Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. We present here a case of newborn male who presented with the complaints of feed regurgitation, choking and cyanosis. There was a distinct facial dysmorphism with arched and bushy eyebrows, long philtrum, thin upper lip, depressed nasal bridge and hirsutism. The patient was diagnosed as having Cornelia de Lange syndrome on the recognition of distinctive facial features in addition to the pre- and postnatal growth retardation, feeding problems and physical malformations including limb defects.     

Anaesthetic implications of Cornelia de Lange syndrome

Cornelia de Lange syndrome is a congenital disease characterized basically by psychomotor retardation associated with a series of malformations (mainly skeletal craniofacial deformities together with gastrointestinal and cardiac malformations). We present the case of a patient who underwent trauma surgery, discuss the anaesthetic problems involved and their relationship to the malformations that constitute this syndrome.     

Gastroesophageal dysfunction in Cornelia de Lange syndrome

Children with Cornelia de Lange (CDL) syndrome present with feeding problems related to swallowing incoordination, poor esophageal motility, and gastroesophageal reflux (GER). These abnormalities of esophageal function result in failure to thrive and life-threatening aspiration pneumonia. Severe GER was documented in four patients with CDL syndrome. Three were managed successfully with an antireflux procedure (Nissen fundoplication) and a concomitant feeding gastrostomy. These observations confirm the high incidence of abnormal esophageal function in patients with CDL syndrome, and suggest that an antireflux procedure and feeding gastrostomy are important considerations in their clinical management.     

Anesthesiologic considerations in Cornelia de Lange syndrome

BACKGROUND: Retrospective study in pediatric patients with Cornelia de Lange syndrome undergoing different surgical operations, in order to critically evaluate the anesthesiologic aspects of this syndrome. METHODS: Between January 1997 and December 1998, 42 patients undergoing diagnostic examinations (esophagogastroscopy, oculistic visit) or surgery (total exodontia, fundoplicatio for esophageal reflux, correction of labiopalatoschisis) have been studied. The anaesthesiologic technique has been similar for all the cases. RESULTS: Any particular difficulty or inconvenience in comparison with patients with the same range of age, or particular intraoperative difficulties have been observed. In only one patient the McCoy laryngoscope was used due to difficult intubation (Cormack and Lehane III). CONCLUSIONS: Short neck, ogive palatum, cleft palate, micrognatia, urogenital and gastroenteric anomalies, esophageal reflux, together with heart defects (15% of cases), can complicate the peri and postoperative period in these patients. A careful preoperative evaluation and a careful perioperative management, may decrease anesthetic complications in Cornelia de Lange syndrome to the same range of normal patients.     

Cosmetic surgery for Cornelia de Lange syndrome

A case of Cornelia de Lange syndrome is presented in which modern plastic surgery was used to reduce excessive facial hair. Hairless forehead skin was enlarged using a tissue expander and earlobes were resurfaced.     

Anesthetic management in a patient with Cornelia de Lange syndrome

An eight-year-old boy with Cornelia de Lange syndrome underwent left inguinal hernioplasty and orchiopexy under general anesthesia. The patient with Cornelia de Lange syndrome had severe primordial growth failure with muscle-skeletal system such as cleft palate, micrognathia, and micromelia of the extremities and mental retardation as well as characteristic faces such as deep supercilia, etc. We suspected difficulty of endotracheal intubation due to this syndrome. Anesthesia was induced with intravenous injection of atropine 0.1 mg and ketamine 10 mg followed by inhalation of nitrous oxide 3 l x min(-1), oxygen 3 l x min(-1), and sevoflurane 5% without any muscle relaxant. Although his neck and temporomandibular joint were stiff, his trachea was intubated orally without difficulty with a 4.5 mm ID tracheal tube using a Macintosh laryngoscope. Anesthesia was maintained uneventfully by bolus intravenous injection of ketamine 5 mg and inhalation of oxygen and sevoflurane 2-3% with mechanical ventilation. The anesthetic management in a patient with Cornelia de Lange syndrome should be carried out with careful preoperative evaluation of physical status, and especially the difficult endotracheal intubation should be kept in mind. Induction of general anesthesia with injection of ketamine followed by inhalation of sevoflurane without muscle relaxant is a safe method in Cornelia de Lange syndrome.     

