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International Journal of Surgery Case... Jun 2024Pierre Robin Sequence (PRS) is a rare and complex condition that often necessitates the collaboration of a full medical team from various disciplines to save the lives...
INTRODUCTION AND IMPORTANCE
Pierre Robin Sequence (PRS) is a rare and complex condition that often necessitates the collaboration of a full medical team from various disciplines to save the lives of babies with this genetic mutation, characterized by three clinical manifestations: glossoptosis, micrognathia, and cleft palate. Treatment primarily involves freeing upper airway obstructions and enhancing nutrition to allow the babies to lead a normal life. The lip-tongue adhesion procedure has been identified in medical literature as the recommended approach to addressing the issues associated with Pierre Robin sequence, and this method was successfully adopted in this case.
CASE PRESENTATION
2.5 kg, a newborn male baby with an abnormal position of the tongue and the inability to breastfeed and feed normally, without any medical, family, or social history. Following an examination, it was discovered that the baby had a posterior position of the tongue, micrognathia, and a cleft palate, leading to a diagnosis of Pierre Robin Sequence (Figs. 1, 2). Preparations for the baby's surgery have commenced. The baby was solely fed intravenously and provided with an oxygen mask for 25 days until all necessary consultations were completed and the baby's readiness for surgery and general anesthesia was confirmed. The surgical plan involved attaching the tongue to the lower lip to enhance the tongue's muscular strength, addressing the posterior position issue, and delaying the palate repair until the age of 1.5 years.
CLINICAL DISCUSSION
PRS is a clinical entity characterized by the triad of mandibular hypoplasia (small jaw), glossoptosis (hypotonic, retracted tongue) and respiratory obstruction that require a multidisciplinary team for initial evaluation and management and maintenance care. TLA is a simple and effective procedure for increasing the cross-sectional area of oropharyngeal port.
CONCLUSION
Handling airway obstruction in Pierre Robin Sequence involves various factors, and there is no universal treatment that can address all cases. Appropriate airway management strategies and feeding programs are essential for each individual with PRS. Our review highlights that TLA is a straightforward surgical procedure with minimal or no short-term complications. TLA should be considered as the primary surgical intervention when relief is needed.
PubMed: 38936141
DOI: 10.1016/j.ijscr.2024.109932 -
Journal of Anaesthesiology, Clinical... 2023
PubMed: 38025574
DOI: 10.4103/joacp.joacp_435_21 -
Clinical Case Reports Jul 2023Femoral hypoplasia-unusual facies syndrome is a rare condition of unknown etiology. The phenotype consists of significant femoral hypoplasia with characteristic facial...
KEY CLINICAL MESSAGE
Femoral hypoplasia-unusual facies syndrome is a rare condition of unknown etiology. The phenotype consists of significant femoral hypoplasia with characteristic facial malformations that often overlap with findings seen in patients with Pierre Robin sequence. Anesthesia providers must prepare for difficult intravenous access, difficult airway management, and uncertainties with regional anesthesia.
ABSTRACT
Femoral hypoplasia-unusual facies syndrome (FHUFS) or femoral facial syndrome is a rare and sporadic condition of unknown etiology. The phenotype consists of significant femoral hypoplasia with characteristic facial malformations that often overlap with findings seen in patients with Pierre Robin sequence. FHUFS is known to cause challenges with anesthesia, including difficulty with endotracheal intubation. Anesthesia providers must be aware of the possible coexistence of FHUFS and Pierre Robin sequence. They need to prepare for difficult intravenous access, difficult airway management, and uncertainties with regional anesthesia.
PubMed: 37415588
DOI: 10.1002/ccr3.7646 -
The Annals of Otology, Rhinology, and... Jul 2024to investigate the ability of mandibular distraction osteogenesis (MDO) to avoid gastrostomy tube (G-tube). (Review)
Review
Pre-Operative Characteristics Helping to Avoid Gastrostomy Tube After Mandibular Distraction in Neonates With Pierre-Robin Sequence: A Institutional Case-Series and Review of the Literature.
OBJECTIVE
to investigate the ability of mandibular distraction osteogenesis (MDO) to avoid gastrostomy tube (G-tube).
