Early adolescent primary ciliary dyskinesia associated with broncholithiasis

Primary ciliary dyskinesia (PCD), is a rare congenital disease group, and contained Kartageners syndrome. This syndrome is characterized with situs viscerum inversus, sinusitis and bronchiectasis. In some elderly patients, broncholithiasis may be associated with PCD. The coexistence of early adolescence PCD and broncolithiasis has not been reported yet. We report here a case of a 14-year-old early adolescent male who had typically presented as PCD-based Kartageners syndrome and developed broncholithiasis which diagnosed with computed tomography.     

Boerhaave's syndrome as the primary manifestation of adult eosinophilic esophagitis. Two case reports and a review of the literature

Eosinophilic esophagitis (EoE) has been associated with an increased risk of esophageal mucosal tears induced by vomiting to dislodge impacted food or following endoscopic procedures. However, Boerhaave's syndrome or transmural perforation of the organ resulting from vomiting induced to dislodge impacted food has rarely been reported. In this article, we present two male adult patients with long‐term esophageal symptoms who suffered from Boerhaave's syndrome after the impaction of food in the esophagus. Both patients required surgical management because of clinical and radiological signs of perforation. This rare complication of EoE has been documented in 11 other reports, predominantly affecting young men in whom EoE had not been previously diagnosed, despite the majority having esophageal symptoms and a history of atopy. There are only two published cases of esophageal perforation that presented in children, which were managed conservatively. Our two patients and 4 out of the 11 described in literature required surgery because of esophageal perforation. Our two cases involved closure of the perforation, while in three published reports, perforation resulted in a partial or complete esophagectomy. No cases have been published on Boerhaave's syndrome caused by EoE that ended in fatalities. It is important to note that esophageal perforation caused by vomiting is a potentially severe complication of EoE that is being increasingly described in literature. Therefore, patients with non‐traumatic Boerhaave's syndrome should be assessed for EoE, especially if they are young men who have a prior history of dysphagia and allergic manifestations.     

Supraglottic foreign body in a woman with Down's syndrome and congenital heart disease: A case report

Rationale:An impacted foreign body (FB) in the larynx of an adult is a rare but potentially life-threatening occurrence. Patients with Down''s syndrome (DS) are vulnerable to airway FB. However, the anesthesia for FB removal can be challenging. This report describes a case in which a FB was impacted between the vestibular folds in an adult with DS, congenital heart disease, and a difficult airway.Patient concerns:A 41-year-old woman swallowed a piece of sharp-tipped wooden skewer presented with a sudden onset of aphonia, dysphagia, and an acute sore throat without respiratory difficulty. The patient had DS, congenital heart disease, pulmonary arterial hypertension, and severe obstructive sleep apnea–hypopnea syndrome. The airway evaluation indicated that ventilation and intubation would be difficult due to retrognathia, macroglossia, adenotonsillar hypertrophy, and Mallampati''s classification III.Diagnosis:The clinical symptoms and laboratory examination confirmed FB penetrated between the vestibular folds.Interventions:After careful multidisciplinary preoperative assessment and preparation, the FB was removed successfully by direct laryngoscopy under moderate sedation and spontaneous ventilation, with the application of 1% lidocaine as topical anesthesia.Outcomes:The laryngeal FB was removed successfully without any complications. And the patient was discharged home the next day.Lessons:This case report shows the importance of anesthetic depth for laryngeal FB removal. The use of moderate sedation (allowing spontaneous ventilation) and adequate analgesia combined with local anesthesia enabled the patient to withstand the stress of direct laryngoscopy. Appropriate assessment, careful preparation, and multidisciplinary collaboration yielded the smooth removal of a laryngeal FB in an adult with DS.     

Genetics of congenital heart defects in DiGeorge syndrome

Background Di George syndrome（DGS） is the most common microdeletion syndrome in humans and a disorder caused by a defect in chromosome 22. Almost 80% of DGS patients manifest congenital heart defects（CHD）, which are highly variable and severe. However, the genetics of CHD in DGS remain elusive. This review concludes that the TBX1 gene plays a critical role in cardiovascular defects, involving many additional genes, such as Six1, Eya1, Fgf8, Fox, and Shh. Concerning the variable manifestations of CHD in DGS,additional modifiers have been shown of involvement, such as Wnt, MOZ, micro RNAs, VEGF, and CRK.Knowledge of the genetics underlying CHD in DGS has the potential to early detection and treatment of this disease.     

Transcatheter patch occlusion of experimental atrial septal defects.