A case of Cornelia de Lange syndrome with retentio testis

A 6-year-old boy whose chief complaint was retentio testis was referred to our clinic. He had mental retardation, shortness of stature of prenatal onset, retarded growth, microbrachycephaly, bushy eyebrows, long eyelashes, low-set ears and micromelia, and was diagnosed to have Cornelia de Lange syndrome. As in most cases of Cornelia de Lange syndrome the cause of our case was not clear, and chromosome analysis showed a 46,XY constitution. In our case, we performed bilateral orchidopexy for retentio testis because of the problem of fertility and the danger of malignancy. Cornelia de Lange syndrome is rare and the urologic literature dealing with this disease has never been reported in Japan. The clinical features of this disease are discussed in the present report.     

General anesthesia for a patient with Cornelia de Lange syndrome

Cornelia de Lange syndrome involves anomalies in cardio-vascular and musculo-skeletal systems, and mental retardation. In addition, a patient with this syndrome shows a peculiar look. A 22-year-old woman with Cornelia de Lange syndrome underwent general anesthesia twice. She has a small mouth, thin lips, a short neck, short limbs, and stiffness of the neck and some joints associated with slight mental retardation. She was scheduled for arthroscopy and then for rotational acetabular osteotomy and valgus osteotomy. The maximum distance between the upper and lower incisors was 34 mm, when she opened her mouth. Anesthesia was induced with sevoflurane increased slowly to 7.0% in oxygen 6 l.min-1 in both procedures. After the administration of 4% lidocaine 3.5 ml into the pharynx, orotracheal intubation was attempted, but was not successful. Then blind naso-tracheal intubation was performed successfully under spontaneous respiration under sevoflurane-oxygen inhalation. The induction of anesthesia with sevoflurane under spontaneous respiration was useful for blind naso-tracheal intubation in a case with difficult intubation such as in Cornelia de Lange syndrome.     

Anesthetic management of an infant with Cornelia de Lange syndrome

We report anesthetic management of an infant with Cornelia de Lange syndrome. A 12-month-old girl with Cornelia de Lange syndrome was scheduled for ureterocystoneostomy because of vesicoureteral reflux. Preoperative physical examination suggested difficult tracheal intubation. After induction of anesthesia with sevoflurane (5%) in nitrous oxide (70%) and oxygen, a laryngeal mask airway (# 1.5) was inserted. A guide wire was inserted in the trachea through a laryngeal mask airway under direct vision of a fiberoptic bronchoscope. A tube-exchanger stylet was inserted around the guide wire after the laryngeal mask airway and fiberoptic bronchoscope had been removed. An endotracheal tube (ID 4.0 mm) was easily intubated around the tube-exchanger stylet. During the surgery, anesthesia was maintained with sevoflurane (2-3%) in nitrous oxide (50%) and oxygen. There was no perioperative pulmonary complication.     

Spinal anesthesia in a child with Brachmann-de Lange (Cornelia de Lange) syndrome

Providing anesthesia to patients with Brachmann-de Lange syndrome (BdLS) may be challenging, mainly because of intubation difficulty, gastroesophageal reflux disease, and aspiration complications. The use of spinal anesthesia (SA) in this population has not been reported. We report the uneventful administration of awake SA to a 7-month-old girl with BdLS who was scheduled for rectal biopsy. The current literature is reviewed to discuss the indications for SA in those patients.     

