Interstitial pulmonary emphysema is a well-documented complication of assisted mechanical ventilation in premature infants with respiratory distress syndrome. Localized persistent interstitial pulmonary emphysema (LPIPE) confined to a single lobe was incidentally presented in a 4-day-old female infant. This patient was a normal full-term baby with no respiratory distress symptom and no experience of assisted mechanical ventilation. Chest radiograph showed radiolucent area in right lower lobe zone, which needed differential diagnosis from other congenital lesions such as congenital cystic adenomatoid malformation and congenital lobar emphysema. CT scan showed irregular-shaped air cystic spaces and pathologically, cystic walls primarily consisted of compressed lung parenchyma and loose connective tissue intermittently lined by multinucleated foreign body giant cells.
Diagnosis, Differential ; Female ; Human ; Infant, Newborn ; Infant, Newborn, Diseases/*pathology/radiography ; Pulmonary Emphysema/*pathology/radiography

OBJECTIVEAbdominal distention is a common disorder in newborns, which can be life-threatening in severe cases. Currently, little literature is available regarding early identification of the etiology of this disorder in newborn babies, which is imperative to reducing the likelihood of serious consequences. This retrospective study was conducted to analyze the clinical characteristics of early newborns with abdominal distention, aiming at identifying the underlying etiologic factors.

METHODSMedical records of 201 (65 premature and 136 full-term) early newborns with abdominal distention between January 2011 and December 2012 were retrieved.

RESULTSCongenital malformations (including congenital megacolon, anal atresia, malrotation, intestinal atresia, intestinal duplication and posterior urethral valves) occurred in 44.6% of the premature newborns with abdominal distention and 61.8% of the full-term newborns with the disorder. Congenital megacolon was the number one cause of abdominal distention in the full-term group (33.8%) and the number two cause in the preterm group (13.8%). As far as other individual abnormalities were concerned, sepsis was the number one cause of abdominal distention in the preterm group (35.4%) and the number two cause in the full-term group (21.3%). Vomiting was a main symptom associated with abdominal distension, occurring in 64.0% of the full-term newborns and 44.6% of the preterm newborns. The most pronounced X-ray manifestation was bowel distention with an air-fluid level in the preterm group (47.7%) but was bowel distention without a fluid level in the full-term group (57.3%). Eliological and symptomatic treatment was effective in 86.2% of the premature cases and 88.2% in the full-term cases (P>0.05).

CONCLUSIONSCongenital malformations may be the major cause of abdominal distension in early newborns. Sepsis and congenital megacolon are the single disease most frequently associated with abdominal distention in preterm and full-term newborns respectively. Vomiting is a main accompanying symptom in early newborns with abdominal distention. X-ray manifestations seem to be more severe in preterm newborns than in full term newborns. A satisfactory outcome can be achieved after treatment in both preterm and full-term newborns with this disorder.

Abdomen ; pathology ; Dilatation, Pathologic ; Female ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases ; diagnosis ; Male ; Radiography, Abdominal

Congenital pulmonary lymphangiectasia (CPL) is a rare lymphatic pulmonary abnormality. CPL with respiratory distress has a poor prognosis, and is frequently fatal in neonates. We report a case of pneumonectomy for CPL in a newborn. An infant girl, born at 39 weeks' after an uncomplicated pregnancy, exhibited respiratory distress 1 hr after birth, which necessitated intubation and aggressive ventilator care. Right pneumonectomy was performed after her symptoms worsened. Histologic examination indicated CPL. She is currently 12 months old and developing normally. Pneumonectomy can be considered for treating respiratory symptoms for improving chances of survival in cases with unilateral CPL.
Female ; Gestational Age ; Humans ; Infant, Newborn ; Lung/pathology ; Lung Diseases/*congenital/diagnosis/pathology/radiography ; Lymphangiectasis/*congenital/diagnosis/pathology/radiography ; Lymphatic Vessels/pathology ; Tomography, X-Ray Computed

