Treacher collin’s syndrome

Marfooa1*, Poornima B2, Dhariniya S3, Ruby Ravichandran4

1Staff Nurse, Pediatric General Ward, Maa Kauvery Hospital, Trichy, Tamil Nadu

2Incharge, Pediatric General Ward, Maa Kauvery Hospital, Trichy, Tamil Nadu

3Nursing Educator, Maa Kauvery Hospital, Trichy, Tamil Nadu

4Senior Deputy Nursing Superintendent, Maa Kauvery Hospital, Trichy, Tamil Nadu

*Correspondence

Abstract

This case report describes a child with Treacher Collin’s syndrome who presented with chronic aspiration under evaluation, severe gastroesophageal reflux disease (GERD grade 5), and persistent chronic regurgitation. The child experienced recurrent feeding difficulties and respiratory symptoms associated with repeated aspiration events. Clinical evaluation included assessment of swallowing function, nutritional status, and respiratory complications. Management focused on aspiration prevention, reflux control, nutritional support, and multidisciplinary care involving pediatric, gastroenterologist and pulmonologist. Early recognition and comprehensive management are important to reduce respiratory complications, improve feeding safety, and enhance quality of life in children with complex craniofacial and gastrointestinal conditions.

Keywords: Treacher Collin’s Syndrome; Chronic aspiration and Gastroesophageal reflux disease.

Introduction

Treacher Collins syndrome is a rare genetic disorder that affects the development of the facial bones and tissues before birth, especially his jaw, cheekbones, ears, and eyes. Gastroesophageal reflux disease is a condition in which stomach acid or stomach contents repeatedly flow back into the esophagus, causing symptoms such as vomiting, regurgitation, heartburn, or feeding difficulties. Chronic aspiration is a condition where food, liquids, saliva, or stomach contents repeatedly enter the airway and lungs over along period, which may lead to coughing, breathing problems, and recurrent lung infections.

Case Presentation

A 3-month-old female child was admitted with complaints of recurrent cough and regurgitation of feeds through the nose since birth, which had increased in frequency recently. The child was on nasogastric Tube feeding at home due to persistent feeding difficulties and recurrent aspiration episodes. The child was a known case of Treacher Collins syndrome with bilateral microtia and Grade 5 gastroesophageal reflux disease. There was no significant past surgical history. The patient also had severe-to-profound hearing loss with associated small muscular atrial septal defect andVentricular septal defect. Since birth, the child had recurrent feeding intolerance and aspiration-related respiratory symptoms, requiring repeated medical evaluation and supportive management. There was no history of fever, loose stools, cyanosis, or severe respiratory distress at the time of presentation. The child was admitted for further evaluation of chronic aspiration and worsening regurgitation symptoms.

Clinical findings

On clinical examination, the child was alert and afebrile with stable vital signs. The patient presented with recurrent cough and regurgitation of feeds through the nose since birth, which had increased recently. Feeding difficulties and recurrent aspiration symptoms were noted. The child was on nasogastric tube feeding at home.

Head-to-toe examination revealed bilateral microtia and flat nasal bridge. Respiratory system examination showed bilateral air entry with occasional crepitation’s and gurgling sounds. Cardiovascular examination revealed normal heart sounds without significant murmur. Abdominal examination was unremarkable with normal bowel sounds. Neurological examination showed normal tone and reflexes for age. The child maintained adequate oxygen saturation in room air without severe respiratory distress at the time of admission.

Investigations and results

Laboratory investigations revealed hemoglobin of 11.3g/dl, total white blood cell count of 11,210 cells/cu.mm, and platelet count of 5.37 lakhs/cu.mm. Differential count showed lymphocyte predominance. Renal function tests and serum electrolytes were within normal limits. C-reactive protein was mildly elevated.

Upper gastrointestinal endoscopy revealed normal esophageal, gastric, and duodenal mucosa. Ryle’s tube placement at second part of duodenum was done successfully under direct vision. Bronchoscopy findings revealed mild-to-moderate mid segment tracheomalacia with probable extrinsic compression. Bilateral bronchial tree appeared normal, and broncho alveolar lavage samples were collected for cytological analysis.

Echocardiography showed a tiny patent foramen ovale with left-to-right shunt and good biventricular function. No significant structural cardiac abnormalities, pulmonary hypertension, or pericardial effusion were noted. The overall investigation findings supported the diagnosis of chronic aspiration associated with severe gastroesophageal reflux disease and airway abnormality in a child with Treacher Collins syndrome.

