2. BY DR AYESHA TAHIR PGT MU1, Benazir Bhutto Hospital
CASE PRESENTATION BY
DR AYESHA TAHIR
PGT MU1, Benazir Bhutto Hospital

3. Demographic Profile Mr
Demographic Profile Mr. W 28 year-old male Unmarried Unemployed Resident of Rawalpindi Date of Admission: 15-jan-2018 Mode of Admission: Medical Emergency

4. Shortness of breath 7 days Cough
Presenting complaints
Fever
Shortness of breath days
Cough

5. Sudden, continuous, up to 104 with rigors and chills
History of Presenting Complaints
Fever
Sudden, continuous, up to 104 with rigors and chills
Shortness of breath
On mild exertion
Cough
Productive, copious sputum, greenish, foul smelling and blood streaked
No associated chest pain

6. Past Medical and Surgical history
Normotensive, normoglycemic and non-smoker
Episodes of fever, cough and difficulty in breathing since childhood
Multiple admissions in hospital
No history of TB or TB contact
No significant surgical history.

7. Uneventful birth, normal milestones
Personal History
Uneventful birth, normal milestones
History of missing school days and taking long leaves during academic tenure
Good learner, completed his graduation
Left his job due to illness

8. Two siblings with similar complaints
Family History
Three siblings
Two siblings with similar complaints
One sibling healthy
Both parents are alive and healthy
Consanguineous marriage
Mother is on anti-depressants

9. Drug history Oral and inhaled steroids Inhaled beta-2 agonist
N-acetyl cysteine sachet
Chest physiotherapy
Advised PEP device (Positive Expiratory Pressure)
Gets annual flu vaccine
Pneumococcal vaccine advised every five years

10. Systemic Inquiry CVS No history of orthopnea, PND or swelling of feet
CNS
On and off headache
GIT
No history of dysphagia, regurgitation, vomiting or epigastric fullness
GENITOURINARY
Not significant
EAR, NOSE and PARANASAL SINUSES
Nasal obstruction, History of post nasal drip

11. GENERAL PHYSICAL EXAMINATION
A young male of normal height, lean, dyspnoeic, sitting on a wheel chair with obvious discomfort, well oriented in time, place and person with vitals as:
VITALS
OTHER PARAMETERS
BLOOD PRESSURE
100/70 mmHg
Sao2
80% at room air
PULSE
120 bpm
WEIGHT
67 kg
RESPIRATORY RATE
28 /min
Height
5.10 ft
TEMPERATURE
102 °F

12. GENERAL PHYSICAL EXAMINATION
PALLOR
- ve
CLUBBING
+ ve
JAUNDICE
CYANOSIS
FLAPPING TREMORS
LYMPHNODES

14. RESPIRATORY SYSTEM INSPECTION Using his accessory muscles PALPATION
Trachea central
PERCUSSION
Percussion note impaired
AUSCULTATION
Bilateral inspiratory coarse crepitations and scattered polyphonic wheeze

15. CARDIOVASCULAR SYSTEM
INSPECTION
Normal JVP
PALPATION
Apex beat palpable in left 5th intercostal space along midclavicular line
Normal apex beat
No parasternal heave/ palpable murmur
AUSCULTATION
Normal 1st and 2nd heart sounds
No added sounds

16. Patient alert, conscious and oriented
CNS
Patient alert, conscious and oriented
GCS
15/15
POWER
NORMAL
REFLEXES
INTACT
SENSATIONS

17. GIT
No Viscseromegaly
GENITOURINARY
Un- Remarkable

18. ENT EXAMINATION
DNS towards left
Right inferior turbinate hypertrophy

19. Differential Diagnosis
Bronchiectasis with lower respiratory tract infection
Post infectious:
TB, pertussis, measles
Chronic aspiration
Congenital
Recurrent lower respiratory tract infections

20. MANAGEMENT Admitted in ward Supplemental oxygen Chest Physiotherapy
Nebulization with inj Colomycin and hypertonic saline
N-acetyl cysteine sachet
Inj Piperacillin/Tazobactam 4.5g IV QID
IV Steroids
Inhaled beta-2 agonist

