Transcript Case Conference: A Zebra Like Cystic Fibrosis

Western States Pediatric
Pulmonary Case Conference
Cough, Hypoxia, and
Down Syndrome
Emily DeBoer, MD
The Children’s Hospital
University of Colorado
September 22, 2010
Outline
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Case presentation: Cough, Hypoxia, and Down
Syndrome
Differential Diagnosis
Multi-system complications of patients with
Trisomy 21
Treatment and Monitoring
Chief Complaint
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9 month old female with Down Syndrome
referred to pulmonary clinic for initial evaluation
because of cough and persistent oxygen
requirement
History of Present Illness
Daily cough for months - day and night
 No increased work of breathing
 Snoring
 Gags with jejunal feeds
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 Treated
with Ranitidine
 Severe oral aversion, tastes by mouth
Past medical/surgical history
Trisomy 21
 Born at 36 weeks in Colorado
 Esophageal atresia without TEF
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 GT
placment DOL 1
 Gastric pull-through at 4 months
On and off oxygen
 Ventilated x 1 week after surgery
 Discharged at 5 months on ¼ lpm O2 via
nasal cannula
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PMH/PSH
PDA ligation at 5 months of age
 Recent echo revealed – “normal function,
small left to right ASD, mild TR”
 Monthly esophageal dilations – tolerated
well
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Meds at visit
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Ranitidine
Spironolactone/hydrochlorothiazide
¼ lpm oxygen
No inhaled medicines
No steroids
Review of Systems
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No fevers
Adequate growth
No hemoptysis
No vomiting
No steatorrhea
Normal thyroid
No hematuria
Sitting with support
Family and Social History
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No asthma, allergies, or lung disease in the
family
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Lives with mom, “adopted grandparents” in
Denver
Parents are from Senegal
No known TB exposures
No pets
No smokers
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Physical Exam
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Vitals HR 136 | RR 28 | Ht 65 cm (43%) | Wt 7.5
kg (39%)
 SaO2
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88% RA | SaO2 95% ¼ lpm
General: happy baby, + drooling
HEENT: Down’s facies, small nares, +rhinorrhea
Chest: Easy work of breathing, clear to
auscultation, prolonged expiratory phase
CVS: RRR, normal S1 and S2, no murmur
Abd: Soft, non-tender, no hepatosplenomegaly
Ext: No clubbing
Neuro: Decreased truncal tone
Chest Xray at 8 months of age
What should we do?
What should we do?
Differential Diagnosis – cough, hypoxia
 Reflux / aspiration
 Pulmonary edema
 Airway anomaly / poor airway clearance
 Asthma
 Interstitial lung disease
 Pneumonia/infection
What should we do?
Differential Diagnosis – cough, hypoxia
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Reflux / aspiration
Pulmonary edema
Airway anomaly / poor airway clearance
Asthma
Interstitial lung disease
Pneumonia/infection
Because of her Down Syndrome, she is at risk for
aspiration, heart disease, tracheal anomalies, obstructive
sleep apnea, pulmonary hypertension
Bronchoscopy
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Erythematous mucosa
Copious clear secretions
Mild-mod malacia of trachea and both mainstem bronchi
COLOR
CHARACTER
NUCLEATED CELLS
RBC
RBC MORPH
SEGS
LYMPHS
MONOCYTES
MACROPHAGES
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COLORLESS
HAZY
910
1705
NORMAL
55
18
7
17
LIPID INDEX = 0.
IRON INDEX = 270.
Bacterial and viral cultures: negative
What should we do now?
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Cause of increased iron index?
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Treatment?
Disorders with pulmonary capillaritis
 Disorders without pulmonary capillaritis
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 Noncardiovascular
 Cardiovascular
Chronic heart failure
 Pulmary Hypertension
 Pulmonary veno-occlusive disease
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Follow-up via phone
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New symptoms
 Rhinorrhea
 Increased
cough, respiratory rate
 Sleeping more
 Requiring ½ - 1 lpm O2
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Intervention
5
days of oral steroids
Follow-up
Outpatient echocardiogram scheduled
 Improved for 2 weeks, then symptoms
returned
 Treated with 5 more days oral steroids by
her PCP
 Symptoms do not resolve – present to ED
 Further history – taking liquids by mouth
for 6 weeks as instructed by therapy
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Physical Exam in ED
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Vitals HR 180 | RR 62 | SaO2 94% 3 lpm
General: Infant in moderate respiratory distress
HEENT: Down’s facies, +rhinorrhea
Chest: Subcostal retractions, tachypneic,
coarse symmetric breath sounds
CVS: Tachycardic, prominent S2, 2/6 systolic
flow murmur at LLSB
Abd: Soft, non-tender, Liver down 3 cm
8 months of age
12 months of age in ED
What should we do?
What should we do?
Differential Diagnosis – cough, hypoxemia,
prominent S2, hepatomegaly
 Pulmonary hypertension
 Aspiration
 Heart failure
 Infection
Laboratory
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CBC
 11.6
WBC 81% Segs, 8% Lymphs, 10% Monos
 Hb 16.3 g/dL / Hct 51.4 %
 Platelets 221
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CBG
 pH
7.43
 CO2 34 mm Hg
Echocardiogram
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Small secundum ASD with bidirectional flow.
Moderate right heart enlargement and moderate
septal flattening.
Normal left ventricular size and systolic function.
Low normal RV systolic function.
Systemic pulmonary hypertension (on 3 lpm NC
O2).
