important predictable marker for the condition.

A Case of Hutch's Diverticulum Associated with Severe Bilateral Vesicoureteral Reflux

We experienced a case of primary hepatic actinomycosis which was initially diagnosed by means of fine needle aspiration. The patient was a 31-year-old emaciated man with a 2-month history of 10 kg weight loss, right upper quadrant pain and flank pain. The liver was palpable and tender on physical examination. Computerized tomography scan of the liver showed two ill-defined hypodense masses in gallbladder fossa and inferior pole of right lobe. Hepatocellular carcinoma was clinically suspected. A CT-guided fine needle aspiration was performed. Microscopically, smears showed numerous radiating clusters of filamentous bacteria with many neutrophils and monocytes in necrotic background. The symptoms were improved by incision and drainage and massive administration of penicillin.