congenital hypothyroid-1 - Copy [Autosaved].ppt

CH

1. CLINICAL MEETING
Presented by
Dr Fatima Tuz Zuhra
MD Phase B(Pediatrics)
SSMC & MH

2. Particulars of the Patient
•Name : Sumaia
•Age : 9 months
•Sex : Female
•Address : Munshigonj
•DOA : 03.07.2024
•DOE : 10.07.2024
•Informant : Mother

3. PRESENTING COMPLAINTS
•Fever for 2 days
•Cough for same duration
•Not growing well in comparison to other peers

4. H/O Present Illness
According to the statement of informant
mother her child was reasonably well 2
days back.Then she developed fever that is
low grade , intermittent ,highest recorded
temperature is 101 F, not associated with
chills and rigor subsided after taking
antipyretics. She also has h/o cough that is
non productive with no

5. H/O Present Illness
diurnal variation . She also has similar type
of attack 3 months back . She also has H/O
not growing well as neck control is not
achieved yet. She also gives H/O
constipation for which occasional use of
laxative is present.

6. H/O Present Illness Cont’d……
On query mother also informed that, her
baby remained excessive sleepy & less
active & cry with hoarse voice. She had h/o
delayed passage of meconium & prolonged
neonatal jaundice but no history of pale
stool, feeding difficulty, respiratory
distress, no h/o taking offending drug.

7. H/O Present Illness Cont’d……
The mother had no h/0 taking any offending
drug or exposure to radiation during her
pregnancy. For these mentioned complaints
she was treated by local physician several
times. As condition was not improving was
referred to SSMCMH.

8. Past History
•There was no significant history of past illness;
Birth History
•She was delivered by NVD at term at
home without any complication.
•Mother was on irregular ANC.
•Pregnancy period was uneventful, passed
meconium after 24hrs of birth.

9. Feeding history
EBF up to 6months of age. Now on family
diet.

10. Developmental history
Fine motor :palmer grasp present
Neck control : not achieved
Hearing :intact
Speech :cries only
Social smile : not achieved

11. Immunization history
Immunized as per EPI schedule
Family history
1
st
issue of non consanguineous parent.
Other family members are in good health.
No h/o such type of disease in her family.

12. Socioeconomic history
His father is a small businessman &
mother is a housewife.
Average monthly income BDT 15,000.
They lives in tin shed house, use sanitary
latrine, drinks tube well water

13. General Examination
APPEARANCE:
Coarse facies with dull
expression, less interested
to surroundings.
Mouth open with
protruding tongue,
depressed nasal bridge, no
dentition, Swollen eyelid.

14. General Examination Cont’d……
Anemia : Mild
Jaundice : Absent
Cyanosis : Absent
Clubbing : Absent
Koilonychia : Absent
Edema : Absent
Dehydration : Absent
Lymph nodes : Not palpable
Eye : normal

15. General Examination Cont’d……
•Thyroid gland : Not enlarged, no
thyroglossal cyst
•Neck : Short
•Bony tenderness : Absent
•Ear, nose & throat: Normal
•BCG Mark : Present
•Skin Survey : Dry, rough, thick

16. General Examination Cont’d……
•Fontanel : Anterior(3.5×1.5)
Posterior(Closed)
•Signs of meningeal irritation: Absent
•BSUA : Nil
•Extremity : Hands are broad,
short & stumpy, no
simian crease, no increased gap between 1
st
& 2
nd

toe, no clinodactyle
•OFC : 41Cm

17. General Examination Cont’d……
•Vital signs:
Temperature: 98.6°F
Heart Rate : 110/ min
R/R : 38/min
BP : 80/50mm of Hg
SBP on 50th centile
DBP on 50
th
centile
Saturation of oxygen: 96% in room air.