We report a case of epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM), which was associated with congenital pyloric atresia (PA) and various urologic abnormalities, a diagnosis confirmed by immunofluorescence mapping and electron microscopic findings. Immunofluorescent mapping showed the serum from a patient with bullous pemphigoid faintly binding to the floor of the blister, and monoclonal antibodies against type IV and VII collagens were also stained on the floor of the blister. Electron microscopy showed epidermolytic cleavage and prominent clumping of tonofilaments in the basal and suprabasal keratinocytes. An abdominal radiograph and barium swallow showed a complete obstruction at the pyloric channel level. The widespread bullae healed without any scar formation and the bullae formation was localized on the extremities after 3 months of age without any specific treatment. Multiple urologic abnormalities such as bilateral hydronephrosis, hydroureter and a distended bladder with trabeculation were observed at 12 months of age. Currently, with the patient at 4 years of age, bullae still appear on the hands and feet and nail shedding can be observed. The patient's father, a paternal uncle and a paternal aunt had had similar bullous eruptions in infancy, all of which had improved spontaneously by the age of one.
Case Report ; Collagen/metabolism ; Epidermolysis Bullosa Simplex/pathology ; Epidermolysis Bullosa Simplex/metabolism ; Epidermolysis Bullosa Simplex/complications* ; Human ; Infant, Newborn ; Male ; Pylorus*/radiography ; Stomach Diseases/radiography ; Stomach Diseases/complications* ; Urologic Diseases/congenital* ; Urologic Diseases/complications*

We undertook a multi-hospital collective study to evaluate outcomes of neonatal respiratory distress syndrome (RDS) patients treated with pulmonary surfactant (PS) over 17 yr in Korea (Group I; 1990/91, Group II; 1996, Group III; 2002, and Group IV; 2007). There were 60 neonates in Group I (16 hospitals), 1,179 in Group II (64), 1,595 in Group III (62), and 1,921 in Group IV (57). We adopted Bomsel's classification to evaluate initial chest radiographic findings, categorized RDS severities, and classified response types to PS therapy. Almost all cases were treated using a single dose in Groups I and II, but 19.5% received multiple-dose therapy in Group IV. In Group IV, Bomsel's stages III and IV composed 62.9% and initial severities of mild, moderate, and severe RDS were 23.0%, 42.0%, and 35.0%. More infants showed good response in Groups II, III, and IV than in Group I (71.7%, 66.8%, and 69.2% vs. 58.3%). Complications and mortality rate were lower in Group IV than in Groups I, II, and III (mortality rate: 14.3% vs. 40.0%, 30.0%, and 18.7%). We conclude that PS therapy in neonates with RDS had a remarkable impact on improving clinical course and outcomes over 17 yr in Korea.
Birth Weight ; Female ; Gestational Age ; Humans ; Infant, Newborn ; Infant, Premature, Diseases/epidemiology/mortality/pathology/*therapy ; Korea/epidemiology ; Longitudinal Studies ; Pregnancy ; Pulmonary Surfactants/*therapeutic use ; Questionnaires ; Radiography, Thoracic ; Respiratory Distress Syndrome, Newborn/epidemiology/mortality/pathology/*therapy ; Treatment Outcome

The purpose of this study was to investigate and discuss imaging methods and management strategies for congenital choledochal cyst with co-existing intrahepatic dilation and aberrant bile duct as well as other complicated biliary anomalies. In this study we reviewed and analyzed 72 patients with congenital choledochal cyst, ranging in age from 15 days to 12 years old and who were seen at our hospital during the past 12 years, from January 1993 to October 2005. The image manifestation and clinical significance of patients with co- xisting intrahepatic biliary dilation and aberrant bile duct were carefully examined during operation via MRCP, cholangiography and choledochoscope. Twenty-two cases (30.1%) presented with intrahepatic bile duct dilation and 12 of these were of the cystic type. That is, the orifice of the dilated intrahepatic tract that converged into the common hepatic duct showed membrane or septum-like stenosis. In 10 cases the dilation tapered off from the porta hepatis to the initiating terminals of the intra-hepatic bile ducts and was not accompanied by stenosis. An aberrant bile duct was observed in 2 of the cases. In 3 cases, the right and left hepatic ducts converged at the choledochal cyst. In conclusion, the imaging methods for intrahepatic bile duct dilation possess important clinical significance. Further, for hepatojejunostomy with radical excision of a choledochal cyst, additional operative procedures for intrahepatic stenosis, possible bile duct malformation and pancreaticobiliary common duct calculi can potentially reduce postoperative complications.
Tomography, X-Ray Computed ; Postoperative Complications/ultrasonography ; Male ; Liver Diseases/complications/*radiography/surgery ; Infant, Newborn ; Infant ; Humans ; Female ; Choledochal Cyst/complications/*radiography/surgery ; Cholangiography ; Child, Preschool ; Child ; Bile Ducts/*abnormalities/pathology/surgery