DATA SOURCES
PubMed, EBSCOhost, Cochrane, and Embase.
REVIEW METHODS
We retrospectively reviewed the number of MDO cases performed at our institution for patients with Robin Sequence (RS) over the past 10 years. In our institutional review, patients were excluded if they had a G-tube already placed at the time of surgery. We also performed a systematic review of the literature. Articles were excluded if they did not detail feeding outcomes after MDO, or if MDO was performed on patients that did not have RS.
RESULTS
In our systematic review, 12 articles were included that comprised a total of 209 neonates with RS that underwent MDO. A total of 174 (83.3%) patients avoided a G-tube once MDO was performed. A total of 14 patients met the inclusion criteria at our institution. Of the 14 RS patients, 9 (64%) avoided having a G-tube placed and all (14/14) avoided tracheostomy. The average birth weight of patients avoiding a G-tube was 3.11 kg compared to 2.25 kg ( = .045) in the group requiring a G-tube. In the group avoiding a G-tube, the average weight at time of operation was 3.46 kg compared to 2.83 kg ( = .037) in the group requiring a G-tube.
CONCLUSION
MDO may be considered as a surgical option to prevent G-tube placement for neonates with non-syndromic RS who have difficulty with PO feeding but whose airway obstruction is not severe enough to require respiratory support. Based on our institutional experience, a minimum weight of 3.00 kg correlated with higher success rates of PO intake and avoiding a G-tube.
Topics: Humans; Pierre Robin Syndrome; Infant, Newborn; Gastrostomy; Osteogenesis, Distraction; Retrospective Studies; Mandible; Male; Female; Enteral Nutrition; Intubation, Gastrointestinal
PubMed: 38712740
DOI: 10.1177/00034894241249547 -
National Journal of Maxillofacial... 2024Pierre Robin sequence poses a great challenge for anesthesiologists during laryngoscopy and intubation, making oxygenation and ventilation difficult. The role of early...
Pierre Robin sequence poses a great challenge for anesthesiologists during laryngoscopy and intubation, making oxygenation and ventilation difficult. The role of early surgical intervention is recommended for the improvement of the airway and overall survival of the neonate. The situation becomes even more challenging, when the neonate may not be fit for such surgical interventions. The present case posed such a challenge to the team. To the authors' knowledge, the decision to use a face mask as an interim life-saving measure was considered for the first time. This provided a greater window of opportunity for further course of action, only to be later managed by distraction osteogenesis of the mandible. The unconventional use of orthopedic appliances for the management of threatened airways may provide the clinician with time, where further management may be carried out. The present article will explain such a procedure that was carried out as a life-saving measure.
PubMed: 38690248
DOI: 10.4103/njms.njms_99_23 -
Critical Care (London, England) Apr 2024Patients infected with the severe acute respiratory syndrome coronavirus 2 (SARS-COV 2) and requiring mechanical ventilation suffer from a high incidence of ventilator...
Ventilator-associated pneumonia related to extended-spectrum beta-lactamase producing Enterobacterales during severe acute respiratory syndrome coronavirus 2 infection: risk factors and prognosis.
BACKGROUND
Patients infected with the severe acute respiratory syndrome coronavirus 2 (SARS-COV 2) and requiring mechanical ventilation suffer from a high incidence of ventilator associated pneumonia (VAP), mainly related to Enterobacterales. Data regarding extended-spectrum beta-lactamase producing Enterobacterales (ESBL-E) VAP are scarce. We aimed to investigate risk factors and outcomes of ESBL-E related VAP among critically ill coronavirus infectious disease-19 (COVID-19) patients who developed Enterobacterales related VAP.
PATIENTS AND METHODS
We performed an ancillary analysis of a multicenter prospective international cohort study (COVID-ICU) that included 4929 COVID-19 critically ill patients. For the present analysis, only patients with complete data regarding resistance status of the first episode of Enterobacterales related VAP (ESBL-E and/or carbapenem-resistant Enterobacterales, CRE) and outcome were included.