21. INVESTIGATIONS

22. AFTER 10 DAYS OF ANTIBIOTICS
BLOOD CP
TLC
25,400 /cmm Neutrophils 82% Hb
17 g/dl
HEMATOCRIT
50%
MCV
85 fl
MCH
29 pg/dl
MCHC
34 g/dl
PLTs
414,000/cmm
ESR
50mm/hr
AFTER 10 DAYS OF ANTIBIOTICS
TLC
10,000 /cmm Neutrophils 70% Hb
16.9 g/dl
HEMATOCRIT
45%
MCV
87 fl
MCH
30 pg/dl
MCHC
33 g/dl
PLTs
410,000/cmm
ESR
45mm/hr

23. BLOOD BIOCHEMISTRY TOTAL BILIRUBIN 1.1 mg/dl AST 19 U/L ALT 16 U/L ALP
Urea
33 mg/dl
Creatinine
0.8 mg/dl

24. SERUM ELECTROLYTES Serum sodium 136 mmol/l Serum potassium 3.5 mmol/l
Serum chloride
98 mmol/l

25. Urine RE PHYSICAL MICROSCOPIC Color Yellow Appearance Clear pH 5.0
WBCs /HPF
Appearance Clear
RBCs NIL/HPF pH
EPITHELIAL CELLS /HPF
Specific gravity
CRYSTALS NIL/HPF
Protein Nil
CAST NIL/HPF
Glucose Nil
Bile pigments Nil
Ketones Nil
Blood Nil

26. ARTERIAL BLOOD GASES pH 7.45 Pco2 25 mmHg Po2: 50 mmHg Sao2 82% Hco3
18meq
Beb -2

27. MICROSCOPIC EXAMINATION
SPUTUM EXAMINATION
MACROSCOPIC
Thick
Turbid
Bluish green
Foul smelling
MICROSCOPIC EXAMINATION
ROUTINE EXAMINATION
Epithelial cells 6-8
RBCs
Pus cells
GRAM STAIN
GRAM POSITIVE COCCI
GRAM NEGATIVE BACILLI
Z-N STAIN
NO AFB SEEN
FUNGAL STAIN
NEGATIVE
CULTURE
Pseudomonas aeruginosa
SENSITIVITY
AMIKACIN, GENTAMICIN, PIPERACILLIN/TAZOBACTAM, COLISTIN
RESISTANCE
CEFTAZIDIME, CEFIPIME, CEFOPERAZONE, MEROPENEM, CIPROFLOXACIN

28. BLOOD CULTURE AND SENSITIVITY
NO GROWTH OBTAINED

29. ECG

30. CXR (PA VIEW)

31. HRCT CHEST

32. CT PNS (coronal view)

33. CT PNS (axial view)

34. 2D Echocardiography Normal sized cardiac chambers with LVEF 60%
Valves appear normal
No regional wall motion abnormality
PAP 30mmHg

35. Spirometery FEV1 55% ( 80% predicted) FVC 80% FEV1/FVC
FEF 25-75%
75%

36. GENOTYPING
DELTA F508 MUTATION ON CFTR GENE
Negative

37. Immuno assay IgA 480 mg/dl (70-400) IgG 1695 mg/dl (700-1600) IgM
IgE
160 ng/ml (<200)

38. SERUM PROTEIN ELECTROPHORESIS
Albumin
4.5 g/dl
Alpha 1
0.3 g/dl ( )
Alpha 2
1.0 g/dl ( )
Beta
1.1 g/dl ( )
Gamma
1.5 g/dl ( )
Total protein
8.2 g/dl

39. CTD screening
ANA
Negative
RA factor

40. A REVIEW OF MEDICAL HISTORY OF SIBLINGS

41. Mr. S, 30-year old male, Unmarried and Unemployed
SIBLING ONE
Mr. S, 30-year old male, Unmarried and Unemployed

42. Fever, productive cough and SOB ever since birth
Multiple admissions in hospital
Severe headache and nasal obstruction
A preterm delivery
A slow learner, studied till 9th grade

