• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.96-102
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• 2017

Glycogen storage disease type IX (GSD IX) is caused by deficiency of phosphorylase kinase which plays a role in breakdown of glycogen. Mutations in PHKA2 are the most common cause of GSD IX (GSD IXa). Clinical manifestations of GSD IXa include hepatomegaly, elevation of liver enzyme, growth retardation, fasting hypoglycemia, and fasting ketosis. However, the symptoms overlap with those of other types of GSDs. Here, we report Korean familial cases with GSD IXa whose diagnosis was confirmed by targeted exome sequencing. A 4-year old male patient was presented with hepatomegaly and persistently elevated liver enzyme. Liver biopsy revealed swollen hepatocyte filled with glycogen storage, suggesting GSDs. Targeted exome sequencing was performed for the differential molecular diagnosis of various types of GSDs. A hemizygous mutation in PHKA2 were detected by targeted exome sequencing and confirmed by Sanger sequencing: c.3632C>T (p.Thr121Met), which was previously reported. The familial genetic analysis revealed that his mother was heterozygous carrier of c.3632C>T mutation and his 28-month old brother had hemizygous mutation. His brother also had hepatomegaly and elevated liver enzyme. The hypoglycemia was prevented by frequent meals with complex carbohydrate, as well as cornstarch supplements. Their growth and development is in normal range. We suggest that targeted exome sequencing could be a useful diagnostic tool for the genetically heterogeneous and clinically indistinguishable GSDs. A precise molecular diagnosis of GSD can provide appropriate therapy and genetic counseling for the family.

• Imaging Science in Dentistry
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• v.46 no.4
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• pp.273-278
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• 2016

Plasma cell leukemia (PCL) is an aggressive form of multiple myeloma where there is hematogenous spread of abnormal plasma cells into the periphery. This is opposed to multiple myeloma, where the abnormal plasma cells stay in the bone marrow. PCL is more common in males than females, and is also more common in African-Americans than Caucasians. Signs and symptoms of PCL include, but are not limited to, renal insufficiency, hypercalcemia, anemia, lytic bone lesions, thrombocytopenia, hepatomegaly, and splenomegaly. Here, we discussed a case of a 71-year-old Caucasian female recently diagnosed with primary PCL with radiographic features of this disease throughout the body, with an emphasis on the maxillofacial skeleton and relevance from a dental standpoint.

• The Korean Journal of Nuclear Medicine
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• v.4 no.2
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• pp.67-71
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• 1970

Fourteen patients with typhoid fever were studied by scanning and clearance-rate measurements of subcritical dose colloidal radiogold($^{198}Au$). Mild to moderate enlargement of the liver and spleen was noted in 78.6 and 64.3 per cent of patients, respectively; and splenic and spinal bone-marrow uptake was seen in 78.6 and 57.1 per cent of cases, respectively. Typically, these scan changes occurred concomitantly (57.1%) and are considered to represent increased phagocytic activity of the RE cells which is characteristic of typhoid fever. The half clearance-time was significantly shortened during the first 10-day period of the illness indicating an increas in the hepatic blood in the early phase of typhoid infection. Hepatomegaly, splenomegaly and extrahepatic uptakes along with an accelerated (or later a normal) clearance time are characteristic of typhoid fever.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.17 no.3
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• pp.191-195
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• 2014

A 4-week-old infant presented with a coagulation disorder resulting from a vitamin K deficiency. The vitamin K deficiency was caused by neonatal cholestasis due to biliary atresia. Jaundice, hepatomegaly and pale stools are the predominant presenting symptoms of biliary atresia, none of which were recognized in our patient before admission. However, the patient presented with bleeding caused by vitamin K deficiency. She was fully breastfed and had received adequate doses of vitamin K at birth and from the age of 1 week. In case of a hemorrhagic diathesis due to neonatal cholestasis, timely identification of treatable underlying disorders, in particular biliary atresia, is important because an early surgical intervention results in a better prognosis. Meticulous history taking and a thorough physical exam can be decisive for an early diagnosis and subsequent intervention.

• Journal of Chest Surgery
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• v.19 no.4
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• pp.578-583
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• 1986

Tetralogy of Fallot is the most common cyanotic congenital anomaly, which needs some operation for the survival. Perioperative mortality of the Tetralogy of Fallot was lowered remarkably in recent years, but some discussions were presented for the criteria of the corrective surgery and the corrective method of the pulmonary stenosis. In the Department of Thoracic and Cardiovascular Surgery of the Chunbug National University Hospital, 17 cases of tetralogy of Fallot were corrected totally from July in 1983 to August in 1984. In correction of the pulmonary stenosis, transannular patch was applied in B patients, infundibulectomy in 5, RVOT patch without transannular patch in 3, and isolated patches on RVOT and pulmonary trunk. Preoperative and early postoperative hemodynamic study revealed increased RA pressure in transannular patch group, which was significant statistically. [p<0.01]. Clinically, perioperative death occurred only in transannular patch group, and right heart failure signs including hepatomegaly, ascites, pleural effusion and peripheral edema were high in frequency in transannular patch group.

