Unpredictable drug reaction in a child with Cornelia de Lange syndrome

Stević, Marija; Milojević, Irina; Bokun, Zlatko; Simić, Dušica

doi:10.1007/s11096-014-0050-7

Cited by 10 publications

(15 citation statements)

References 8 publications

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“…In the case reports, craniofacial anomalies (23 cases) were the most prevalent manifestations and were similar to those reported in the case series …”

Section: Resultsmentioning

confidence: 99%

“…In addition, death due to aspiration and/or apnea has been reported in six children, again highlighting the importance of early identification of airway abnormalities in these patients. Few reports also noted that these patients had a grade 3 or 4 exposure, making intubation difficult and resulting in the use of a nasal fiber optic fiber, glide scope, or cricoid pressure to intubate these patients . Several factors may explain a harder exposure, including the presence of a cleft palate, restricted mouth opening, dental anomalies, and micrognathia—all of which are present more than 50% of the time for these children.…”

Section: Discussionmentioning

confidence: 99%

“…16,29,33 Seven of the 34 case reports (Table III) mentioned hearing anomalies, with no new findings when compared to the case series. [34][35][36][37][38][39][40] Findings included CHL for two patients 35,39 and unspecified hearing loss for the remaining five cases. 33,34,[36][37][38]…”

Section: Otologic Manifestationsmentioning

confidence: 99%

“…19,40 When reviewing case reports (Table III), five of the 34 cases mentioned infectious anomalies similar to those reported in the case series: recurrent pneumonia (2) and recurrent upper respiratory infections (2). 38,39,44,45 One patient was hospitalized for 5 months due to recurrent sepsis without mention of the etiology. 46…”

Section: Infectious Manifestationsmentioning

confidence: 99%

“…2,4,7,11,[22][23][24][25][26][27] In the case reports, craniofacial anomalies (23 cases) were the most prevalent manifestations and were similar to those reported in the case series. 24,[35][36][37][38][39][43][44][45][55][56][57]60,61,63,[65][66][67][68][69][70][73][74][75][76] Findings included synorphys (n = 15); long, thick eyelashes (n = 12); anteverted nares (n = 12); crescentshaped lip (n = 13); and a long philtrum (n = 11). One new finding reported was the presence of an antimongoloid slant in two patients.…”

Section: Craniofacial Manifestationsmentioning

confidence: 99%

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Cornelia de lange manifestations in otolaryngology: A systematic review and meta‐analysis

2019

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Objectives Cornelia de Lange syndrome (CdLS) is a rare genetic disorder. Our goal was to systematically review the literature regarding otolaryngology manifestations of CdLS. Methods We systematically reviewed the PubMed, Embase, CINAHL, Scopus, and Google Scholar databases for original articles of otolaryngology manifestations for patients with CdLS. These articles were analyzed, and pooled prevalence was calculated. Results We analyzed 1,310 patients included in 35 case series and 34 case reports. Hearing loss was present for many patients (27 studies), with sensorineural hearing loss affecting 40.3% (95% confidence interval [CI]: 17.3–63.4) and conductive affecting 22.7% (95% CI: 5.7–39.7). Recurrent acute otitis media was the most frequent infectious manifestation, with 56.5% (95% CI: 34.1–78.4) in seven studies, followed by recurrent airway infections with 44.1% (95% CI: 11.0–87.1) in five studies. Forty‐nine (49.7%) percent of patients (95% CI: 25.9–73.6) in nine studies had dysphagia, and 76.6% (95% CI: 59.8–93.3) in four studies had some degree of dysphonia. Craniofacial anomalies were reported in 30 studies, with micrognathia (53.1%; 95% CI: 34.1–72.1) and high arched palate (70.6%; 95% CI: 56.5–84.8) commonly reported. Additional physical exam abnormalities reported included those involving: lips (76.8%; 95% CI: 65.3–88.4), dentition (65.1%; 95% CI: 27.2–100), mouth (85.5%; 95% CI: 76.2–93.8), and eyelashes (87.1%; 95% CI: 77.2–96.9). Sleep‐disordered breathing or obstructive sleep apnea affected 25.8% (95% CI: 11.4–40.2) of patients (7 studies). Airway anomalies were reported in 11 case reports. Conclusion This is the first comprehensive evaluation of otolaryngologic manifestations in the CdLS literature. Most reported hearing loss and craniofacial anomalies. Sleep disorders occurred in a minority of patients, whereas airway disorders were primarily reported in case reports. These conditions should be further examined given their potential life‐threatening implications. Level of Evidence 3a Laryngoscope, 130:E122–E133, 2020

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“…In the case reports, craniofacial anomalies (23 cases) were the most prevalent manifestations and were similar to those reported in the case series …”

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Otologic Manifestationsmentioning

confidence: 99%

Section: Infectious Manifestationsmentioning

confidence: 99%

Section: Craniofacial Manifestationsmentioning

confidence: 99%

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Cornelia de lange manifestations in otolaryngology: A systematic review and meta‐analysis

2019

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Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series

Moretto¹,

Scaravilli

Ciceri

et al. 2016

American J of Med Genetics Pt C

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Cornelia De Lange syndrome (CdLS) is a rare congenital disease characterized by typical facial dysmorphism, developmental disability, and limb deficiency defects. Various congenital malformations and medical complications have been described with gastroesophageal reflux as the major one. CdLS patients often require multiple high-risk anesthetic procedures. At San Gerardo Hospital (Monza, Italy) the management of CdLS patients is routinely organized through a standard protocol and a dedicated pediatric anesthesia team has been implemented. We report on a retrospective descriptive analysis of the anesthetic records of the CdLS patients admitted to San Gerardo Hospital from January 2010 to December 2015. We retrieved: demographics, genetic profiles, type of procedures, anesthetic approaches, anesthetics usage and complications. Data are reported as median (interquartile range) values. Twenty-seven patients (11 female), with age 12 (7-15) years old, weight 24 (14-35) kg, and severity score of 25 (18-32) were included. NIBPL mutations were the most frequently represented. We analyzed 58 procedures (30 esophagogastroduodenoscopies, 8 evoked auditory potential tests, 5 radiodiagnostics, 5 catheters positioning, 4 bronchoscopies) managed by sedation (36) and general anesthesia (6). Each patient underwent one (1-2) anesthetic procedure. Propofol (59%), sevoflurane (31%), fentanyl (24%), and ketamine (10%) were used. Three out of six endotracheal intubations were difficult. The only documented intraoperative complications were three episodes of desaturation (oxygen saturation <90%) occurring during sedations and were managed without the need for an invasive control of the airways. Implementation of a specific management protocol and a dedicated allowed to provide anesthesia to CdLS patients without the occurrence of major complications. © 2016 Wiley Periodicals, Inc.

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Midazolam

2015

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Unpredictable drug reaction in a child with Cornelia de Lange syndrome

Abstract: In our opinion midazolam should be avoided in patients with Cornelia de Lange Syndrome, which we enforced after first unpredictable reaction.

Cited by 10 publications

References 8 publications

Cornelia de lange manifestations in otolaryngology: A systematic review and meta‐analysis

Cornelia de lange manifestations in otolaryngology: A systematic review and meta‐analysis

Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series

Midazolam

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