Brain abscess in Korean children: A 15-year single center study / 소아과

PURPOSE: A brain abscess is a serious disease of the central nerve system. We conducted this study to summarize the clinical manifestations and outcomes of brain abscesses. METHODS: A retrospective chart review of pediatric patients diagnosed with brain abscesses from November 1994 to June 2009 was performed at Samsung Medical Center, Seoul, Korea. RESULTS: Twenty-five patients were included in this study. On average, 1.67 cases per year were identified and the median age was 4.3 years. The common presenting clinical manifestations were fever (18/25, 72%), seizure (12/25, 48%), altered mental status (11/25, 44%), and signs of increased intracranial pressure (9/25, 36%). A total of 14 (56%) patients had underlying illnesses, with congenital heart disease (8/25, 32%) as the most common cause. Predisposing factors were identified in 15 patients (60%). The common predisposing factors were otogenic infection (3/25, 12%) and penetrating head trauma (3/25, 12%). Causative organisms were identified in 64% of patients (16/25). The causative agents were S. intermedius (n=3), S. aureus (n=3), S. pneumoniae (n=1), Group B streptococcus (n=2), E. coli (n=1), P. aeruginosa (n=1), and suspected fungal infection (n=5). Seven patients received medical treatment only while the other 18 patients also required surgical intervention. The overall fatality rate was 16% and 20% of patients had neurologic sequelae. There was no statistical association between outcomes and the factors studied. CONCLUSION: Although uncommon, a brain abscess is a serious disease. A high level of suspicion is very important for early diagnosis and to prevent serious consequences.

Neuropsychological Outcome after Epilepsy Surgery in Pediatric Patients / 대한소아신경학회지

PURPOSE: With this study, we evaluated the operative and neuropsychological outcomes after epilepsy surgery in children. METHODS: We studied the surgical outcomes and the possibly related factors retrospectively by reviewing the medical records of 28 patients who underwent epilepsy surgery before the age of 15 years along with the battery of neuropsychological tests. RESULTS: The mean age of seizure onset was 84.8 months, and the mean period at the surgery after the onset of seizure was 62.4 months. Among 28 patients, 15 had complex partial seizures(CPS) only, 11 CPS with secondary generalization, and two simple partial seizures in addition to CPS. The types of the surgery included anterior temporal lobectomy with amygdalo-hippocampectomy(9 patients), extra-temporal or lateral temporal resection with temporal lobectomy(16 patients), and extra-temporal resection(3 patients). Evaluating their surgical outcomes, 21 patients belonged to Engel class I, five to class II, and each one to class III and IV respectively. There was no significant difference in full scale intelligence quotient(IQ) and verbal IQ after the epilepsy surgery. However, the performance IQ was higher in the older age group after the operation(P=0.011). When the patients were divided into two prognostic groups, the Engel classification after the surgery was the only significant influencing factor(P=0.037). CONCLUSION: The intelligence quotient and memory did not deteriorate after the epilepsy surgery. The overall neuropsychological outcomes improved in about half of the patients. And it was significantly influenced by the seizure outcomes after the surgery.

Improved survival rate with decreased neurodevelopmental disability in extreme immaturity / 소아과

PURPOSE: The aim of this study was to determine whether improved survival of extremely low birth weight infants (ELBWI) was associated with decreased neurodevelopmental disability later in life, and also to identify the factors influencing this disability. METHODS: ELBWI admitted to the neonatal intensive care unit of Samsung Medical Center, survived, and followed up until the corrected age of 18 months were enrolled. They were divided into two groups according to admission time: period I (1994-1999, n=36) and period II (2000-2004, n=98). Clinical data were collected retrospectively from the medical records. RESULTS: Survival rates increased from 60.0% to 74.7%, cerebral palsy rates decreased from 22.2% to 8.2% and catch-up growth rate increased from 25.0% to 51.0% during period I and II. Despite less gestational age and birth weight, ELBWI during period II had less periventricular leukomalacia (PVL), sepsis and bronchopulmonary dysplasia compared to period I. The highest risk factors for cerebral palsy were intraventricular hemorrhage (IVH) (Grade III), failure of catch-up growth and PVL. CONCLUSION: In summary, improved viability was associated with decreased neurodevelopmental disability in ELBWI. Improved neonatal care with resultant decrease in PVL and IVH, and better nutritional support seem to be primarily responsible for this improved outcome.