The effectiveness and safety of transcatheter patch atrial septal defect (ASD) occlusion were studied in 20 piglets. Experimental atrial septal defects were created by foramen ovale dilation. ASDs were corrected by polyurethane patches of two types (flat and sleeve). Specially made balloon catheters supported the patches for periods varying from 1 to 6 days; after this period, the supporting catheters were withdrawn and the patches were released. All transcatheter patches were safely embedded in the atrial septum 48 hr or more after implantation. All defects were fully occluded. One patch became infected. The transcatheter patch experimental ASD occlusion method was found effective and safe, potentially applicable in the occlusion of human ASDs.     

Dextrocardia and corrected transposition of the great arteries (I,D, D) in a case of kartagener's syndrome: A unique association

Kartagener's syndrome (KS) usually includes mirror-image dextrocardia. The incidence of congenital heart disease in KS is comparable with that in the general population. This paper reports on a case of Kartagener's syndrome associated with dextrocardia, corrected transposition of the great arteries (I, D, D), ventricular septal defect, and valvar pulmonary stenosis in an 8-year-old girl.     

Aortopulmonary window in adults: A rare entity leading to Eisenmenger syndrome

An aortopulmonary window (APW) is a rare congenital heart defect involving an abnormal communication between the ascending aorta and the pulmonary trunk with separate aortic and pulmonary valves. This defect accounts for 0.2% of all congenital cardiac anomalies and if left untreated can lead to Eisenmenger syndrome, severe pulmonary hypertension, heart failure, and poor survival. The authors herein present a case of APW type III with Eisenmenger syndrome in an adult patient whose initial complaint was cyanosis, and provide a thorough review of the literature of cases of APW with Eisenmenger syndrome that have survived into adulthood.     

Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma: Case of multiple neurocristopathies

We report on a male infant with the rare combined occurrence of congenital central hypoventilation syndrome (CCHS or Ondine's curse), Hirschsprung's disease (HD), and neuroblastoma. Current therapeutical options leave no doubt that children with isolated forms of CCHS, HD, or neuroblastoma must be treated, but management decisions and the ethical dilemma become more difficult with the presence of multiple neurocristopathies. Our patient was dependent on mechanical ventilation and total parenteral nutrition, when a neuroblastoma was diagnosed at age 5 months. We initiated an attempt at curative chemotherapy. The tumor failed to respond to recommended chemotherapeutic regimens, and the patient died at 11 months of age. We emphasize the importance of screening CCHS patients for associated illnesses such as neuroblastoma and ganglioneuroblastoma at time of diagnosis. Pediatr Pulmonol. 2002; 33:71–76. © 2002 Wiley‐Liss, Inc.     

Early lung disease in young children with primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is an autosomal recessive disease in which ciliary dysfunction leads to chronic lung, sinus, and middle ear disease. PCD is often not diagnosed until late childhood due to its presumed rarity and the technical expertise necessary for diagnosis; as such, little is known about lung disease in young children with PCD. We report on 3 young children with PCD who had evidence of lung disease on infant pulmonary function testing, bronchoscopy, and/or computed tomography (CT) of the chest before 3 years of age.     

Clinical efficiency and safety analysis of transcatheter interventional therapy for compound congenital cardiovascular abnormalities

OBJECTIVE: To investigate the efficiency and safety of transcatheter interventional therapy for compound congenital cardiovascular abnormalities. METHODS: From Nov 2001 to Jun 2006, a total of 36 patients (17 male, 19 female), aged 17.20 +/- 10.52, with compound congenital cardiovascular abnormalities underwent transcatheter interventional procedure. These patients included 11 with perimembranous ventricular septal defect (PVSD) and patent ductus arteriosus (PDA), 8 patients with PVSD and atrial septal defect (ASD), 8 patients with ASD and PDA, 7 patients with ASD and pulmonary stenosis (PS), 1 patient with ASD and mitral stenosis(MS), 1 patient with coarctation of aorta (COA) and PDA. According to the principle of "easy first, hard second," balloon valvuloplasties of PS or MS were performed before the closure of PVSD, and of PDA and ASD. Electrocardiogram and transthoracic echocardiogram were examined at 4 days, 1, 2, 6 and 12 months, respectively, after each procedure. RESULTS: Transcatheter interventional therapy for compound congenital cardiovascular abnormalities was successful in all patients. Among these, 2 occluders were planted in each of 27 patients, 7 patients with ASD combined with PS and 1 patient with ASD combined with MS underwent successfully performed balloon valvuloplasty and ASD closure, 1 patient with COA combined with PDA underwent successfully performed balloon valvuloplasty and subsequent covered stent implantation. No patient encountered serious adverse events during the (30.5 +/- 14.6) months of follow-up. CONCLUSIONS: Transcatheter interventional therapy for compound congenital cardiovascular abnormalities could obtain satisfactory results with technical feasibility.     