43. Examination
Clubbing
Apex beat palpable at right 5th intercostal space along midclavicular line
Bilateral inspiratory coarse crepitations
Right sided DNS
Left inferior turbinate hypertrophy
Bilateral nasal polyps

44. INVESTIGATIONS BLOOD COMPLETE PICTURE ACUTE SEVERE INFECTION ABGs
HYPOXIA
SPUTUM GRAM STAIN
GRAM POSITIVE COCCI
GRAM NEGATIVE BACILLI
SPUTUM Z-N STAIN
NEGATIVE FOR AFB
SPUTUM CULTURE
STREPTOCOCCUS
STAPHYLOCOCCUS
PSEUDOMONAS

45. ECG

46. CXR (PA view)

47. CT CHEST

49. CT PNS (coronal view)

50. CT PNS (axial view)

51. Ultrasound Abdomen
Transposition of viscera

52. Oral and inhaled steroids Inhaled beta-2 agonist
Currently On
Oral and inhaled steroids
Inhaled beta-2 agonist
N-acetyl cysteine sachet
Chest physiotherapy
Advised PEP device
Gets annual Flu vaccine
Advised pneumococcal vaccine 5 yearly

53. SIBLING 2
Mrs. A, 25 year-old female and a house wife

54. Uneventful birth, normal milestones
Good learner, completed her graduation

55. Remained asymptomatic until 5 years back when she developed on and off mild productive cough and SOB without fever
Married for three years, not able to conceive

56. Examination
Unremarkable except for
Rhonchi at right base

57. INVESTIGATIONS BLOOD COMPLETE COUNT Normal ABGs SPUTUM GRAM STAIN
Gram positive cocci
SPUTUM Z-N STAIN
No AFB seen
SPUTUM CULTURE
Streptococcus

58. CXR (PA view)

59. HORMONAL ASSAY LH 15.0 mIU/ml FSH 13.4 mIU/ml PROLACTIN 14.2 ng/ml
PROGESTERONE
28.9 ng/ml
ANTI MULLERIAN HORMONE
10.5 ng/ml
BHCG
<0.100 mIU/ml
TSH
0.9 µIU/ml

60. ULTRASOUND ABDOMEN/PELVIS
UTERUS:
Normal size, anteverted and empty
Normal myometrium texture
Normal endometrial echoes
OVARIES AND ADENEXA:
Normal
Urinary bladder:
No calculus or mass seen, normal wall thickness

61. HYSTEROSALPINGOGRAPHY
B/L patent fallopian tubes with free intraperitoneal spill

62. SEMEN ANALYSIS OF HUSBAND: NORMAL

63. CXR (PA VIEW) BY Dr. Umm-e-kulsoom Consultant radiologist Benazir Bhutto Hospital

64. HRCT CHEST

65. CT PNS (coronal view)

66. CT PNS (axial view)

67. Sibling 1 CXR (PA VIEW)

68. CT CHEST

70. CT PNS (coronal view)

71. CT PNS (axial view)

72. SIBLING 2 CXR (PA VIEW)

73. SPUTUM CULTURE AND SENSITIVITY
Pseudomonas aeruginosa
SENSITIVITY
AMIKACIN, GENTAMICIN, PIPERACILLIN/TAZOBACTAM, COLISTIN
RESISTANCE
CEFTAZIDIME, CEFIPIME, CEFOPERAZONE, MEROPENEM, CIPROFLOXACIN BY
Dr. Rabia Anjum
Consultant Microbiologist
Benazir Bhutto Hospital

74. SUMMARY PRIMARY PATIENT: BRONCHIECTASIS and RHINOSINUSITIS SIBLING 1:
BRONCHIECTASIS, RHINOSINUSITIS and SITUS INVERSUS
(KARTAGENER SYNDROME)
SIBLING 2:
BRONCHIECTASIS and INFERTILITY

75. DIAGNOSIS Bronchiectasis Congenital Cystic fibrosis
Primary immune deficiency
Young’s syndrome
Primary ciliary dyskinesia

76. PRIMARY CILIARY DYSKINESIA CONT……