Improved survival rate with decreased neurodevelopmental disability in extreme immaturity / 소아과

PURPOSE: The aim of this study was to determine whether improved survival of extremely low birth weight infants (ELBWI) was associated with decreased neurodevelopmental disability later in life, and also to identify the factors influencing this disability. METHODS: ELBWI admitted to the neonatal intensive care unit of Samsung Medical Center, survived, and followed up until the corrected age of 18 months were enrolled. They were divided into two groups according to admission time: period I (1994-1999, n=36) and period II (2000-2004, n=98). Clinical data were collected retrospectively from the medical records. RESULTS: Survival rates increased from 60.0% to 74.7%, cerebral palsy rates decreased from 22.2% to 8.2% and catch-up growth rate increased from 25.0% to 51.0% during period I and II. Despite less gestational age and birth weight, ELBWI during period II had less periventricular leukomalacia (PVL), sepsis and bronchopulmonary dysplasia compared to period I. The highest risk factors for cerebral palsy were intraventricular hemorrhage (IVH) (Grade III), failure of catch-up growth and PVL. CONCLUSION: In summary, improved viability was associated with decreased neurodevelopmental disability in ELBWI. Improved neonatal care with resultant decrease in PVL and IVH, and better nutritional support seem to be primarily responsible for this improved outcome.

Effects of MK-801 (dizocilpine) on Brain Cell Membrane Function and Energy Metabolism in Experimental Escherichia coli Meningitis in the Newborn Piglet

We evaluated the efficacy of non-competitive N-methyl-D-aspartate receptor antagonist MK-801 (dizocilpine) as an adjuvant therapy in experimental neonal bacterial meningitis. Meningitis was induced by injecting 10(6) colony forming units of Escherichia coli into the cisterna magna. MK-801 3 mg/kg was given as a bolus intravenous injection, 30 min before the induction of meningitis. MK-801 did not down-modulate the inflammatory parameters, such as increased intracranial pressure, cerebrospinal fluid (CSF) leukocytosis, increased lactate and TNF-alpha levels in the CSF, and hypoglycorrhachia observed in the meningitis group. MK-801 did not significantly attenuate the elevated glutamate concentration in the CSF. However, MK-801 showed some neuroprotective effects as evidenced by significant attenuation of cerebral lipid peroxidation products (conjugated dienes) and increase of brain high-energy phosphate compounds (ATP and PCr). Improvement in cerebral cortical cell membrane Na+, K+ -ATPase activity did not reach a statistical significance. These results suggest that MK-801 was effective in ameliorating brain injury in neonatal bacterial meningitis, although it failed to attenuate the inflammatory responses.

Changes in the Outcomes of Very Low Birth Weight Infants

PURPOSE: The outcomes of infants weighing less than 1,500 gm(very low birth weight infant : VLBWI) reflect recent progress in neonatal intensive care. In this study, we analyzed changes over time in survival rate and morbidity of VLBWIs during the past seven years. METHODS: A retrospective review of medical records was analyzed for VLBWIs admitted to the neonatal intensive care unit of Samsung Medical Center within three days from birth. We compared the outcomes of previous corresponding data(period I : Oct. 1994 to Sept. 1996), with the outcomes of period II(Oct. 1996 to Dec. 1998) and period III(Jan. 1999 to Dec. 2000). RESULTS: As shown in Tables 1 and 3, the distribution of birth weight, gestational age(GA), gender, and inborn admissions did not change during the 7-year study. The overall survival rate of VLBWI increased significantly over time(period I : 72% vs period III : 88.3%, P<0.05). Between period I and period II, the birth weight-specific survival rate increased by 23.6%(75% vs 92.7%, P<0.05) for infants 1,000 to 1,249 gm. Between period II and period III, the birth weight-specific survival rate increased three times(20% vs 66.7%, P<0.05) for infants <750 gm. The survivors of lowest birth weight included infants at 624 gm(GA : 26(+5) weeks), 667 gm(GA : 25(+6) weeks) and 480 gm(GA : 26(+2) weeks) in each period. The gestational age-specific survival rate in period III increased significantly in GA 25-26 weeks and 29-30 weeks(vs period I and period II, P<0.05). The survivors of lowest gestational age included infants at GA 26 weeks(970 gm), GA 23(+5) weeks(791 gm) and GA 24(+1) weeks(740 gm) in each period. The incidence of severe IVH(grade III, IV) and the early death rate(

Developmental Test in Children

No abstract available.

