A Case of 9p Tetrasomy Associated with Hydrocephalus due to Hypertrophy of Choroid Plexus / 대한소아신경학회지

9p Tetrasomy is rare chromosomal aberration that was described in approximately 30 previous patients in the world and this is the first described in Korea. Here we report a 3 month-old boy who was referred for genetic evaluation because of facial dysmorphism, such as wide fontanells, hypertelorism, bulbous nose, low set ears, cleft lip and palate. He had also psychomotor retardation and hypotonia. He was diagnosed as tetrasomy 9p syndrome by clinical feature and chromosomal study. Thereafter, increased growing of head size compared with body weight and height was observed and brain MRI shows hydrocephaly associated with remarkable hypertrophy of choroid plexus and mild Dandy Walker syndrome.

A Case of Isolated Right Ventricular Hypoplasia without Tricuspid Atresia or Pulmonary Atresia

Isolated right ventricular hypoplasia, unassociated with severe pulmonary or tricuspid valvar malformations, is a rare primary congenital cardiac anomaly in which of the trabecular portion of right ventricle fails to develop. An atrial septal defect or a patent foramen ovale serves as an escape valve. We observed a 2-day-old neonate with this disorder who suffered from cyanosis. The diagnosis was made by Doppler-echocardiography which revealed marked reduction in right ventricular size and right-to-left shunt through the atrial septal defect. There was no other cardiac malformation such as pulmonary atresia or tricuspid atresia.

Correlation Between Clinical and Pathological Prognositic Factors of IgA Nephropathy in Children

PURPOSE: Clinical and pathological prognostic factors of idiopathic IgA nephropathy have been reported, but mostly in adults and a few in children. Especially studies about correlation between those factors are very rare. METHODS: We studied 58 children patients who were hospitalized to our clinics and diagnosed as IgA nephropathy by renal biopsy from Jan. 1989 to Jun 1996. They got divided into several clinical groups, which are heavy proteinuria group (group A), asymptomatic urinary abnormalities group proteinuria and/or microscopic hematuria (group B), and recurrent gross hematuria group (group C). They are also divided into younger group (younger than 10 years of age) and older group (older than 10 years og age). We compared their pathological findings of bad prognosis, if they have, in different clinical groups. RESULTS: Group A had most pathological factors of bad prognosis such as higher Meadow grade, crescent formation, necrosis, glomerulosclerosis, tubular atrophy, interstitial fibrosis, two or more kinds of immune deposit except IgA, high frequency of electron dense deposits of glomerular capillary wall. Group B treded to have some poor prognostic factors such as tubular atrophy and interstitial fibrosis. in terms of age groups, older group was more apt to be heavily proteinuric than younger group, have such pathological factors of poor prognosis that group A had. CONCLUSION: Heavy proteinuria and relative old age in childhood IgA nephropathy, considered clinically poor prognostic, appears significantly correlated with pathologically poor prognostic factors.

Correlation Between Clinical and Pathological Prognositic Factors of IgA Nephropathy in Children

PURPOSE: Clinical and pathological prognostic factors of idiopathic IgA nephropathy have been reported, but mostly in adults and a few in children. Especially studies about correlation between those factors are very rare. METHODS: We studied 58 children patients who were hospitalized to our clinics and diagnosed as IgA nephropathy by renal biopsy from Jan. 1989 to Jun 1996. They got divided into several clinical groups, which are heavy proteinuria group (group A), asymptomatic urinary abnormalities group proteinuria and/or microscopic hematuria (group B), and recurrent gross hematuria group (group C). They are also divided into younger group (younger than 10 years of age) and older group (older than 10 years og age). We compared their pathological findings of bad prognosis, if they have, in different clinical groups. RESULTS: Group A had most pathological factors of bad prognosis such as higher Meadow grade, crescent formation, necrosis, glomerulosclerosis, tubular atrophy, interstitial fibrosis, two or more kinds of immune deposit except IgA, high frequency of electron dense deposits of glomerular capillary wall. Group B treded to have some poor prognostic factors such as tubular atrophy and interstitial fibrosis. in terms of age groups, older group was more apt to be heavily proteinuric than younger group, have such pathological factors of poor prognosis that group A had. CONCLUSION: Heavy proteinuria and relative old age in childhood IgA nephropathy, considered clinically poor prognostic, appears significantly correlated with pathologically poor prognostic factors.