 TV jet 4.48 m/second
 RV-RA grad 80 mm Hg (SBP 90/69)
Pulmonary Hypertension
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Causes?
Pulmonary Hypertension
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Causes of secondary PAH
 Cardiac/Vascular
anomaly
 Chronic lung disease
 Trisomy 21
 Aspiration / reflux
 Overcirculation from PDA (repaired at 5 months)
 Obstructive sleep apnea
 Thromboembolic disease
 Collagen vascular disease
 Thyroid disease
 HIV
Pulmonary Hypertension
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Causes of secondary PAH
 Cardiac/Vascular
anomaly
 Chronic lung disease
 Trisomy 21
 Aspiration / reflux
 Overcirculation from PDA (repaired at 5 months)
 Obstructive sleep apnea
 Thromboembolic disease
 Collagen vascular disease
 Thyroid disease
 HIV
Cardiac catheterization
30% FiO2
Qp/Qs = 1.25:1; Rp/Rs = 0.46
21% FiO2
Qp/Qs = 1.25:1; Rp/Rs = 0.64
100% FiO2 with 40 ppm iNO
Qp/Qs = 1.14:1; Rp/Rs = 0.47
Pulmonary Hypertension
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Causes of secondary PAH
 Cardiac/Vascular
anomaly
 Chronic lung disease
 Trisomy 21
 Aspiration / reflux
 Overcirculation from PDA (repaired at 5 months)
 Obstructive sleep apnea
 Thromboembolic disease
 Collagen vascular disease
 Thyroid disease
 HIV
Chest CT
Chest CT - prone
Esophagram
•Thread-like appearance of
distal esophagus
•Fundus of stomach superior to
the diaphragm
•No normal peristalsis –
movement of feeds only with
gravity
Swallow study
•Deep laryngeal penetration with thin liquids.
•No aspiration with pureeds.
Pulmonary Hypertension
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Causes of secondary PAH
 Cardiac/Vascular
anomaly
 Chronic lung disease
 Trisomy 21
 Aspiration / reflux
 Overcirculation from PDA (repaired at 5 months)
 Obstructive sleep apnea
 Thromboembolic disease
 Collagen vascular disease
 Thyroid disease
 HIV
Polysomnogram
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Mild sleep-disordered
breathing
Apnea-hypopnea
index of 3 events/hour
SpO2 in low 80s in RA
SpO2 in mid 90s on
¼ lpm NC
(≥92% for 99% of TST)
Obstructive Sleep Apnea does not explain PAH
Pulmonary Hypertension
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Causes of secondary PAH
 Cardiac/Vascular
anomaly
 Chronic lung disease
 Trisomy 21
 Aspiration / reflux
 Overcirculation from PDA (repaired at 5 months)
 Obstructive sleep apnea
 Thromboembolic disease
 Collagen vascular disease
 Thyroid disease
 HIV
Further laboratories
Protein C and S
 Prothrombin
 Antithrombin III
 Lupus Anticoagulant
 Factor V Leiden
 Homocysteine
 Beta 2 GP1 (antiphospholipid) antibodies
 Cardiolipin IgG and IgM
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Pulmonary Hypertension
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Causes of secondary PAH
 Cardiac/Vascular
anomaly
 Chronic lung disease
 Trisomy 21
 Aspiration / reflux
 Overcirculation from PDA (repaired at 5 months)
 Obstructive sleep apnea
 Thromboembolic disease
 Collagen vascular disease
 Thyroid disease
 HIV
Further laboratories
ANA, ESR, CRP
 TSH and free T4
 HIV
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Treatment of PAH –
Vasodilation and Diuretics
Continuous oxygen
 Oral Sildenafil – started at 0.5 mg/kg/dose
and titrated to 2 mg/kg/dose q6h
 Furosemide 1 mg/kg/dose TID
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Thromboembolic disease can
contribute to PAH
Elevated Beta 2 GP1 antibodies and low
antithrombin III
 Discussed aspirin or coumadin therapy
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Patient’s Echo Changes with
Therapy
Date of
Echo
Oxygen use
via nasal
cannula
RV-RA gradient
(calculated from TR
jet)
Degree of
septal
flattening
Right heart
enlargement
Week 0
3 lpm
80 mm Hg
Moderate
Moderate
Week 1
1 lpm
60 mm Hg
Moderate
Moderate
Week 2
½ lpm / off
50 mm Hg / 70 mm
Hg
Mild /
Moderate
Mild
Week 6
½ lpm
Unable to estimate;
no TR jet
Normal
geometry
None
Conclusions
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Cause of Pulmonary Hypertension
 Chronic
lung disease
Primary Aspiration
 Trisomy 21
 Overcirculation prior to PDA closure
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 ?Thromboembolic
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disease
Cause of increased iron index
 Pulmonary
Hypertension
Conclusions
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Cause of her hypoxia
 Pulmonary
hypertension
 Chronic lung disease
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Cause of her cough
 Chronic
lung disease
 Airway protection (aspiration/reflux)
 Airway Malacia
Discussion
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Open lung biopsy?
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Repeat bronchoscopy and BAL?
Outline
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Case presentation: Cough, Hypoxia, and Down
Syndrome
Differential Diagnosis of Cough and Hypoxia
Multi-system complications of patients with
Trisomy 21
Evaluation for Elevated Iron Index and
Pulmonary Hypertension
Treatment and Monitoring of PAH
Thank you!
4
infants with acute pulmonnary
hemorrhage
stain first seen 50 hours –
5 days from event
Clearance in 1-2 weeks
Hemosiderin