Nerve Conduction Studies in the Patients with Mucopolysaccharidoses

OBJECTIVE: To evaluate the characteristics of peripheral nervous system involvement in patients with mucopolysaccharidoses (MPS). METHOD: Electrophysiologic studies were performed in 26 children with MPS confirmed by semiquantitative MPS study, high resolution electrophoresis and enzyme assay. The age distribution of the patients were 2 to 18 year old (mean 8.2 year old). RESULTS: Of the 26 children, 21 children (80.8%) showed abnormal electrophysiologic finding. Eighteen children had median entrapment neuropathy at wrist level (carpal tunnel syndrome), 3 children had demyelinating peripheral polyneuropathies dominant in motor nerves. CONCLUSION: The most prominent features of the peripheral nervous system involvement in MPS patients were entrapment neuropathy at wrist but concomittent peripheral polyneuropathy. Further studies would be necessary to clarify the characteristics of the peripheral polyneuropathy in MPS.

Effect of hypothermia on brain cell membrane function and energy metabolism after transient global hypoxia-ischemia in the newborn piglet

This study was done to determine the effects of hypothermia on brain cell membrane function and energy metabolism after transient hypoxia-ischemia (HI) in the newborn piglet. Cerebral HI was induced by temporarily complete occlusion of bilateral common carotid arteries with surgical clips and simultaneous breathing with 8% oxygen for 30 min, followed by release of carotid occlusion and normoxic ventilation for 4 hr. Rectal temperature was maintained between 38.0 and 39.0 degrees C in normothermic groups, and between 34.0 and 35.0 degrees C in hypothermic groups for 4 hr after HI. During HI, heart rate, glucose and lactate level in the blood and cerebrospinal fluid increased, and base excess, pH and blood pressure decreased significantly in both normothermic and hypothermic groups. After HI, these abnormalities returned to normal in normothermic group, but lactic acidosis persisted in hypothermic group. Decreased cerebral Na(+),K(+)- ATPase activity and increased lipid peroxidation products, indicative of HI- induced brain injury, were more profound in hypothermic group than in normothermic group. Brain ATP and phosphocreatine levels were not different between normothermic and hypothermic groups. In summary, hypothermia applied immediately after HI for 4 hr did not improve the recovery of brain cell membrane function and energy metabolism in the newborn piglet.

Surgically Treated Intractable Child Epilepsy with Focal Cortical Dysplasia : Clinical and Electroencephalographic Findings

PURPOSE: Widespread use of MRI now gives us increased insights into the different expressions of cortical malformations. We carried out this study to characterize the clinical and EEG features of focal cortical dysplasia(FCD) which also caused intractable epilepsy requiring surgical treatment. METHODS: A retrospective analysis was conducted in 8 children. The history of seizures, imaging studies, electroencephalographic findings, pathologic results, and surgical outcomes were reviewed. RESULTS: The onset ages of clinical seizure were from 4 days after birth to 36 months. The fre quency of seizures were from multiple times a day to a few times a month. Five out of 8 FCD patients had global developmental delays with more degrees of delay in language. Only 2 out of 8 patients showed clinical partial seizures only. The scalp EEG disclosed localized interictal epileptiform activity in all 8 patients and localized continuous slow waves in 7 out of 8 patients. Ictal scalp EEG onset demonstrated a predominantly localized EEG seizure activity in 6 patients. Ictal invasive EEG findings were variable in each patient and the patterns of ictal EEG were demonstrated. Five out of 8 patients became seizure-free. One patient had one episode of seizure during the 16 months follow up period. Two patients did not have significant relief from seizures. CONCLUSION: The patients with FCD had varied spectrums of clinical manifestation, MRI and EEG findings. Five out of 8 FCD patients had complete relief from seizures, one patient has had one short, simple, partial seizure since surgery, but 2 patients with FCD in the frontal area did not experience significant relief from seizures.

