A Case Report on 30-Week Premature Twin Babies with Congenital Myotonic Dystrophy Conceived by In Vitro Fertilization

Congenital myotonic dystrophy type 1 (DM1) presents severe generalized weakness, hypotonia, and respiratory compromise after delivery with high mortality and poor prognosis. We presented a congenital DM1 of premature twins in the 30th week of gestation. These twins were conceived by in vitro fertilization (IVF). Both babies presented apnea and hypotonia and had characteristic facial appearance. They were diagnosed DM1 by genetic method. They were complicated by chylothorax and expired at 100 and 215 days of age, respectively. Mother was diagnosed DM1 during the evaluation of babies. This is the first report on congenital DM1 which accompanied the chylothorax. More investigation on the association with chylothorax and congenital DM1 is recommended. With a case of severe neonatal hypotonia, congenital DM1 should be differentiated in any gestational age. Finally, since DM1 is a cause of infertility, we should consider DM1 in infertility clinic with detailed history and physical examination.

Clinical characteristics and courses of congenital muscular torticollis / 소아과

PURPOSE: Congenital muscular torticollis (CMT), a common musculoskeletal disorder in infants, is characterized by the rotation and flexion deformity of the neck caused by sternocleidomastoid muscle shortening. We investigated the clinical courses and perinatal risk factors of CMT. METHODS: Less than 6-month-old patients (98; M:F = 60:38) diagnosed with CMT between February 2007 and August 2008 were classified into 2 clinical subgroups, namely, SMT (sternocleidomastoid tumor) and POST (postural torticollis). All the patients were physically and neurologically examined prospectively and their cervical X-rays and ultrasonographies were obtained. Their medical histories about perinatal problems were recorded. Of the 98 patients, 45 with normal range of motion were taught passive physical exercises and 43 were referred to the Department of Rehabilitation for undergoing manual stretching therapy. RESULTS: The mean age at initial assessment was 2.2 months (SMT: 1.4+/-1.0, POST: 2.7+/-1.6). SMT presented earlier than POST. All ophthalmologic examinations and cervical X-rays were normal. SMT was associated with higher incidence of caput succedaneum and cephalhematoma. POST was highly associated with plagiocephaly. Mean duration of rehabilitative physical therapy was 3.7 months (SMT: 4.6+/-2.5, POST: 2.6+/-1.9). POST resolved earlier than SMT. Of the 88 patients with follow-up, 87 had total resolution and only 1 had residual torticollis. CONCLUSION: All the patients received early treatment with passive stretching exercises. CMT was associated with perinatal problems and had various risk factors such as obstetrical problems.

Clinical characteristics and courses of congenital muscular torticollis / 소아과

PURPOSE: Congenital muscular torticollis (CMT), a common musculoskeletal disorder in infants, is characterized by the rotation and flexion deformity of the neck caused by sternocleidomastoid muscle shortening. We investigated the clinical courses and perinatal risk factors of CMT. METHODS: Less than 6-month-old patients (98; M:F = 60:38) diagnosed with CMT between February 2007 and August 2008 were classified into 2 clinical subgroups, namely, SMT (sternocleidomastoid tumor) and POST (postural torticollis). All the patients were physically and neurologically examined prospectively and their cervical X-rays and ultrasonographies were obtained. Their medical histories about perinatal problems were recorded. Of the 98 patients, 45 with normal range of motion were taught passive physical exercises and 43 were referred to the Department of Rehabilitation for undergoing manual stretching therapy. RESULTS: The mean age at initial assessment was 2.2 months (SMT: 1.4+/-1.0, POST: 2.7+/-1.6). SMT presented earlier than POST. All ophthalmologic examinations and cervical X-rays were normal. SMT was associated with higher incidence of caput succedaneum and cephalhematoma. POST was highly associated with plagiocephaly. Mean duration of rehabilitative physical therapy was 3.7 months (SMT: 4.6+/-2.5, POST: 2.6+/-1.9). POST resolved earlier than SMT. Of the 88 patients with follow-up, 87 had total resolution and only 1 had residual torticollis. CONCLUSION: All the patients received early treatment with passive stretching exercises. CMT was associated with perinatal problems and had various risk factors such as obstetrical problems.

