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  1. CASE PRESENTATIONMR#2253673 By Arslan Arshad MD Dora M Alvarez MD Director and Chief of PICU

  2. CC and HPI 2 years old Hispanic female admitted on 3/15/09 with history of mild persistent asthma with poor control, admitted in moderate respiratory distress secondary to asthma exacerbation

  3. History Of Present Illness • This is 6 hospitalization, she was in her usual state of health until 2 days PTA, she presented with URI, mild dry cough and shortness of breath from one day, no fever, received Albuterol neb at home 2 times with no improvement. • No runny nose , normal PO intake, no vomiting or diarrhea. • Positive sick contact, younger brother has URI and wheezing. • NO history of travel, no NKDA/NKA

  4. Birth History: Born at Florida, FTAGA, NSVD , uncomplicated antenatal, labor and neonatal course. Medical history: No other medical problem except for Asthma

  5. Asthma History: • Age Dx: 4 months • Risk: 5 hospital admission and multiple ER visits • Control Medication: • Flovent(110mcg) BID, from last 8 months. • Impairment / Control: • Day Symptoms: • Coughing - < 2days/week intermittent. Wheezing - < 2days/week intermittent. • Nighttime Awakenings: • 1-2x / month mild persistent, • Short Acting beta agonist use: • >2 days/week but not daily mild persistent. • Interference With Normal Activity: • minor limitation mild persistent.

  6. ROS: “as written in the adm. HPI” • Review of Systems ROS all: unremarkable Constitutional: unremarkableOphthalmologic: unremarkableOtolaryngologic: unremarkableCardiovascular: unremarkableRespiratory: as stated in HPIGastrointestinal: denies: nausea; vomiting; diarrhea;Genitourinary: denies: urinary retention;Musculoskeletal: unremarkableIntegumentary: unremarkableNeurologic: unremarkableAllergy/Immuno: unremarkable

  7. Home Environment/ Family Hx Family Hx: • Father Hx of Childhood asthma • No Hx of other chronic respiratory illness or Allergies. Environmental Hx: • Lived in Florida till 1 year ago ( 1 yo) • Move to Bronx and live with Maternal Grand mother. • Move to Shelter 4 months PTA • 1 month PTA move to Queen. Lives with mother only (parents separated), private home no pet , no cat , no smoke exposure.

  8. ER: 03/15/09 (Time: 2000) • VS: T - 98.6F P - 138 RR - 54 O2 - 92% RAWt: 50 %, Ht: 75 %, BMI: 10-25 % • Patient alert, active • In mild to moderate respiratory distress Tachypnea, with good air entry B/L, wheezing in both lung field, no rales. • No heart murmur, good distal pulses, capillary refill <2 second.

  9. ER 03/15/09 (2000) • Rx: Albuterol/Atrovent 4 time • Prelone 25 mg PO (vomited) • Methylprednisolone IV 25mg • Magnesium sulfate 0.6 g IV • Terbutaline SQ 0.12 Continued to have tachypnea and retractions, decided to admit at PICU • ER Labs:CBC 14.4/13.7/41.2/324 N 76.3 , L 20.7 , E 0.6SMA : 136/3.5/107/16/15/8-0.5 Ca 9.3CXR: B/L PBT , no infiltrate or effusion.

  10. Chest X-ray

  11. Lateral Chest X-Ray

  12. PICU : 03/16/2009 (time 0017) • VS: Temp: 98.6 F,HR: 170/min, RR: 39,BP: 105/42, O2 Sat: 94 %,Wt: 11.6 kg. • On admission to PICU the pt alert, active with moderate respiratory distress, she was communicative and cooperative with the staff , speech in full sentence.

  13. PICU Physical Examination • ENT: • Both TM are normal, no redness ,no bulging • Normal nasal mucosa without erythema,( no Nasal polyps, Nasal turbinates are of normal size, pale) • Throat/Mouth: no erythema, no exudates, no ulcerations,

  14. Chest: symmetrical chest movements, with sub costal , intercostals and suprasternal retractions. • Lungs: fair air entry , with bilateral wheezing , no rales. • Heart: S1 and S2 present, rate and rhythm regular, no murmur . • Abdomen: soft- nontender, bowel sounds present, no visceromegaly. • Extremities: good capillary refill, good pulses

  15. Assessment 2 year old Hispanic female with early onset of asthma at present mild/moderate persistent with poor control, strong risk factor (father asthmatic) , admitted in moderate respiratory distress secondary to asthma attack exacerbation precipitated by URI

  16. Plan • Admit to PICU • Cardio respiratory monitor • VS q1hr • Oxygen by NC 2 l/min • NPO • IVF 1 ½ M • Albuterol q2hs alternated with Atrovent q2hrs • Methylprednisolone 12mg IV q6hrs • Tylenol prn if fever

  17. Hospital Course

  18. HD # 1 • Patient responded to “standard asthma therapy” • Oxygen therapy • Frequent Albuterol/Atrovent Nebulizer, • IV Solumedrol • IV Fluids. • Respiratory distress improved and Oxygen requirement decrease, gradually.

  19. HD # 2 • Patient was noted to have continuous coughing spell with post tussive vomiting. • Pertusis etiology was entertained and studies done and Patient started on Zithromax • She was started on IV ranitidine for possible GERD component. • No significant improvement, she continues with intermittent tachypnea and SC retractions.