Clinical Evaluation of Cyclic Vomiting Syndrome

PURPOSE: To obtain basic data on cyclic vomiting syndrome(CVS) and clinical findings of CVS. METHODS: Fifteen patients diagnosed as CVS from April 1995 to July 1999 were enrolled in this study. RESULTS: Among 15 children with CVS(11 boys, 4 girls), 4 patients were put in the migraine group and 11 patients in non-migraine group. The onset age ranged from 7 months to 11.4 years(mean: 5.5 years). The prodromal symptoms of the migraine group were headache, flank pain and unpleasant feeling, and those of the non-migraine group were abdominal pain and dizziness. Vomiting began at characteristic times specific for each individual in 73% of patients; in the migraine group, 75% had syrnptoms on arising in the morning. In the non-rnigraine group, 36% were wakened during the night and 27% had symptoms on arising in the morning and 9% had episodes beginning at other characteristic tirnes and the rernaining 27% at no characteristic times. Durations of episodes were of fairly uniform length and mostly between 2 days and 10 days. In regards to precipitating factors, stress was the most frequently mentioned and other reported precipitants included infections, and sensitivity to food and hot or cold weather. Continuous vomiting causes ketosis, electrolyte irnbalance, poor growth, peptic esophagitis and other cornplications, including learning problems and psychosocial dysfunction. Both groups had positive response to prokinetic agents. CONCLUSION: There was no clinical differences between the migraine group and non-migraine group. The response to therapy was poor, but the response to prokinetic agents was better than that to anti-migraine agents.

Two Case Reports of Spinal Muscular Atrophy(SMA) Confirmed by Molecular Genetic Studies / 대한임상병리학회지

We present two cases of the patients with spinal muscular atrophy(SMA) confirmed by molecular genetic studies. The first one is 1-year-old female child with SMA type II(Dubowitz disease) who visited pediatric outpatient for developmental delay. She presented lower extremity hypotonia which progress to upper extremities and inability to sit alone. Spinal cord MRI showed normal findings but the needle electromyography suggested the possibility of myopathy. Following muscle biopsy findings were consistent with spinal muscular atrophy and PCR-SSCP(polymerase chain reaction-single strand conformation polymorphism) analysis showed homozygous deletion of telomeric SMN(survivor motor neuron) exon 7. The second is a 19-year-old female with SMA type III(Kugelberg-Welander disease) who visited neurologic outpatient for limbs weakness. She presented slowly progressive gait disturbance without muscle atrophy. The significantly decreased motor power of proximal limbs was observed. And findings of electromyography and muscle biopsy were consistent with spinal muscular atrophy. PCR-SSCP analysis revealed homozyous deletion of exon 7 of telomeric SMN and deletion of exon 8 of centromeric SMN gene. PCR analysis for NAIP(neuronal apoptosis inhibitory protein) exon 5 and 13 revealed no deletion in both cases. Molecular genetic analysis for SMN gene will be very useful for rapid diagnosis of spinal muscular atrophy.

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.

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.

Neuroradiological Findings in a Case of Menke's Disease / 대한소아신경학회지

Menkes disease is an X-linked recessively inherited neurodegenerative disorder of copper metabolism leading to death in early childhood. This disease is characterized by low serum, liver and brain Cu levels, whereas the Cu content in nearly all other organs is increased. The main clinical features are irregular kinky hair, characteristic face, progresssive degeneration of the central nervous system, bone changes, arterial rupture and thrombosis, and instability of temperature. We have experienced a case of Menkes disease in a eight months old male patient, who manifested by seizure, developmental delay, hypotonia, characteristic hair and face along with low levels of serum copper and ceruloplasmin. We report the characteristic findings of cranial MRI and MR angiography in this Menke's patient. In cranial MRI, he showed progressive brain atrophy with subdural hemorrhage and effusion. MR angiography revealed tortuosity of vessels clearly obviating necessity of more invasive conventional arteriography in diagnosis of this disease. This study suggested that cranial MRI and especially MR angiography might be helpful in making early diagnosis of this disease.

