Clinical Evaluation of Hypoglycemic Symptoms Reported by Children with Insulin-dependent Diabetes Mellitus and by Their Parents

PURPOSE: The following study has been carried out to find the symptoms of hypoglycemia and the symptoms of transient focal neurologic deficit, which were complained by insulin dependent diabetes mellitus patients and their parents. METHODS: The subjects of this study were 16 insulin dependent diabetic patients who were admitted to the pediatric department of Samsung Medical Center. From the 28 possible symptoms of hypoglycemia, the patients and their parents were asked to choose the symptoms they were experiencing through questionnaires, and the mean score was obtained by dividing the frequency of each symptom manifestation by 4 levels. RESULTS: Of the 16 patients, there were 6 males and 10 females and their average age was 13 years. The complaints raised by insulin dependent diabetic patients and their parents regarding the symptoms of hypoglycemia were relatively similar. However the frequency of observed symptoms such as pounding heart, dizziness and trembling was higher in the complaints of patients, and the mean score of objective symptoms such as slurred speech, odd behaviors, aggressiveness was much higher in the complaints of parents. During symptoms of hypoglycemia, three cases were seen throwing fits of convulsions due to neurologic deficit. CONCLUSION: It is thought that parents can offer a reasonably accurate information on the symptoms of hypoglycemia in insulin dependent diabetic patients, and particularly, behavioral changes in young children with diabetes mellitus is considered as an important characteristic for testing hypoglycemia.

A Study on the Relationship Between Genotype and Phenotype in Korean Patients with Congenital Adrenogenital Syndrome Caused by 21-hydroxylase Deficiency / 대한내분비학회지

BACKGROUND: Congenital adrenal hyperplasia (CAH) results from an inherited defect in enzymatic steps required to synthesize cortisol from cholesterol. 21-hydroxylase deficiency accounts for 95% cases of CAH. It appears that the frequency and the type of the responsible mutations differ according to the ethnic background and the type of mutation can predict the clinical outcomes such as salt losing type (SL), simple virilizing type (SV) and non-classic type (NC). METHODS: We have analyzed CYP21 genes in 55 Korean cases (110 chromosomes) of CAH by Southern blotting, PCR-dot hybridization and PCR amplification-created restriction site method. The patients include 43 cases of SL and 12 of SV. None of the NC was found. RESULTS: We found the mutations in 94% (103/110) of the examined chromosomes. A total of 10 types of mutations were discovered. The mutations include aberrant splicing of intron 2 (i2, 35%), CYP21 gene deletion (32%) and I172N (11%) in order. When the relationship between the clinical types and genotypes were correlated, most of the SL patients have either i2 (42%) or CYP21 gene deletion (41%), while SV patients have I172N (33%) or P30L (21%). The parents' mutation was investigated in 20 cases. In 4 families, one of the parents was not the obligatory heterozygote carrier i.e. did not have a mutation. The results suggest the high incidence of de novo mutation. CONCLUSION: We have identified the frequency of mutations of the CYP21 in Korean AGS patients. Our results shows that the clinical type of AGS can be predicted from the genotypes of CYP21. Also the high incidence of de novo mutation of CYP21 confirmed the genetic instability of major histocompatibility III region where the CYP21 is located.

Medical Therapy in Children with Persistent Hyperinsulinemic Hypoglycemia of Infancy(PHHI)

PURPOSE: Persistent hyperinsulinemic hypoglycemia of infancy(PHHI), which is characterised by inappropriate insulin secretion in spite of hypoglycemia, needs urgent treatment to prevent cerebral hypoglycemic damage. Although pancreatectomy is the treatment of choice for PHHI, there are several complications which follow treatment. We suggest that aggressive medical therapy, when effective, is preferable to partial pancreatectomy. METHODS: We evaluated 8 patients with PHHI admitted to the Department of Pediatrics, Samsung Medical Center from November 1996 to January 1999. Children with hypoglycemia in the range of 3-50mg/dl were included. Octreotide was administered at dosage of 100-150 microgram/day. When the patients did not respond to octreotide, diazoxide and nifedipine were given in addition. RESULTS: In four of eight patients, octreotide was discontinued after 15 to 165 days. One patient was given diazoxide instead. The remaining 3 patients are still being treated with octreotide. CONCLUSION: We believe that maximum effort should be made to attain euglycemia with medication, and pancreatectomy should be reserved for patients in whom these measures fail to restore normoglycemia.