• Korean Journal of Veterinary Service
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• v.38 no.1
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• pp.61-64
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• 2015

Highly pathogenic avian influenza (HPAI) occurred in the breeder duck farms in Jeonbuk of in Korea on January to February 2014. Clinically, the most ducks showed various signs from depression, dropped egg production and feed consumption to even, death. The most commonly gross changes were hepatomegaly, splenomegaly, petechial and ecchymotic hemorrhage on the liver surface, a white stripe on the cardiac muscle, multifocal hemorrhagic foci in pancreas, and severely hemorrhagic embryos. The most significant signs of H5N8 virus was supposed to specific on ducks. The viral antigen was mainly detected in the endothelium of blood vessels of various organs and tissues, peripheral nerves, and neuronal cells. Based on the above results, we identified that HPAI H5N8 induced systemic infection in the adult breeder ducks.

• Journal of Chest Surgery
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• v.24 no.4
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• pp.382-389
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• 1991

The clinical observations on the 63 cases of the mitral valvular heart disease treated in the department of Thoracic and Cardiovascular Surgery, Kosin medical college, during the period of 5 years from January, 1986 to December, 1989, are as follows. 1. Total 63 cases, 23 were male and 40 were female with sex ratio of 1: 1.7. 2. The age distribution was widely varied from 7 years of the youngest to 65 years oldest, average age was 35.3 year old. 3. The main clinical symptom and sign were D.O.E, general weakness, fatigability, palpitation, chest pain, hepatomegaly, pitting edema and both neck vein distension. 4. The preoperative N.Y.H.A functional classification were class II, III, IV in 28%, 54%, 16%. 5. The preoperative diagnosis were MS - 6.3%, MR - 53.9%, MSR - 36.5%, MVP - 3.1%. 6. All 63 patients were operated on the under direct vision using extracorporeal circulation, MVR in 18 cases, MVR and Tricuspid annuloplasty in 24 cases, DVR in 3 cases, DVR and Tricuspid annuloplasty in 5 cases, TVR in 1 case, Mitral annuloplasty in 4 cases, mitral valvuloplasty in 7 cases and mitral commissurotomy in 2 cases 7. The operative mortality was 7.9%, and 5 years actuarial survival rate was 89%.

• Journal of Veterinary Clinics
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• v.13 no.1
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• pp.87-92
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• 1996

A hemangiosarcoma in a 30 kg, 6-year-old German Shepherd dog showing signs of abdominal distension, anorexia and depression was diagnosed with clinicopathologic examination, abdominal radiographs and ultrasonographic assessmint. In abdominal radiographs, overall abdominal distension was seen. Stomach and some parts of small intestines were deviated caudo-ventrally by enlarged liver. The splenomegaly was also identified and descending colon was dislocated laterally by splenic mass. In ultrasonographic findings, abdominal fluid was identified. Hepatomegaly was seen and it was consisted of multiple, anechoic cysts. The spleen was enlarged and a large round mass with mixed echo pattern at the mid to tail portion of spleen was identified. Grossly, at necropsy, multi-sized cysts in which contained blood and fibrpus materials and some blood were seen in the cross section and it showed hard consistency. Also, lots of small red tumor nodules were dispersed on the serosal surface of the bladder, omentum, mesentery, diaphragm and peritoneum. In abdominal paracentesis, fluid having almost the same properties as circulating blood was identified. The hemoperitoneum was thought to be resulted from the bleeding into peritoneum owing to the rupture of cystic lesions located on the superficial liver area.

• Korean Journal of Veterinary Research
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• v.45 no.3
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• pp.381-385
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• 2005

Aeromonas hydrophilia infection was diagnosed in captive Jackass penguins (Spheniscus demersus). Seven Jackass penguins showed clinical signs including depression and anorexia with greenish vomiting, but four penguins were died although extensive treatment was carried out. At necropsy, the penguins appeared to have hemorrhage and catarrhal inflammation of the small and large intestines and severe enlargement of the right hepatic lobe, elongation of the gall bladder and pyloric ulceration of the stomach. The ovaries observed atrophy and congestion. Microscopically, there were congestion, fat droplet within the cytoplasm of the hepatic cell, infiltration of lymphocytes in the stomach, vilous detachment and destroyed glandular epithelium in the small and large intestines. Aeromonas hydrophilia was isolated from the liver and small intestines. This case is the first report of an occurrence of Aeromonas hydrophilia infection at Jackass penguins in Korea.

• Clinical and Experimental Pediatrics
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• v.45 no.5
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• pp.664-668
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• 2002

A twenty six months-old boy developed hemophagocytic syndrome during the course of Kawasaki disease. Despite the appropriate treatment modalities for Kawasaki disease, he developed thrombocytopenia, hepatomegaly, high-grade fever, hypertriglyceridemia, peripheral gangrene, and evidence of hemophagocytosis in bone marrow biopsy. Although the course was stormy, he responded well to a combination therapy of corticosteroid and etoposide.