The purpose of this study was to investigate and discuss imaging methods and management strategies for congenital choledochal cyst with co-existing intrahepatic dilation and aberrant bile duct as well as other complicated biliary anomalies. In this study we reviewed and analyzed 72 patients with congenital choledochal cyst, ranging in age from 15 days to 12 years old and who were seen at our hospital during the past 12 years, from January 1993 to October 2005. The image manifestation and clinical significance of patients with co- xisting intrahepatic biliary dilation and aberrant bile duct were carefully examined during operation via MRCP, cholangiography and choledochoscope. Twenty-two cases (30.1%) presented with intrahepatic bile duct dilation and 12 of these were of the cystic type. That is, the orifice of the dilated intrahepatic tract that converged into the common hepatic duct showed membrane or septum-like stenosis. In 10 cases the dilation tapered off from the porta hepatis to the initiating terminals of the intra-hepatic bile ducts and was not accompanied by stenosis. An aberrant bile duct was observed in 2 of the cases. In 3 cases, the right and left hepatic ducts converged at the choledochal cyst. In conclusion, the imaging methods for intrahepatic bile duct dilation possess important clinical significance. Further, for hepatojejunostomy with radical excision of a choledochal cyst, additional operative procedures for intrahepatic stenosis, possible bile duct malformation and pancreaticobiliary common duct calculi can potentially reduce postoperative complications.
Tomography, X-Ray Computed ; Postoperative Complications/ultrasonography ; Male ; Liver Diseases/complications/*radiography/surgery ; Infant, Newborn ; Infant ; Humans ; Female ; Choledochal Cyst/complications/*radiography/surgery ; Cholangiography ; Child, Preschool ; Child ; Bile Ducts/*abnormalities/pathology/surgery

OBJECTIVETo investigate the association of ATP-binding cassette transporter A3 (ABCA3) gene mutations with severe neonatal respiratory distress syndrome (NRDS) and lung disease in children.

METHODThirty-eight children hospitalized with respiratory disorders in Children's Hospital of Chongqing Medical University from January 2010 to December 2011 were screened. Two mutations (E292V, G1221S) in the ABCA3 gene were identified. Interstitial lung disease (ILD) was present in 10 cases, NRDS was found in 23 and congenital pulmonary dysplasia in 5 cases. There were 24 males and 14 females, with an age range of 1 hour to 15 years. Genomic DNA was prepared from blood samples and sequences were analyzed by polymerase chain reaction (PCR). Clinical feature, imaging characteristics and the results of gene detection were retrospectively analyzed.

RESULTFour cases with ABCA3 gene mutations were found; 2 patients (case 2 and case 4) had the heterozygous mutation of ABCA3 E292V. One was a 3-hour-old girl and another was a 52-day-old boy, 2 patients (case 1 and case 4) had the heterozygous mutation of ABCA3 G1221S. One was a 78-day-old boy and another was a girl, 15 years and one month old. The family history was negative for respiratory disease. Three patients (case 1, 2, 4 ) had NRDS and 2 (case 1, 2) of them were premature. One patient (case 3) had normal growth and development. She was diagnosed clinically as interstitial lung disease (ILD) after admission. The clinical outcomes of 4 cases were various. Case 1 had recurrent wheezing and inhaled corticosteroid was needed. Case 2 died because she failed to wean from mechanical ventilator. Case 3 was discharged with improvement but lost to follow-up. Case 4 grows normally.