Two Cases with Pseudohypoaldosteronism / 대한소아내분비학회지

Pseudohypoaldosteronism is a disorder in which synthesis of aldosterone is normal but unresponsiveness of the target to the aldosterone activates angiotensin-renin system which in turn elevates levels of renin and aldosterone. This salt-losing syndrome causes life-threatening hyponatremia and hyperkalemia. Despite of the normal renal and adrenal function, due to deficiency of aldosterone function, reabsorption of sodium and excretion of potassium in the kidney is impaired. Sodium loss not only from the kidney but also from sweat gland, salivary gland and colon may occur in some cases. We experienced two cases of pseudohypoaldosteronism in a 3-day-old male and 6-month-old female. The hyponatremia, hyperkalemia, elevation of plasma renin activity and aldosterone concentration were observed without renal and adrenal dysfunction. Brief review and related literatures were also presented.

Congenital Intrahepatic Portosystemic Shunt in a Newbom Successfully Treated with Coil Embolization Via Umbilical Vein

Congenital intrahepatic portosystemic shunt is a rare entity and is mostly reported in adults. In embryonic period, the vitelline vein is broken up into the vitelline sinusoids, which become the intrahepatic portal vein branches and the hepatic veins. The portosystemic venous shunts may develop from embryonic vascular remnants, including the vitelline vein and ductus venosus. We report for the first time in Korea a case of congenital intrahepatic portosystemic shunt in a newbom infant presenting with congestive heart failure and hepatomegaly, successfully treated by coil embolization via umbilical vein.

Congenital Urinary Tract Anomalies Associated with Urinary Tract Infection in Infants and Children

We report 4 cases of malignant thymoma which were composed of 2 cases of invasive thymoma and 2 cases of thymic carcinoma. The cytologic findings of invasive thymoma were similar to those of benign thymoma. The distinctive cytologic features of thymic carcinoma were necrotic background, irregular clusters and individually scattered arrangement of anaplastic epithelial cells, and some scattered mature small lymphocytes. These findings may be found in the Hodgkin's lymphoma, seminoma, and metastatic squamous cell carcinoma, undifferentiated carcinoma, and large cell carcinoma of the lung. But, the feature of irregular clustering of anaplastic epithelial cell having scanty cytoplasm was different from Hodgkin's lymphoma and seminoma. Clinical and radiologic findings as well as cytologic finding were helpful in differential diagnosis of thymic carcinoma from metastatic carcinoma.

Central Diabetes Insipidus in Children Related to Craniotomy for a Brain Tumor

PURPOSE: Diabetes insipidus(DI) has been known to be a relatively common complication after craniotomy. We have investigated the incidence and clinical course of DI in children related to craniotomy for a brain tumor and determined the risk factors of postoperative DI. METHODS: Sixty-two pediatric patients, who have undergone craniotomy for a brain tumor(including stereotactic biopsy) from February 1995 through January 1998, were included in this study. We reviewed hospital records retrospectively and analyzed daily fluid intake and output, electrolytes and osmolarity of serum and urine, and urine specific gravity. RESULTS: Of 62 patients, DI developed preoperatively in 7 patients and postoperatively in 7 patients. Preoperative DI composed of 4 germinoma, 2 craniopharyngioma and a histiocytosis, followed by permanent DI after operation. All of the postoperative DI were composed of suprasellar tumors, including 4 craniopharyngioma, which progressed to permanent DI in 5 cases and transient DI in 2 cases. The 5 patients had a triphasic response. The initial phase of DI began within 12 hours postoperatively followed by antidiuretic phase at the 2nd-6th postoperative day, lasted 1-6 days and finally all patients entered permanent DI. Hypopituitarism developed in 10 patients and all of them were accompanied by permanent DI. CONCLUSION: DI is a common complication after neurosurgery for the hypothalamic or pituitary area. The high-risk factors of permanant DI are preoperative DI, combined hypopituitarism or triphasic response. Therefore, it is important to closely monitor this high-risk group, and we should consider endocrinological evaluation in patients who had undergone craniotomy for a brain tumor.