Primary esophageal repair in Boerhaave's syndrome

SUMMARY. Boerhaave's syndrome is the most severe disease in the esophageal perforation. The purpose of this report is to evaluate the outcome in patients who were treated with primary repair for Boerhaave's syndrome regardless of the time interval. From 1997 to July 2007, 10 patients with Boerhaave's syndrome were treated with primary repair regardless of the time interval. The interval between rupture and initial treatment was less than 24 hours in five patients (50.0%) and more than 24 hours in the other five patients (50.0%). There was no operative mortality and five postoperative leaks. Of these five patients with postoperative leaks, one received primary repair for less than 24 hours (20%) and four received operation for more than 24 hours (80%). However, postoperative leaks were managed by non‐operative methods and resolved within 2 weeks. The time interval between perforation and operative intervention should not prejudice the surgeon against primary repair of Boerhaave's syndrome. Although a high incidence of postoperative leak occurred in patients who were operated on for more than 24 hours, its management is not hard to perform and its prognosis was not poor.     

Cardiac Catheterization and Selective Angiography in Infants with a New Flow-Directed Catheter

Preliminary experience with a new flow-directed pediatric anglography catheter in 35 infants indicates that catheterization of all cardiac chambers and both great vessels can be accomplished without risk of perforation or major arrhythmia. Antegrade access to the aorta from the left ventricle via the foramen ovale reduced the need for retrograde arterial catheterization. The maneuverability of this balloon-tipped catheter coupled with the ability to perform safely selective anglography at any site entered establishes a unique advantage over standard cardiac catheters now in use. The success with this catheter in performing right and left heart studies and the safety in its use promise to significantly reduce the risk of mechanical and angiographic accidents during the intracardiac investigation of critically ill Infants with congenital heart disease.     

An isotopic study of nasal mucociliary transport in newborns: Preliminary investigation

The diagnosis of primary ciliary dyskinesia (PCD) depends on electron microscopic examination of cilia obtained from mucosal biopsies of the nasal turbinates or the trachea. This is an invasive, time-consuming, and expensive technique. The low incidence of this abnormality, the large number of infants and children with suggestive symptoms, and the lack of a reliable screening test make the decision to proceed with diagnostic biopsy a common problem in recurrent or chronic respiratory pediatric conditions. To improve this situation early in infancy, nasal mucociliary transport was evaluated in 10 normal newborns using the Tc-99m-labeled seroalbumin technique, and the results obtained were compared with those corresponding to a newborn with Kartagener's syndrome. Transport velocity in normal newborns was similar to that observed in older children and in adults, in contrast to the tracer immobility seen in the affected newborn. This technique is simple, safe, objective, and well tolerated in this age group and might be used as an early screening test to ruling out PCD. Pediatr Pulmonol. 1993; 16:167–169. © 1993 Wiley-Liss, Inc.     

Hand‐held echocardiography in children with hypoplastic left heart syndrome

Background: When performed by cardiologists, hand‐held echocardiography (HHE) can assess ventricular systolic function and valve disease in adults, but its accuracy and utility in congenital heart disease is unknown. In hypoplastic left heart syndrome (HLHS), the echocardiographic detection of depressed right ventricular (RV) systolic function and higher grade tricuspid regurgitation (TR) can identify patients who are at increased risk of morbidity and mortality and who may benefit from additional imaging or medical therapies.
Methods: Children with HLHS after Stage I or II surgical palliation (Norwood or Glenn procedures) were prospectively enrolled. Subjects underwent HHE by a pediatric cardiologist on the same day as standard echocardiography (SE). Using 4‐point scales, bedside HHE assessment of RV systolic function and TR were compared with blinded assessment of offline SE images. Concordance correlation coefficient (CCC) was used to evaluate agreement.
Results: Thirty‐two HHEs were performed on 15 subjects (Stage I: n = 17 and Stage II: n = 15). Median subject age was 3.4 months (14 days‐4.2 years). Median weight was 5.9 kg (2.6‐15.4 kg). Bedside HHE assessment of RV systolic function and TR severity had substantial agreement with SE (CCC = 0.80, CCC = 0.74, respectively; P < .001). HHE sensitivity and specificity for any grade of depressed RV systolic function were 100% and 92%, respectively, and were 94% and 88% for moderate or greater TR, respectively. Average HHE scan time was 238 seconds.
Conclusions: HHE offers a rapid, bedside tool for pediatric cardiologists to detect RV systolic dysfunction and hemodynamically significant TR in HLHS.     

Anomalous right coronary artery in a patient with Kartagener's syndrome

We report a case of an anomalous right coronary artery arising from the morphological left sinus of Valsalva in a patient with Kartagener's syndrome. Literature review has revealed only a small number of cases of anomalous coronary arteries in patients with dextrocardia and none previously reported in Kartagener's syndrome. © 1996 Wiley-Liss, Inc.