Ugiscopy

Bronchoscopy

Diagnosis

Based on the clinical presentation, recurrent cough during feeding, regurgitation of feeds, and bronchoscopy findings, the diagnosis of chronic aspiration secondary to severe gastroesophageal reflux disease was established. Associated congenital anomalies including bilateral microtia, probable Treacher Collins syndrome, severe-to-profound hearing loss, small muscular ventricular septal defect, and atrial septal defect further supported the clinical diagnosis. Bronchoscopy findings suggestive of mid-segment tracheomalacia with probable extrinsic compression also contributed to the aspiration symptoms and feeding difficulties.

Management

The child was admitted for further evaluation and management of chronic aspiration and severe gastroesophageal reflux. Initial management included close monitoring of respiratory status, maintenance of nasogastric feeding, intravenous antibiotics, anti-reflux medications, prokinetic agents, and supportive care. Upper gastrointestinal endoscopy and bronchoscopy-guided naso duodenal tube placement were performed under total intravenous anesthesia.

Bronchoscopy revealed mid-segment tracheomalacia with probable extrinsic compression, while upper gastrointestinal endoscopy showed no significant abnormality .Bronchoalveolar lavage samples were collected for further revaluation. Feeding was initiated through the nasoduodenal tube to minimize aspiration risk. The child received medications including Piperacillin-Tazobactam, Domperidone, Erythromycin, Ranitidine, Amoxicillin-Clavulanic acid, and nebulization with hypertonic saline.Continuous monitoring of oxygen saturation, feeding tolerance, hydration status, and respiratory function was maintained throughout the hospital stay.

Outcome

The patient showed gradual clinical improvement during hospitalization. Respiratory symptoms including cough and regurgitation episodes reduced significantly following initiation of nasoduodenal feeding and medical management. The child tolerated feeds adequately and maintained stable oxygen saturation without respiratory distress. No further aspiration-related events were observed during the hospital stay. The patient remained hemodynamically stable, active, and afebrile, indicating satisfactory response to treatment and supportive care.

Discharge

Prior to discharge, the child was clinically stable with adequate feeding tolerance and satisfactory hydration status. Parents were educated regarding nasoduodenal feeding care, aspiration precautions, medication adherence, and recognition of warning signs such as respiratory distress, persistent vomiting, fever, or poor feeding. Advice was given regarding maintenance of proper nutrition, regular follow-up with pediatric gastroenterology, pulmonology, ENT,and plasticsurgerydepartments,and continuation of prescribed medications and nebulization therapy. Long-term follow-up was advised for monitoring growth, developmental milestones, hearing impairment, and respiratory complications.

Discussion

Chronic aspiration in infants is a significant clinical condition associated with recurrent respiratory symptoms, feeding difficulties, and poor weight gain. Gastroesophageal reflux disease is one of the major causes of recurrent aspiration in pediatric patients. In this case, the presence of congenital anomalies such as bilateral microtia, probable Treacher Collins syndrome, congenital cardiac defects, and hearing impairment increased the complexity of management. Tracheomalacia is characterized by weakness of the tracheal wall leading to airway collapse during respiration and may contribute to recurrent respiratory infections and aspiration symptoms. Early identification and multidisciplinary management are essential to prevent long-term pulmonarycomplicationsandnutritionalcompromise.Bronchoscopyplays an important role in evaluating airway abnormalities and guiding further management. Comprehensive management including anti-reflux therapy, appropriate feeding modification, airway evaluation, nutritional support, and parental education significantly improves clinical outcomes. Continuous follow -up is essential for early detection of complications and monitoring of developmental progress in children with multiple congenital anomalies.

Conclusion

Chronic aspiration associated with severe gastroesophageal reflux disease and airway abnormalities can result in significant morbidity in infants if not identified early. This case highlights the importance of thorough clinical evaluation, multidisciplinary management, and timely intervention in improving patient outcomes. Appropriate feeding strategies, supportive care, and continuous follow-up play a vital role in preventing recurrent aspiration and promoting adequate growth and development in affected children.

References

  • Shprintzen, R. J.(2012). Cleft palate and craniofacial anomalies: Effects on speech and resonance (3rd). Clifton Park, NY: Delmar Cengage Learning.
  • Dixon, J., Trainor, P., & Dixon, M.J (2007). Treacher Collins Syndrome. Orthodontics & Craniofacial Research, 10(2), 88 – 95.https://doi.org/10.1111/j.1601-6343.2007.00399.x

 

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