RESULTS
We included 591 patients with Enterobacterales related VAP. The main causative species were Enterobacter sp (n = 224), E. coli (n = 111) and K. pneumoniae (n = 104). One hundred and fifteen patients (19%), developed a first ESBL-E related VAP, mostly related to Enterobacter sp (n = 40), K. pneumoniae (n = 36), and E. coli (n = 31). Eight patients (1%) developed CRE related VAP. In a multivariable analysis, African origin (North Africa or Sub-Saharan Africa) (OR 1.7 [1.07-2.71], p = 0.02), time between intubation and VAP (OR 1.06 [1.02-1.09], p = 0.002), PaO/FiO ratio on the day of VAP (OR 0.997 [0.994-0.999], p = 0.04) and trimethoprim-sulfamethoxazole exposure (OR 3.77 [1.15-12.4], p = 0.03) were associated with ESBL-E related VAP. Weaning from mechanical ventilation and mortality did not significantly differ between ESBL-E and non ESBL-E VAP.
CONCLUSION
ESBL-related VAP in COVID-19 critically-ill patients was not infrequent. Several risk factors were identified, among which some are modifiable and deserve further investigation. There was no impact of resistance of the first Enterobacterales related episode of VAP on outcome.
Topics: Humans; Pneumonia, Ventilator-Associated; Escherichia coli; Cohort Studies; Prospective Studies; Critical Illness; beta-Lactamases; COVID-19; Intensive Care Units; Risk Factors; Klebsiella pneumoniae; Prognosis
PubMed: 38641851
DOI: 10.1186/s13054-024-04906-2 -
Yonago Acta Medica Nov 2023Cleft lip and/or palate (CL/P) can be accompanied by other congenital anomalies. We conducted a long-term evaluation of the associations between cleft patterns, sex...
BACKGROUND
Cleft lip and/or palate (CL/P) can be accompanied by other congenital anomalies. We conducted a long-term evaluation of the associations between cleft patterns, sex distribution, and accompanying congenital anomalies of patients with CL/P.
METHODS
The medical records of 739 patients with CL/P, seen between January 1967 and December 2020, were retrospectively reviewed. Fisher's exact test was used for statistical analysis.
RESULTS
Among the 739 patients with CL/P, the male-to-female ratio was 1.1. Regarding the cleft pattern, 121 (16.4%), 104 (14.1%), 280 (37.9%), 198 (26.8%), and 36 (4.9%) patients had cleft lip (CL), cleft lip and alveolus (CLA), cleft lip and palate (CLP), cleft palate (CP), and submucous cleft palate (SMCP), respectively. Congenital anomalies were identified in 107 (14.5%) cases, of which 53 (49.5%) had congenital heart disease. The frequencies of congenital anomalies patients with in CL/P were 14/225 (6.2%), 36/280 (12.9%), 43/198 (21.7%), and 14/36 (38.9%) for a combination of CL and CLA, CLP, CP, and SMCP, respectively. Accompanying syndromes and chromosomal anomalies were identified in 40 (5.4%) cases, in which Pierre Robin sequence (16 cases of CP and 4 cases of SMCP) was the most frequent.
CONCLUSION
No sex differences were observed in CL/P, and CLP and CP were the most common cleft patterns. Congenital anomalies associated with CL/P were dominated by congenital heart disease and were most frequently identified in CP and SMCP cases. Notably, the Pierre Robin sequence, a complex syndrome characterized by micrognathia, glossoptosis, respiratory obstruction, and a U- or V-shaped CP, was found in cases of both CP and SMCP, and accounted for the symptoms in most cases.
PubMed: 38028265
DOI: 10.33160/yam.2023.11.009 -
Clinical Oral Investigations Apr 2024There is a paucity of information about the possible risk factors that could identify patients with Robin sequence (RS) who are more prone to developing obstructive...
OBJECTIVES
There is a paucity of information about the possible risk factors that could identify patients with Robin sequence (RS) who are more prone to developing obstructive airway complications after palate closure. This study aimed to compare the respiratory complication rates in patients with RS and isolated cleft palate (ICP).
MATERIALS AND METHODS
In this retrospective study, we reviewed the medical records of 243 consecutive patients with RS and ICP who were treated at Amsterdam University Medical Centers over the past 25 years. We collected preoperative data on previous treatment, diagnostic findings, surgical technique, weight, and presence of congenital anomalies.