Relationship of Recurrent Abdominal Pain Syndrome and Gastric Emptying Time

PURPOSE: Recurrent abdominal pain syndrome (RAPS) is not uncommon in school-aged children, but the etiology and pathogenesis are not understood well. But recent studies suggest that motility disorder makes up a majority of the pathogenesis. The aim of this study was to investigate gastric emptying time (GET) which is a method to evaluate gastrointestinal motility in patients with recurrent abdominal pain syndrome. METHODS: Radionuclide GET was investigated in 34 patients who visited the Department of Pediatrics, Pusan National University Hospital due to recurrent abdominal pain from January 1996 to June 1997. After 8 hours of fasting, the patient received two pieces of toast and a fried egg tagged with 2 mci of 99mTc albumin colloid and sequential counting was accomplished. We calculated the geometric mean of two counts measured from AP-PA scans and investigated 60 minutes of intragastric radionuclide retention rate. RESULTS: A total of 34 patients (12 boys, 22 girls, M : F=1 : 1.8) participated in this study. The age ranged from 5 to 12 years and the mean age was 8.8 years. Associated symptoms were headache (7 patients), nausea (7 patients), constipation (2 patients), vomiting (1 patient), and diarrhea (1 patient). Anti-Helicobacter pylori IgG Ab was positive in 4 cases. Endoscopic gastritis was found in 6 cases. The mean of 60 minutes of intragastric radionuclide retention rate was 72 +/- 17% and 27 cases (79%) were delayed significantly. CONCLUSION: The results of our study suggest that delayed gastric emptying time is a cause of abdominal pain in patients with recurrent abdominal pain syndrome.

Clinical Studies of Intractable Diarrhea During Infancy

PURPOSE: Intractable diarrhea during infancy is one of the major causes of infant mortality. But, its etiology, clinical courses, or methods of treatment are not well known. Therefore, we conducted a clinical approach to intractable diarrhea during infancy. METHODS: We have retrospectively evaluated clinical characteristics, laboratory findings, methods of treatment, days required for recovery, in 23 infants who were admitted with intractable diarrhea, from January 1993 to December 1996. RESULTS: The onset age was 18.4 +/- 17.8 days and the duration of diarrhea was 28.8 +/- 16.5 days. All patients were fed artificial milk before the onset of diarrhea. The possible causes of diarrhea were infection (60.8%), change of milk, milk concentration (17.4%), or an unknown origin (21.8%). Laboratory findings on admission showed hemoglobin 9.5 +/- 2.2g/dL, serum albumin 2.9 +/- 0.7g/dL. E. coli was cultured in urine in 1 case. Stool rotavirus antibody was positive in 1 case. Nineteen patients (82.6%) required total parenteral nutrition for 18.3 +/- 13.6 days and antibiotics were administered to 20 patients (86.9%). Twenty-two patients (95.7%) were fed special element formula milk. All but one who died of necrotizing enterocolitis, recovered. Special element fomula milk was used for 92.6 +/- 20.5 days after discharge, and there were no cases of recurrence. CONCLUSION: We considered appropriate oral element fomulas, total parenteral nutrition and the proper treatment of infection as important factors in future outcome of intractable diarrhea during infancy. We thought the short-term administration of special formula milk can be substituted for normal milk or a weaning diet. However, encouraging breast feeding may perhaps be a more effective way of preventing this problem.

Clinical Studies of Intractable Diarrhea During Infancy

PURPOSE: Intractable diarrhea during infancy is one of the major causes of infant mortality. But, its etiology, clinical courses, or methods of treatment are not well known. Therefore, we conducted a clinical approach to intractable diarrhea during infancy. METHODS: We have retrospectively evaluated clinical characteristics, laboratory findings, methods of treatment, days required for recovery, in 23 infants who were admitted with intractable diarrhea, from January 1993 to December 1996. RESULTS: The onset age was 18.4 +/- 17.8 days and the duration of diarrhea was 28.8 +/- 16.5 days. All patients were fed artificial milk before the onset of diarrhea. The possible causes of diarrhea were infection (60.8%), change of milk, milk concentration (17.4%), or an unknown origin (21.8%). Laboratory findings on admission showed hemoglobin 9.5 +/- 2.2g/dL, serum albumin 2.9 +/- 0.7g/dL. E. coli was cultured in urine in 1 case. Stool rotavirus antibody was positive in 1 case. Nineteen patients (82.6%) required total parenteral nutrition for 18.3 +/- 13.6 days and antibiotics were administered to 20 patients (86.9%). Twenty-two patients (95.7%) were fed special element formula milk. All but one who died of necrotizing enterocolitis, recovered. Special element fomula milk was used for 92.6 +/- 20.5 days after discharge, and there were no cases of recurrence. CONCLUSION: We considered appropriate oral element fomulas, total parenteral nutrition and the proper treatment of infection as important factors in future outcome of intractable diarrhea during infancy. We thought the short-term administration of special formula milk can be substituted for normal milk or a weaning diet. However, encouraging breast feeding may perhaps be a more effective way of preventing this problem.

A Case of Intracranial Granulocytic Sarcoma Associated with Myelodysplastic Syndrome / 대한소아혈액종양학회지

Granulocytic sarcoma is an uncommon extramedullary localized tumor composed of granulocytic precursor cells. The majority of cases have been reported in association with acute myeloid leukemia(AML) especially in children, but infrequently may occur in patients with myeloproliferative disorders or myelodysplastic syndromes. Most common sites of involvement were bone, soft tissue, lymph nodes and skin, but gastrointestinal tract, testis, central nervous system are also involved rarely. We present an unusual case of granulocytic sarcoma of the intracranium and the retro-orbital soft tissue occurring in a patient with concurrent myelodysplastic syndrome, diagnosed by brain magnetic resonance images and ultrasound guided needle biopsy.