Pediatric Moyamoya Disease: Perioperative Cerebral Blood Flow and MR Angiography Studies

To assess the role of magnetic resonance angiography(MRA) and the effect of encephaloduroarteriosynangiosis (EDAS) on the pediatric moyamoya disease(MMD), we analyzed the findings of MRA comparing with conventional angiography(CA) and cerebral blood flow(CBF) studies using 99m Tc-HMPAO SPECT or H2O15-PET with or without diamox enhancement, and focusing on changes following surgery for EDAS. Our assessment involved 23 children with MMD, in whom 44 EDAS procedures were performed. On MRA compared with CA, stenosis of internal carotid arteries was accurately visualized in eight of 19 hemispheres (42%) and augmented in 11(58%). The visualization of basal moyamoya vessels was accurate in ten hemispheres (53%), underestimated in seven(37%) and non-visualized in two(11%). Changes in the middle and anterior cerebral artery were similarly visible in both MRA and CA studies. Evaluation of postoperative MRA showed that at the site of surgery, the major change was dilation of the superficial temporal artery, seen in 89% of cases; the presence of anastomoses in this artery was confirmed in 13 of 19 hemispheres(68%). In comparison with perioperative CBF studies, basal CBF improved in 23 of 36 hemispheres(64%) within one year of surgery. In particular, early improvement of basal CBF, within 3 months, was observed in seven hemispheres(30.4%). CBF studies with diamox enhancement showed that after surgery, vascular reserve was normal or improved in eight of 12 hemispheres(67%). In conclusion, it may be stated that although definitive diagnosis requires further improvement in the delineation of fine vasculature, MRA promises to become a useful alternative to conventional angiography in the diagnosis and postoperative evaluation of MMD. To understand the effects of surgery on MMD, perioperative CBF studies are mandatory.

Epileptogenic Zones in Intractable Epilepsy Patients with Dysembryoplastic neuroepithelial tumor

BACKGROUNDS: A dysembryoplastic neuroepithelial tumor (DNT) is an important cause of the intractable epilepsy. The prognosis after epileptic surgery was excellent when the epileptogenic zones were completely excised. But, the exact epileptogenic zones in epilepsy patients with DNT are not well known. The purpose of this study was to investigate where the epileptogenic zones were in epilepsy patients with DNT. That results might be helpful in having good results of epileptic surgery of DNT. METHODS: Six patients with medically determined intractable epilepsy due to DNT were studied retrospectively. They had undergone epileptic surgery after video-EEG monitoring not only with scalp electrodes but also with invasive subdural electrodes. DNTs were located in the temporal lobe and pathologically proven in all patients. We analyzed distributions of ictal onset zones and irritative zones with non-invasive and invasive Video-EEG monitoring. Also, we reviewed the clinical features, neuroimaging features, neuropsychological tests, Wada tests and pathological findings. The operative strategy included complete resection of DNT, ictal onset and irritative zones in all patients. In two patients, modified operative strategy including amygdalohippocampectomy was done due to mesial involvement. A modified Engel's classification was used to determine surgical outcomes. RESULTS: The irritative zones (included only more than 10% of total interictal discharges during the monitoring) showed various patterns from multifocal to unobserved. Ictal onset zones were multiple in 5 patients (dual: 3 patients, triple: 2 patients). In 1 patient, contralateral hemispheric mirror focus was observed. Mesial temporal involvement was seen in 2 patients from EEG and in 1 patient from pathology. There were discrepancies between ictal onset zones and irritative zones in 4 patients. The EEG seizures without clinical events were recorded in 1 patient. Postoperatively 5 patients were free of seizure, 1 patient had rare seizures. CONCLUSION: Not only the wide or multiple distribution of epileptogenic zones around or in the lesion but also dual pathology of hippocampus are possible in epilepsy patients with DNT. The operative strategy including the epileptogenic zones can yield a good surgical outcome.

