Short Cases M I CHA E L DE RYNCK, M D U N I V ERSITY OF CA LG A RY F E BR UA RY
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1 Short Cases MICHAEL DERYNCK, MD UNIVERSITY OF CALGARY FEBRUARY
2 Case 1: Beyond Bronchiolitis
3 Presentation 2 month old, term girl Cough and rhinitis, increased work of breathing, wheeze and apnea x 1 day Fatigue while feeding Hypotonia Hx: Entero/Rhino infection
4 Physical Exam T36.4 RR46 SpO 2 94% Noisy breathing Not dysmorphic CVS normal Air entry decreased on right No wheezes, few scattered crackles Hypotonic extremities and head lag
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7 CBG 7.31 // 41 // 45 // 21 CBC Hb 99 WBC 11.5, normal differential Plt 295 Electrolytes, Urea, Creatinine Normal CRP 52.3 Viral Panel Entero/rhino positive
8 Supplemental O 2 Apnea Tachypnea Apnea Secretions Hypotonia Resp Consult Feeding difficulties
9 Investigations Pertussis Chlamydia Negative Negative FEES Not safe to orally feed
10 Supplemental O 2 Tachypnea Apnea Apnea Secretions Resp Consult Apnea Apnea Apnea Hypotonia Feeding difficulties
11 RA O 2 RA O 2
12 We would always watch her sleep
13 Rosen, C. AASM Sleep Medicine Trends Pediatric Track 2016
14 Rate of Infants with One or More Extreme Events Ramanathan et al. JAMA 2001
15 Primary Congenital Late-onset central hypoventilation syndrome Idiopathic hypothalamic dysfunction Arnold-Chiari Malformation Apnea of prematurity Secondary Trauma Infection Tumour Central nervous system infarct Asphyxia Increase intracranial pressure Metabolic Drugs
16
17 Limited guidance to direct evaluation of suspected central apneas MR Head most routinely recommended investigation
18 Abnormal MR Findings OR (95% CI) Abnormal neurologic exam 29.5 ( ) Clinical GERD 11.2 ( ) Woughter et al. Otolaryngol Head Neck Surg 2015
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21 Joubert Syndrome Prevalence 1: Autosomal recessive 34 genes Hypotonia Ciliopathy Molar Tooth Sign Developmental Delay
22 Additional Features Ocular dysfunction Apnea Hyperpnea Hypotonia Percent Maria et al. J Child Neurol 1999
23 Respiratory Prognosis Dempsey et al. Am J Med Genet A 2017
24 Childhood Breathing Irregularities Snoring Apnea while asleep Apnea while awake Apnea at birth Tachypnea Tachypnea at birth Percent Kamdar et al. Pediatr Neurol 2011
25 Respiratory Management Spectrum of respiratory support: Low flow oxygen most common CPAP/BiPAP/tracheostomy much less common
26 Caffeine Role unclear
27 Other considerations Consider: Home monitoring Avoid opioids in anesthesia Use regional anesthesia
28 Disposition Home oxygen 0.5 L/min for 24 hours daily Home suction Overnight caregivers Exclusive NJ feeds
29
30 Take Home Messages Brain imaging useful with Neurologic findings Clinical GERD Joubert syndrome Hypotonia, delay, and molar tooth sign Supportive management Breathing improves with time
31 Case 2: It s never too late
32 Presentation 9 year old girl, refugee Cough x 16 days Right chest pain PMHx: Normal pregnancy, delivery Asthma (Ventolin prn)
33 Vitals CVS Resp GI T 37.3 C RR 23 SpO 2 98% RA Normal Mild WOB Decreased on right No wheeze, no crackles Normal No organomegaly
34
35
36 Timeline Symptom onset Transfer to ACH CXR CXR CXR Outpatient Inpatient Ceftriaxone Azithro Emerge
37 Day 7
38 Viral panel Pertussis Negative Negative CBC Electrolytes, Urea, Creatinine Liver transaminases Lipase Bilirubin WBC 10.2, normal differential Hb 151 Plt 354 Normal Normal Normal Normal
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47 Congenital diaphragmatic hernia 1 in 3300 live births Genetic and environmental influences Vitamin A pathway Aneuploidy Associated defects Cardiac, GI, GU Chandraskharan et al. Matern Heal Neonatol Perinatol 2017
48 Pathophysiology Diaphragm defect Visceral herniation Impaired fetal breathing Lung hypoplasia Pulmonary HTN
49 Late congenital diaphragmatic hernia 5-25% of CDH 80% left; 20% right; 2/3 dx < 1 year 2 male : 1 female Congenital vs acquired debate is ongoing Few associated anomalies Malrotation in 29% No apparent heritability
50 Pathophysiology Diaphragm defect Hepatic / splenic occlusion Eventual Herniation Lung hypoplasia Pulmonary HTN
51
52 Presenting features of late CDH Irritability Failure to thrive Chest pain Abdominal pain Recurrent respiratory Vomiting Cough Dyspnea/tachypnea Irritability Left, n= 205 Right, n= 42 Failure to thrive Chest pain Abdominal pain Recurrent respiratory infection Vomiting Cough Dyspnea/tachypnea Left Chronic Left Acute Percent Chronic Acute Baglaj. Pediatr Surg Int 2004
53 Initial radiographic diagnoses of late CDH Atelectasis Pneumonia with pneumatocoele Pyopneumothorax Cystic disease with pneumatocoele Paravertebral mass Mediastinal tumour Effusion with pneumatocoele Hydropneumothorax Lung cyst Pneumonia with abscess Opacification with effusion Pleural effusion Pneumonia with effusion Consolidation with pneumatocoele Pneumonia Pneumothorax Drainage Cases 25-62% misinterpretation Number Baglaj & Dorobisz Pediatr Radiol 2005
54 Initial radiographic diagnoses of late CDH Atelectasis Pneumonia with pneumatocoele Pyopneumothorax Cystic disease with pneumatocoele Paravertebral mass Mediastinal tumour Effusion with pneumatocoele Hydropneumothorax Lung cyst Pneumonia with abscess Opacification with effusion Pleural effusion Pneumonia with effusion Consolidation with pneumatocoele Pneumonia Pneumothorax Drainage Cases Number Baglaj & Dorobisz Pediatr Radiol 2005
55 Air-filled hollow viscera Air fluid level Soft tissue mass Interruption of the diaphragm Mediastinal shift Chao et al. Acta Paediatr Int J Paediatr 2010
56 Management Surgical correction generally completed
57 Disposition No surgical repair Risks > benefits Initiate QVAR Follow-up CDH clinic Cardiology
58 Splenic torsion Splenic incarceration Omental infarction Hepatic/biliary compression Large bowel strangulation Small bowel strangulation Gastric incarceration Gastric perforation Gastric volvulus Complications of Late CDH Percent Baglaj. Pediatr Surg Int 2004
59
60 Key Points Late CDH neonatal CDH Be suspicious! Misdiagnosis is common Heterogeneous radiographic and clinical presentation Surveillance guidelines
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