Fryns syndrome in children with congenital diaphragmatic hernia

Purpose: Fryns syndrome is characterized by multiple congenital anomalies including Congenital Diaphragmatic Hernia (CDH), and has a reported poor prognosis with a survival rate during the neonatal period of approximately 15%. This report details the management and outcome of patients with Fryns syndrome and CDH. Methods: Records of all liveborn patients with CDH between 1995 and 2001 in 83 hospitals were entered into the CDH database. Those with Fryns syndrome were reviewed retrospectively. Results: A total of 1,833 patients were entered in the database, 23 of these had Fryns (1.3%). All patients experienced early distress requiring intubation. Ten patients (43%) were found to have other major anomalies. Seven patients underwent surgical repair at an average age of 7.5 days (range, 6 hours to 14 days). Mortality rate was 83% compared with 33% of patients with unilateral CDH (P = .01). Ten patients died within the first 24 hours. The parents of 6 patients withdrew support. Of the 4 survivors, 3 have marked developmental delay, whereas the fourth has not yet undergone formal assessment. Conclusions: The prognosis of infants with Fryns syndrome and congenital diaphragmatic hernia remains grim. Early genetic counseling and recognition of lethal anomalies may assist in determining which patients may survive.     

Late-presenting congenital diaphragmatic hernia

Background

Late-presenting congenital diaphragmatic hernia (CDH) is a rare subset of CDH, most of the information derived from small series or case reports. The aim of this study was to document the clinical manifestations of late-presenting CDH using a large multicenter database.

Methods

Information about late-presenting CDH (diagnosed at later than 30 days of age) was identified from the database of the CDH Study Group (3098 cases collected during 1995-2004) and reviewed retrospectively.

Results

Seventy-nine cases (2.6%) from 30 centers met the inclusion criteria. Seven cases had a Morgagni hernia. There were 50 males (65%) and 27 females (35%). The mean age at diagnosis was 372 days (32 days to 15 years). Major associated anomalies (10 cardiac and 7 chromosomal abnormalities) were identified in 12 cases (15%). Presenting symptoms were respiratory in 20 (43%), gastrointestinal in 15 (33%), both in 6 (13%), and none (asymptomatic) in 5 (11%). The hernia was left-sided in 53 (69%), right-sided in 21 (27%), and central or bilateral in 3 (4%). Patients with gastrointestinal symptoms invariably had left-sided hernias (n = 19), whereas patients with respiratory symptoms (n = 24) seemed equally likely to have right- or left-sided lesions. A primary repair without patch was done in all cases with 100% survival.

Conclusions

Presenting symptoms of late-onset CDH can be respiratory or gastrointestinal, but presentation with gastrointestinal problems was more common in left-sided hernias, whereas respiratory symptoms predominated in right-sided lesions. The prognosis is excellent once the correct diagnosis is made.     

Bilateral congenital diaphragmatic hernia

Background/Purpose: CDH occurs in approximately 1 in 2,450 live births. Bilateral CDH, previously identified through a limited number of case reports, is extremely rare. The care of CDH patients is a challenge for neonatologists and surgeons. This report details the management and outcome of patients with bilateral CDH. Methods: Records of all liveborn patients with CDH between 1995 and 2001 in 83 hospitals were entered into the CDH database. Those with bilateral CDH were reviewed retrospectively. Data were analyzed using the [Chi ]² test. Results: A total of 1833 patients were entered in the database, 17 of these had bilateral CDH (0.9%). Eleven were boys. The average birth weight was 2.6 kg. The average gestational age was 36.8 weeks. Sixteen patients experienced early distress requiring intubation (12 immediately), and 4 were placed on extracorporeal membrane oxygenation (ECMO). Seven patients were diagnosed prenatally. Twelve patients (70%) were found to have other anomalies, 3 had chromosomal abnormalities and 7 had cardiac anomalies. These included tetralogy of Fallot (TOF), VSD, absence of the pericardium, coarctation of the aorta (2), accessory SVC with aortic coarctation, and ASD with TOF. Only 9 of 17 (53%) patients underwent surgical repair (6 primary, 3 patch). Mortality rate was 65% compared with 33% of patients with unilateral CDH (P = 0.01). Seven patients died within 48 hours of birth. There was no significant difference in survival based on gender, weight, gestational age, presence of anomalies, or prenatal diagnosis. Conclusions: The management of infants with bilateral congenital diaphragmatic hernia remains a difficult problem with a significant mortality. Bilateral congenital diaphragmatic hernia is associated more frequently with other major anomalies than unilateral congenital diaphragmatic hernia and should prompt an evaluation for further anomalies. J Pediatr Surg 38:522-524.