RESULTS
During cleft palate closure, patients with RS were older (11.9 versus 10.1 months; p = 0.001) and had a lower gestational age than those with ICP (37.7 versus 38.5 weeks; p = 0.002). Patients with RS had more respiratory complications (17 versus 5%; p = 0.005), were more often non-electively admitted to the pediatric intensive care unit (PICU) (13 versus 4.1%; p = 0.022), and had a longer hospital stay duration (3.7 versus 2.7 days; p = 0.011) than those with ICP. The identified risk factors for respiratory problems were a history of tongue-lip-adhesion (TLA) (p = 0.007) and a preoperative weight of < 8 kg (p = 0.015). Similar risk factors were identified for PICU admission (p = 0.015 and 0.004, respectively).
CONCLUSIONS
The possible risk factors for these outcomes were a low preoperative weight and history of TLA. Closer postoperative surveillance should be considered for patients with these risk factors.
CLINICAL RELEVANCE
Identifying risk factors for respiratory complications could provide clinicians better insight into their patients and allows them to provide optimal care for their patients.
Topics: Humans; Infant; Cleft Palate; Hospitalization; Pierre Robin Syndrome; Retrospective Studies; Tongue
PubMed: 38602599
DOI: 10.1007/s00784-024-05647-w -
Journal of Orofacial Orthopedics =... Mar 2024To compare the oral health-related quality of life (OHRQoL) in patients with cleft lip and/or palate or Robin sequence versus a healthy control group using the Child...
PURPOSE
To compare the oral health-related quality of life (OHRQoL) in patients with cleft lip and/or palate or Robin sequence versus a healthy control group using the Child Oral Health Impact Profile (COHIP-G19). Factors such as age, gender, and cleft type were considered.
METHODS
Over an 8-month period, the OHRQoL was surveyed by using the COHIP-G19 questionnaire. Included were patients with a craniofacial disorder (n = 61; average age 11.24 years) and a healthy control group (n = 70, average age 12.63 years) for a total of 131 patients (average age 11.99 years) from the Department of Orthodontics University Hospital Tübingen, Germany. These were divided into two age groups (6-11 years; 12-18 years).
RESULTS
Statistically, patients with a craniofacial disorder presented a significantly lower OHRQoL than the control group (p = 0.0055). In the craniofacial disorder group, older patients revealed a significantly (p = 0.005) lower OHRQoL than the younger patients. Female patients showed in nearly all groups a better OHRQoL than male patients, but this difference was not statistically significant (p > 0.05). Males with a craniofacial disorder scored significantly lower than males without (p = 0.016); females showed no differences between the groups. Visibility, location, and severity of the craniofacial malformation did not have a significant influence on the OHRQoL.
CONCLUSION
The occurrence of a craniofacial malformation impacted the OHRQoL especially in older and male affected patients, unrelated to the expression level or localization. An early instruction about oral health, rehabilitation and functional training should be considered in therapy.
Topics: Child; Humans; Male; Female; Aged; Cleft Lip; Quality of Life; Cleft Palate; Pierre Robin Syndrome; Oral Health; Surveys and Questionnaires
PubMed: 35852562
DOI: 10.1007/s00056-022-00414-6 -
The Cleft Palate-craniofacial Journal :... Dec 2023Klippel-Feil syndrome-4 (KFS4), a rare autosomal recessive form of Klippel- Feil syndrome, is characterized by facial dysmorphism, nemaline myopathy, and short stature....
Klippel-Feil syndrome-4 (KFS4), a rare autosomal recessive form of Klippel- Feil syndrome, is characterized by facial dysmorphism, nemaline myopathy, and short stature. Only 10 cases of KFS4 have been previously published in the literature. We report a novel case of a 1- month-old girl with known KFS4 and Robin Sequence (RS). At 2 months old, she underwent bilateral mandibular distraction osteogenesis to correct significant airway obstruction. Despite adequate mandibular advancement, the patient failed extubation twice and eventually required a tracheostomy. Due to the multiple anomalies present in KFS4, mandibular distraction osteogenesis may have a decreased likelihood of surgical success.
PubMed: 38092684
DOI: 10.1177/10556656231220852