CONCLUSIONGenetic variants within ABCA3 may be the genetic causes or background of a contributor to some unexplained refractory NRDS, and chronic lung disease developed in latter childhood. Identification of ABCA3 genetic variants in NRDS infants is important to offer genetic counseling, as well as early prognosis estimation and intervention in pediatric chronic lung disease.

ATP-Binding Cassette Transporters ; genetics ; Adolescent ; Child ; Child, Preschool ; DNA Mutational Analysis ; Exons ; Female ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Lung ; diagnostic imaging ; pathology ; Lung Diseases, Interstitial ; diagnosis ; genetics ; Male ; Mutation ; genetics ; Radiography ; Respiratory Distress Syndrome, Newborn ; diagnosis ; genetics

Brain ; diagnostic imaging ; pathology ; Cerebral Palsy ; diagnosis ; pathology ; Cognition Disorders ; diagnosis ; pathology ; Early Diagnosis ; Humans ; Infant, Newborn ; Infant, Premature ; Infant, Premature, Diseases ; diagnosis ; pathology ; Language Disorders ; diagnosis ; pathology ; Leukomalacia, Periventricular ; complications ; diagnosis ; pathology ; Magnetic Resonance Imaging ; methods ; Prognosis ; Radiography ; Severity of Illness Index

OBJECTIVETo improve the understanding of recognizing and diagnosis of neonatal necrotizing enterocolitis (NEC), imaging assessment of neonates with NEC was analyzed retrospectively.

METHODData of 211 cases of NEC were retrospectively collected from the Department of Neonatology, Children's Hospital of Chongqing Medical University between Jan.1(st) 2006-Dec.31(st) 2011.

RESULTAnalysis of abdominal X-ray of 211 cases showed that there were 40 cases (19.0%) who had no changes on each X-ray, 47 cases (22.3%) had improvement and 23 cases (10.9%) became worse. In the group of no changes, positive rate with good prognosis was 97.5% and with poor prognosis, it was 2.5%. In the group of improvement, positive rate with good prognosis was 97.9%, and the contrary was 2.1%. Positive rate with good prognosis was 56.5%, and the contrary was 43.5% in worse group. Chi-square analysis of the three groups showed χ(2) = 31.742, P < 0.01. Comparison of detection rate of pneumoperitoneum on abdominal X-ray (16.0%, 12/75) and Doppler US (1.3%, 1/75), χ(2) = 10.191, P < 0.05, portal pneumatosis on abdominal X-ray(1.3%, 1/75) versus Doppler US (12.0%,9/75), χ(2) = 6.857, P < 0.05. Surgical timing mostly corresponded to pneumoperitoneum (OR = 19.543) and intestinal obstruction (OR = 19.527) of abdominal X-ray. The logistic regression equation is y = -2.915-1.588x1+2.972x4+2.973x7 + 1.711x9 (χ(2) = 101.705, P < 0.01).

CONCLUSIONAbdominal X-ray is the most important method of diagnosis of NEC, the group of deterioration of abdominal X-ray has obvious bad prognosis differ from no change group and better group. Comparison with abdominal X-ray and Doppler US, the former in pneumoperitoneum positive rate was higher than the latter, at the same time, portal pneumatosis on Doppler US is more sensitive to abdominal X-ray, the value of two imaging assessments both supplement each other. Surgical timing mostly corresponds to pneumoperitoneum and intestinal obstruction.

Abdomen ; diagnostic imaging ; surgery ; Birth Weight ; Enterocolitis, Necrotizing ; diagnosis ; pathology ; surgery ; Female ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases ; diagnosis ; pathology ; surgery ; Infant, Premature ; Intestinal Perforation ; diagnostic imaging ; surgery ; Logistic Models ; Male ; Pneumoperitoneum ; diagnosis ; diagnostic imaging ; Portal Vein ; diagnostic imaging ; pathology ; Predictive Value of Tests ; Prognosis ; Radiography, Abdominal ; Retrospective Studies ; Severity of Illness Index ; Ultrasonography, Doppler, Color