Variables Influencing 17-Hydroxyprogesterone Values in Newborn Screening for Congenital Adrenal Hyperplasia

PURPOSE: Congenital adrenal hyperplasia(CAH), which is classified into salt-wasting, simple virilization and non-classic type according to clinical features, is difficult to detect in early stages. Failure to diagnose it in the initial state may lead to life-threatening adrenal crisis, inappropriate male sex assignment in the genetic female, acceleration of skeletal maturation and subsequent short stature. Therefore, we studied the variables increasing the 17-hydroxyprogesterone(OHP) values for more specific and sensitive diagnosis of CAH. METHODS: We classified 3,532 newborns into variable factors; gestational age, birth weight, gender, delivery type, sampling date and stress. Then, we analysed the relationships between 17-OHP values and variable factors. RESULTS: The mean value of 17-OHP was 4.21+/-0.03ng/ml. There were significant differences among the variable factors except gender. The mean value of male was 4.26ng/ml, and that of female was 4.15ng/ml(P=0.10). The mean value of 17-OHP in vaginal delivered newborn was higher than C-section delivered ones(4.71ng/ml, 3.34ng/ml, P=0.0001). It was also higher in low birth weight(P=0.0001), in prematurity(P=0.001), those sampled within 4 days(P=0.0001), stressful condition and ventilator care-assisted(P=0.004). CONCLUSION: 17-OHP value in neonatal screening is influenced by several variables such as vaginal delivery, ventilator management, low birth weight, sampling date and prematurity. If the 17-OHP value is increased, we have to consider the variables influencing the increase in value and follow up with time interval or analysis of genetic mutations.

Central Diabetes Insipidus in Children Related to Craniotomy for a Brain Tumor

PURPOSE: Diabetes insipidus(DI) has been known to be a relatively common complication after craniotomy. We have investigated the incidence and clinical course of DI in children related to craniotomy for a brain tumor and determined the risk factors of postoperative DI. METHODS: Sixty-two pediatric patients, who have undergone craniotomy for a brain tumor(including stereotactic biopsy) from February 1995 through January 1998, were included in this study. We reviewed hospital records retrospectively and analyzed daily fluid intake and output, electrolytes and osmolarity of serum and urine, and urine specific gravity. RESULTS: Of 62 patients, DI developed preoperatively in 7 patients and postoperatively in 7 patients. Preoperative DI composed of 4 germinoma, 2 craniopharyngioma and a histiocytosis, followed by permanent DI after operation. All of the postoperative DI were composed of suprasellar tumors, including 4 craniopharyngioma, which progressed to permanent DI in 5 cases and transient DI in 2 cases. The 5 patients had a triphasic response. The initial phase of DI began within 12 hours postoperatively followed by antidiuretic phase at the 2nd-6th postoperative day, lasted 1-6 days and finally all patients entered permanent DI. Hypopituitarism developed in 10 patients and all of them were accompanied by permanent DI. CONCLUSION: DI is a common complication after neurosurgery for the hypothalamic or pituitary area. The high-risk factors of permanant DI are preoperative DI, combined hypopituitarism or triphasic response. Therefore, it is important to closely monitor this high-risk group, and we should consider endocrinological evaluation in patients who had undergone craniotomy for a brain tumor.

Variables Influencing 17-Hydroxyprogesterone Values in Newborn Screening for Congenital Adrenal Hyperplasia

PURPOSE: Congenital adrenal hyperplasia(CAH), which is classified into salt-wasting, simple virilization and non-classic type according to clinical features, is difficult to detect in early stages. Failure to diagnose it in the initial state may lead to life-threatening adrenal crisis, inappropriate male sex assignment in the genetic female, acceleration of skeletal maturation and subsequent short stature. Therefore, we studied the variables increasing the 17-hydroxyprogesterone(OHP) values for more specific and sensitive diagnosis of CAH. METHODS: We classified 3,532 newborns into variable factors; gestational age, birth weight, gender, delivery type, sampling date and stress. Then, we analysed the relationships between 17-OHP values and variable factors. RESULTS: The mean value of 17-OHP was 4.21+/-0.03ng/ml. There were significant differences among the variable factors except gender. The mean value of male was 4.26ng/ml, and that of female was 4.15ng/ml(P=0.10). The mean value of 17-OHP in vaginal delivered newborn was higher than C-section delivered ones(4.71ng/ml, 3.34ng/ml, P=0.0001). It was also higher in low birth weight(P=0.0001), in prematurity(P=0.001), those sampled within 4 days(P=0.0001), stressful condition and ventilator care-assisted(P=0.004). CONCLUSION: 17-OHP value in neonatal screening is influenced by several variables such as vaginal delivery, ventilator management, low birth weight, sampling date and prematurity. If the 17-OHP value is increased, we have to consider the variables influencing the increase in value and follow up with time interval or analysis of genetic mutations.