Clinical Characteristics of Acute Transverse Myelitis in Childhood

PURPOSE: We performed this study to investigate clinical and radiological features, CSF findings, clinical courses and prognostic factors of acute transverse myelitis(ATM) in pediatric patients. METHODS: A retrospective review of the medical records was performed for 15 patients with ATM under the age of 16 years from January 1997 to January 2007. RESULTS: The mean age at onset was 9.3+/-4.4 years, and the male to female ratio was 1.5:1. During the initial phase, the common presenting symptoms were back pain, abdominal pain, leg pain and weakness. Motor deficits progressed in all patients and urinary difficulty was found in 13 patients(86.7%). CSF leukocytosis was found in four patients and protein was elevated in nine patients among the 12 patients who underwent CSF study. On spine MRI, high signal intensity in T2-weighted image was mainly identified at the cervicothoracic level in 11 patients(73.3 %). According to Paines scale, 11 patients(73.3%) had normal or good outcomes. Favorable outcomes were associated with shorter duration of maximal neurologic deficits, an early recovery, and shorter interval to independent walking. In this study, we described two patients suffering from relapsing myelits without any association with a systemic disease. One patient was diagnosed as idiopathic recurrent transverse myelitis(IRTM) and the other was re-diagnosed as multiple sclerosis(MS). CONCLUSION: The prognosis of ATM in childhood is better than that reported for adults. The clinical symptoms and the extent of lesions in MRI were not correlated with outcomes. However earlier recovery was significantly associated with favorable outcomes.

Two Cases of Tuberous Sclerosis with Cardiac Rhabdomyoma Diagnosed by Prenatal Ultrasound

Tuberous Sclerosis is an autosomal-dominant neurocutaneous disorder with a clinical triad of seizures, mental retardation and adenoma sebaceum, and the incidence is approximately one in 15,000 to 30,000 live births. The condition can be suspected if multiple cardiac rhabdomyomas are seen on fetal ultrasound. Tuberous sclerosis was subsequently confirmed by the brain ultrasound and MRI which revealed multiple nodules in the subcortical, subependymal or periventricular areas. We experienced two cases of antenatal tuberous sclerosis was diagnosed by ultrasound. One case was diagnosed with tuberous sclerosis at birth, the other case was confirmed with tuberous sclerosis during follow up brain ultrasound. We report these cases with brief review of related literatures.

Etiology and Clinical Features of Viral Lower-respiratory Tract Infections in Children in Winter, 2003 / 소아과

PURPOSE: This study was performed to characterize the etiology and clinical features of acute viral lower-respiratory tract infections (LRI). METHODS: Etiologic agents and clinical features of acute viral LRI were studied from October. 2003 through March. 2004 in hospitalized children with LRI (253 cases) at Samsung Cheil Hospital. The viruses were identified by indirect immunofluorescent method. Medical records of patients with proven viral LRI were reviewed retrospectively. RESULTS: Ninety two cases (36.4%) were confirmed as viral infections. The identified pathogens were respiratory syncytial virus (RSV, 76.0%), adenovirus (ADV, 12.0%), influenza virus type A (INFA, 9.8 %), influenza virus type B (INFB, 1.1%) and parainfluenza virus (PIV, 1.1%). Eight four point eight% of patients were younger than 2 years of age. Clinical diagnosis of LRI were pneumonia (56.5%), bronchiolitis (35.9%), tracheobronchitis (4.3%) and croup (3.3%). The clinical symptoms and signs were cough (98.8%), rhinorrhea (82.6%), fever (70.7%), rale (67.4%), wheezing (29.3%), chest retraction (28.3%) and cyanosis (4.3%). The severe respiratory symptoms and signs were more common in RSV-infected patients, even cyanosis could be observed. Seventeen point four percent of patient had fever of 38.5degrees C or higher and their most common etiologic agent was INFA (66.7%). Twenty three point nine percent had fever more than 5 days and common etiologic agent was INFA (77.8%). The elevated WBC count (> 14x10 (3)/microliter) was in 14.1%, and common etiologic agents were INFA (22.2%) and ADV (18.2%). C-reactive protein (CRP > 4.0 mg/dL) was increased in 13.0%, and common in ADV (63.6 %). Increased aspartate aminotransferase (AST)/alanine aminotransferase (ALT) was detected in 10.9%, and the most common etiologic agent was RSV (12.9%). CONCLUSION: The common agents of acute viral LRI were RSV, ADV and INF, respectively. Because the etiologic agents present variable clinical features, it may be helpful to treat and to evaluate acute viral LRI that we should understand their etiologic variability.