Dysembryoplastic Neuroepithelial Tumors in Children with Intractable Seizures: Report of Two Cases / 대한소아신경학회지

We report 2 cases of pediatric DNTs which presented with intractable seizures and no other associated neurologic abnormalities. They showed typical appearance of DNTs on neuroimaging and histopathology. Most patients with DNT can be cured by surgical treatment with exellent outcome and do not need ratio- or chemotheraphy. This study indicates that it is quite important to consider DNTs as one of differential diagnoses in patients with intractable seizures especially when they present only with seizures without other neurologic symptoms.

A Study on Survival in the Very Low Birth Weight Infants Received Neonata Intensive Care in Two Years

PURPOSE: Recent progress in neonatal intensive care has led to increased survival of infants weighing less than 1500 gm. Many studies to declining sequelae of intensive care, addition to increasing survival, were made. So, we investigated particulary the relationship between survival and birth weight, gestational age, and factors associated with morbidities. METHOD: The retrospecitve review of medical records was analyzed for 92 VLBW infants(birth weight <1,500gm) who were admitted to the neonatal intensive care unit of Samsung seoul hosptial from 1994 to 1996. We compared the outcomes of 32 VLBW infants between October 1994 and September 1995 (period I), with the outcomes of 60 VLBW infants between October 1995 and September 1996 (period II). RESULTS: 1) The incidence of VLBW infants was 1.01% in period I and 1.55% in period II. The overall survival rate increased to 76.7% in period II, compared with 71.9% in period I. 2) By birth weight, the highest survival rate was 100% at 750gm in peeriod I, and 86.4% at 1000 to 1249gm in period II. The survival rate at birth weight 1000 to 1249 gm increased significantly in period II. According to gestational age, the highest was at 31-32 weeks(85.7%) in period I, and at 29-30 weeks(88.9%) in period II. 3) The male : female ratio was 1:1 in period I versus 1:1.07 in period II. There was no significant difference in sex and mode of delivery. 4) The most common major morbidity occurred in VLBW infants was respiratory distress syndrome (65.6% in period I, 53.3% in period II). 5) There was no difference of neonatal death rate during period I, while 2-3 days after birth was the highest(30.0%) during period II. Major causes of death, during both periods, were infection and respiratory distress syndrome and/or its sequelae. CONCLUSION: This report demonstrates marked increased survival rate than previous other reports and especially during period II. With increasing survival, more attention to neonatal sequelae, including chronic lung disease and neurodevelopmental delay, is required.

A study of trinucleotide repeat expansions in myotonic dystrophy

PURPOSE: The trinucleotide repeat expansion in the 3' untanslated resion of the gene is known to be the cause of myotonic dystrophy which is one of most common neurodegenerative disorder manifested by myotonia, cataract, mental retardation and even respiratory distress in neonates. The hereditary pattern of myotonic dystrophy shows more severe symptoms and shows earlier onset with successive generations and congenital cases, the most severe form of myotonic dystrophy,. Occurs by maternal transmission. This genetic transmission mode does not follow Mendelian genetic trait. To find the molecular genetic abnormalities of Korean myotonic dystrophy patients, we investigated the general distribution of myotonic dystrophy alleles and compared the results with referred patients. METHODS: During an 8 month study, from June 1995 to February 1996, 5 patients were referred with presumed diagnosis of myotonicdystrophy. Among these patients, four cases were confirmed to have the disease by clinical and electrophysiological findings. We included family members of the studied probands and 50 normal blood donor DNAs were included as controls. The DNAs of the enrolled cases were evaluated by Southern blot. Subsequently, copy numbers of the repeats were determined using PCR amplification. RESULTS: (1) Two peaks were found in the distribution of trinucleotide repeats in the normal Korean population. One peak had 5 copies and the other had 11 to 13 copies. The highest number of copies was 27. (2) Of the referred cases, 4 pedigrees showed typical expanded repeats. (3) The minimum expanded copy number was 55 and we were able to detect the expanded band only by PCR in 2 cases. In other cases, expaded bands were visible by Southern blotting. (4) There were trend of earlier onset of the disease, progressive worsening symptoms and larger expanded bands with successive generations. CONCLUSION: We established the methodology for myotonic dystrophy DNA diagnosis using Southern blot and PCR amplification based on the normal Korean allele distribution. These methods might be useful in genetic counselling and detection of minimally affected myotonic dystrophy patients.