  20. On further questioning about past respiratory history, mother stated that this was her “base line”. • “Intermittent tachypnea, frequent coughing and chest retractions” • On Clinical reassessment, it was found that patient has nail clubbing (see picture)


  22. Mother also reported that patient has “hemorrhoids” as she was told by PMD diagnosed 8 months back and reported to Admitting Doctor during admission. • On direct observation in the unit when patient was having bowel movements it was noticed a protrusion of rectal mucosa, consistent with rectal prolapse, rather than Hemorrhoids. • (See picture)

  23. Rectal prolapse is shown in a toddler not previously recognized as having cystic fibrosis.

  24. Mother also reported that patient was having frequent, non bloody bulky stools, which floats. • She was eating a lot ( 4 meals, 2 snacks, and 7-8 glasses of juice and maintaining her growth parameters Wt: 50 %, Ht: 75 %, BMI: 10-25 % • On physical examination found to have large liver: 3 cm, round margins, non tender, with smooth margins • With above history the diagnosis of Cystic fibrosis was entertained and planned work up.

  25. Respiratory studies • Respiratory Cultures done twice for pseudomonas and H -Influenza were negative • Nasopharyngeal swab was negative for any infectious growth. • PPD was placed and came negative • Sweat test was scheduled at Columbia Presbyterian on 03/26/09. • Genetic study for CF mutation was send to Quest. • NB screening retrieved from PMD in Florida, was negative including Cystic fibrosis.

  26. Malabsorption studies • GI was consulted over phone • Upper GI done showed mild GERD but no anatomic abnormalities, no Hernia seen. • Stool studies for Ova and parasite came negative, • Fecal fat ( +4) indicate severe steatorrhea, • Pancreatic Elastase was low (< 15/200) indicating having severe pancreatic impairment.

  27. Serum amylase and lipase were normal. • Vitamin A,D and E were collected and low. • PT/INR (14.6/1.39 sec) mildly elevated • APTT: 29.3 mildly elevated • Started on 3 days of vitamin K injection • Repeat PT and APTT was normal.

  28. Mild hepatomegaly • USG: showed mild hepatomegaly otherwise normal. • Viral hepatitis markers (hepatitis A, HepBsAg (Anti Hbs antibody reactive = fully vaccinated), • Anti HCV are negative • EBV: IgM and IgG for capsid antigen positive • EBVIgM NA: positive (suggestive of recent EBV infection)

  29. CMV positive for Ig G and negative for Ig M (suggesting previous infection). • Ceruloplasmin: 15.1 mildly decreased • AFP tumor marker: 5.6 normal • ANA negative • Alpha 1 antitrypsin: 158 normal • Soluble liver antigen,total are normal • Ferritin: 42.3 (normal) Iron:11 (low) and TIBC: 291 (normal)

  30. Genetics • Patient was consulted with Geneticist for the CF carrier gene studies .

  31. Management • Pt was started with Regular Chest Physical therapy after each nebulization with albuterol and atrovent. • Continue with asthma therapy. • Received Timentin IV till cultures were negative (Pseudomonas and Staphylococcus). • Nutrition support. Multivitaminsincluding vitamin A & D.

  32. FOLLOW UP • Patient was Discharged home on HD # 11 with Asthma therapy, PO ranitidine, multivitamins. • Mother was instructed on Chest Therapy • Patient will follow up appointment for Sweat test and cystic fibrosis center Columbia.

  33. Revisit in ER ( 1 day after discharge) • Patient was seen in ER with complaints of Abdominal pain and Vomiting 8 episodes( NP, NB, NB). • Pt was assessed as • “known moderate persistent asthmatic”; • “today in mild respiratory distress, and Gastritis” • Pt treated with Albuterol/ Atrovent X3 , Prelone, Zantac.

  34. Patient was followed up in ER by Pulmonologist PICU Director( followed with sweat chloride test which came positive: Cl+ 91 mM/L consistent with CF) • Abdominal X- ray was requested which showed impactation of stools in colon and rectum with no other abnormalities.


  36. Consulted GI specialist decided to transfer patient to Columbia Presbyterian with diagnosis of Distal Ileal Obstruction ( counterpart of meconium ileus in older children) as complication of CF. • Genetic studies for CF was reported negative for 23 mutation including Delta 508.



  39. SWEAT CHLORIDE TEST INTERPRETATION • The sweat electrolyte test is performed to determine the amount of chloride that is excreted in sweat from the body during a certain period of time. The test may be performed on infants to determine if cystic fibrosis is present. Children with cystic fibrosis have increased sodium and chloride concentrations in their sweat. • Sweat Chloride >60 m Eq/L is diagnostic • Sweat Chloride <40 m Eq/L Exclude Cystic Fibrosis • Sweat Chloride 40-60 m Eq/L is Indeterminate and usually repeated after a while.

  40. Cystic fibrosis (CF) is the most common fatal, inherited disease in the United States. • It is a genetic disorder resulting from the inheritance of a defective autosomal recessive gene. • The average life expectancy of the 30,000 CF patients currently alive in the U.S. is under 30. • The gene responsible for CF located on chromosome 7. codes for the cystic fibrosis transmembrane conductance regulator (CFTR).

  41. PATHOPHYSIOLOGY • A cyclic AMP regulated Chloride ion channel is found in the apical membranes of secretary epithelial cells. • Mutations in CFTR disrupt epithelial ion transport. • These mutations results into the production of abnormally thick, tenacious mucus secretions into the lungs, gut, pancreas, and hepatobiliary system. • Abnormal chloride transport is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR)

  42. CFTR is made up of five domains. • Two membrane-spanning domains that form the chloride ion channel • Two nucleotide-binding domains that bind and hydrolyze ATP • A regulatory domain




  46. Presenting Features of Cystic Fibrosis

  47. Meconium ileus. Barium enema in a newborn with meconium peritonitis and evidence of a small, unused distal colon (note small extraluminal calcifications).

  48. Meconium ileus. Gross appearance of the thick, tarlike Meconium found at laparotomy in Meconium ileus.

  49. Nasal polyps in a patient with cystic fibrosis