Antibiotic Sensitivity to the Major Causative Organisms of Acute Urinary Tract Infection in Children / 소아과

PURPOSE: We studied the changes in antibiotic sensitivity to the causative organisms of urinary tract infection (UTI), in order to provide useful information on the choice of adequate drugs in the treatment of UTI. METHODS: We retrospectively analyzed the major causative organisms and their antibiotic sensitivities in 69 patients diagnosed with UTI in the Department of Pediatrics, Samsung Cheil Hospital from 2002 to 2003. RESULTS: The frequency of UTI was the highest in infants younger than 1 year of age (88.4 percent). The male to female ratio was 3.05: 1. Escherichia coli was the most frequent organism (78.3 percent), followed by Klebsiella (116 percent), Pseudomonas (2.9 percent), Proteus (2.9 percent), Enterobacter, Morganelle, and Enterococcus (1.4 percent) in descending order. Antibiotic sensitivity of gram negative organisms was above 90 percent against imipenem, amikacin, 80 percent against aztreonam, cefepime, ceftriaxone, 50-70 percent against gentamicin, trimethoprime-sulfamethoxazole (TMP/SMX), and 23 percent against ampicillin (23.4 percent). CONCLUSION: Antibiotict sensitivity of gram negative organisms was high to amikacin and third generation cephalosporins but low to ampicillin, gentamicin and TMP/SMX. The use of ampicillin or TMP/SMX, as the first choice of the empiric and prophylactic treatment for UTI, should be reconsidered and investigated further.

Clinical Study of Perinatal Infarcts / 대한주산의학회잡지

OBJECTIVE: Perinatal infarcts are an important cause of neonatal neurologic morbidity accounting up to 10~20% of neonatal seizures and annual incidence rate is about one in 4,000 live births. The purpose of this study is to describe the clinical presentation, course, radiologic and Electroencephlogram (EEG) findings and to evaluate the neurologic outcome of cerebral infarcts. METHODS: Between January 2000 to May 2004, 8 of 40,204 delivered newborns (0.02%) were diagnosed as having cerebral infarcts. The clinical presentation, course, radiologic and EEG findings were characterized by retrospective chart review and neurological outcome was evaluated by neurological examination and developmental test (Bayley Scales of Infant Development-II) at out-patient department. RESULTS: There were 5 males and 3 females. Six cases of them were full term, and other 2 cases were near-term neonates. Five cases presented neonatal seizure and 3 presented apnea or respiratory distress. All cases showed abnormal finding in the cranial ultrasonography that was performed immediately after the first symptoms. After then, diagnosis of cerebral infarct was confirmed by computed tomography and magnetic resonance imaging. Abnormal EEG finding was found in the 4 cases and a correlation between the location of these abnormalities and cerebral infarcts existed. The location of infarct was on the left hemisphere in five of the 8 cases and predominantly in the distribution of the middle cerebral artery. 7 cases were followed and the mean duration of follow up was 17 months (range 3~42 months). Neurologic outcome was normal in 3 cases and abnormal in 4 cases. Mild hemiparesis was present in 3 cases and recurrent epilepsy in 1 case. Developmental test was performed in 4 cases, all of them were normal. CONCLUSION: Neonatal seizure is an important presentation as the first sign of perinatal infarcts and cranial ultrasound can be used for initial evaluation of these perinatal infarcts. Neuological sequelae remains over half of the patients. Performing long term follow-up study of large cohort study is needed.

The Developmental Outcome of Fetal Mild Isolated Ventriculomegaly / 소아과

PURPOSE: This study is directed to evaluate standardized developmental test performances of infants and children who, as fetuses, had mild isolated cerebral ventriculomegaly diagnosed by ultrasound. METHODS: All prenatal sonographic findings from 2001 to 2002 were evaluated. Live isolated mild ventriculomegaly (IMVM) of 10-15 mm were observed in 95 cases (1.1 percent). Standardized developmental testing of 40 cases of IMVM and 36 cases in a comparison group were offered to parents Both groups of children were adjusted to normal antepatum subjects with respect to sex, race, indication for ultrasound and gestational age at the time of ultrasound. Test of cognitive and motor development (Bayley Scales of Infant Development, Second Edition; BSID-II) were administered by developmental examiners. RESULTS: Forty cases and 34 comparison sujects completed the testing. The IMVM and comparison groups were similar with respect to parental age, gestational age, birth weight, familial socioeconomic status. The IMVM subjects scored lower than the comparison group on both the BSID-II, but there was not statistically significant. differences; metal development index (MDI) (92.7+/-12.9 vs 94.7+/-14.1, P=0.47) and psychomotor development index (PDI) (100.3+/-14.1 vs 101.3+/-10.7, P=0.75). Eleven cases (27.5 percent) of IMVM group and five cases (14.7 percent) of the comparison group were developmentally delayed, but most cases in both groups showed mild delays. Resolution or lack of progression, lateral ventricle diameter < or= 12 mm and females were associated with better scores, but there were not statistically significant. Polarity, and head circumference were not related to later development. CONCLUSION: This study show children with MIVM did not delay performance in the developmental test, but we might suggest a tendency to increase the risk of mild developmental delay.