The Clinical Study on Marfan Syndrome

PURPOSE: The aim of this study was to assess the involvement of several organs patients with Marfan syndrome in Korea. Also the clinical features in childhood patients with Marfan syndrome were assessed. METHODS: Thirty-eight cases of Marfan syndrome were enrolled in this study. Clinical evaluations of the musculoskeletal, cardiovascular and occular system were performed in all cases. RESULTS: The musculoskeletal system was involved in 32 cases (84.2%) and occular system in 24 cases (63.1%). Cardiovascular abnormalities were found in 19 cases (50.0%) at initial evaluation. Family history was involved in 21 cases (55.2%). Ectopia lentis was found in 17 cases (70.8%). Severe myopia and iris abnormalities were also present in 14 cases (58.2%). The ascending aorta was dilated in 13 cases (34.2%). Emergency operation was performed in 3 cases (7.9%) because of a dissecting aorta. Mitral regurgitation and prolapse were found in 29 cases (76.4%) and other valve insufficiency was accompainied in 5 cases (13.1%). Of the 38 cases, 29 patients (79.3%) were less than 15 years of age and their major manifestations were occular problems in 23 cases (79.3%), and family history in 17 cases (58.6%). In one infant, severe heart failure was the predominant clinical feature. CONCLUSION: The clinical features of Korean patients with Marfan syndrome were summarized in this report. Heart failure was the main manifestaton in infantile Marfan syndrome. Early treatment with beta-blocker and valvular replacement can prevent fatality, i.e. aortic dissection, in this disease, concern and management should be advocated in the early detection of Marfan syndrome.

Study of Genetic Imprinting on 3 Cases of Insulin-Dependent Diabetes Mellitus Developed in Early Infantile Period / 대한소아내분비학회지

Infantile onset diabetes mellitus(especially, neonatal diabetes) is rare disorder and may be transient or permanent. Most patients are full-term but small-for-date infants and typical symptoms occur within the first 4-6 weeks of life, requiring insulin therapy. Neonatal diabetes differs from type 1 diabetes in many aspects and seems to form a distinct entity of inborn pancreatic malfunction. The transient cases often develop type 2 diabetes mellitus later in life. In recent reports, transient neonatal diabetes is associated with paternal uniparental isodisomy and unbalanced duplication of chromosome 6q22-23. In our study, clinical course of case 1 was compatible with transient neonatal diabetes, but chromosomal abnormalities such as above was not shown in DNA analysis. In case 2 and 3, we could not decide exactly on genetic basis.

A case of Iatrogenic Esophageal Perforation in a Premature Infant

Esophageal perforation, a well-known entity in adults, is relatively uncommon in infants and children. Aggressive management in neonatal intensive care units have led to increased survival of premature infants and very sick babies. But it have led to unusual complication like iatrogenic perforation. Perforation of the esophagus or pharynx may occur during replacement of endotracheal or nasogastric tubes in the newborn infant. We recently experienced a case of esophageal perforation presenting with pneumomediastinum in premature infant, which was induced by gastric tube insertion and managed medically. We think that prevention is more important. So, careful visualization of vocal cord during intubation, gentle laryngoscopy, and the use of a soft rubber catheter for oral suction are needed.

Hemolytic-Uremic Syndrome Associated with Bloody Diarrhea

The authors analysed 2,653 cases of transthoracic fine needle aspiration cytology of the lung to evaluate the diagnostic accuracy and its limitation. A comparison was made between the original cytologic and the final histologic diagnoses on 1,149 cases from 1,074 patients. A diagnosis of malignancy was established in 38.3% benign in 48.1%, atypical lesion in 2.3%, and inadequate one in 11.9% of the cases. Statistical data on cytologic diagnoses were as follows; specificity 98.9%: sensitivity of procedure, 76.8%: sensitivity of diagnosis, 95.5%: false positive 5 cases: false negative 18 cases: predictive value for malignancy, 98.8%: predictive value for benign lesion, 79.5%: overall diagnostic efficiency, 87.5%: typing accuracy in malignant tumor, 80%.