18. Anthropometry
Weight : 6.5 kg
Length : 60cm
WAZ : -1.9SD
LAZ : -4.5SD (Severely stunted)
UPPER SEGMENT: LOWER SEGMRNT (1.5:1)
OFC : 41cm

-1.8SD

19. SYSTEMIC EXAMNINATION:
RESPIRATORY SYSTEM:
Inspection: R/R :38 /min
Chest : Normal in size and shape
Suprasternal ,subcostal recession :absent
Chest expansion : Symmetrical
Palpation:
Trachea : centrally placed

20. RESPIRATORY SYSTEM:cont.
Apex beat : on left 4
th
ICS ,lateral to MCL
Vocal fremitus : normal
Purcussion : Resonant.
BREATH SOUND: Vesicular
ADDED SOUND :Rhonchi present

21. CARDIOVASCULAR SYSTEM:
•Pulse :110 /min, regular ,no R/R or R/F delay
•Precordium :inspection
not bulged. No visible pulsation.

Palpation :Apex Beat is on left 4
th
ICS just
medial to MCL. No thrill ,left parasternal heave
or palpable P2 is present.

22. CARDIOVASCULAR SYSTEM:cont.
•Auscultation : 1
st
and 2
nd
heart sound audible
in all cardiac area but an ejection systolic
murmur is present on left 2
nd
ICS ,GRADING
3/5 with no radiation

23. SYSTEMIC EXAMNINATION:
ALIMENTARY SYSTEM:
Inspection:
Mouth and fauces: Normal
Tongue : Protruded.
Abdomen : Slightly distended, umbilicus centrally
placed, no umbilical hernia, visible vein, scar mark
Palpation:
Liver : Not palpable
Spleen : Not palpable.
Purcussion : No evidence of ascites.
Auscultation: Bowel sound - present

24. NERVOUS SYSTEM:
Higher Psychic Function : Conscious, less interested
to surroundings
Cranial nerves : Intact
Sensory : Intact
Tone : Generalized hypotonic
Bulk : Normal
Power : 4/5
Jerk : Normal

25. Developmental Assessment
Gross motor: neck control partially achieved
Fine motor: palmer grasp present
Vision : Intact
Hearing: Intact
Speech :cries only
Cognition: Can recognize mother

26. Salient feature
Sumaia, 9months old girl, immunized as
per EPI schedule 1
st
issue of non
consanguineous parents belongs to low
socioeconomic background hailing from
Munshigonj got admitted with the
complaints of fever and cough for last 2
days and not growing well since

27. Salient feature cont.
birth & delay in achieving milestone of
development in comparison to other peers of
her age .Fever was low grade , intermittent
and cough was for last 2 days.She has similar
type of attack 3 months ago

28. Salient feature cont’d …..
She had h/o delayed passage of meconium,
prolonged neonatal jaundice, lack of interest to
surroundings, excessive sleepiness & poor cry
with hoarse voice. She had no history of pale
stool, feeding difficulty, respiratory distress, no
h/o taking offending drug.

29. Salient feature cont’d …..
The mother had no h/0 taking any offending
drug or exposure to radiation during her
pregnancy. On examination Sumaia was
developmentally delayed, dull looking, less
interested to surroundings ,having coarse facies
with depressed nasal bridge, open mouth with
protruded tongue, no dentition yet.

30. Salient feature cont’d …..
scanty hair ,open anterior fontanelle
(3.5×1.5cm), OFC normal, mildly anemic, short
neck, broad all 4 limbs, skin is dry, rough & thick,
vitals within normal limit, anthropometrically
severely stunted & altered upper segment &
lower segment ratio . On auscultation bilateral
rhonchi was present on both lung field.

31. Salient feature cont’d …..
Precordium was not bulged ,no visible
pulsation, apex beat was on normal position , no
thrill,1
st
and 2
nd
heart sound audible in all cardiac
areas ,an ejection systolic murmur present on
left 2
nd
ICS grading 3/6,no radiation . Abdomen
was distended without organomegaly . There
was generalized hypotonia , jerks normal & had
developmental delay.

32. ANY QUESTION

33. Provisional diagnosis
Congenital Hypothyroidism with bronchiolitis
with congenital acyanotic heart disease(Atrial
septal defect) with stunting with developmental
delay

34. Differential diagnosis
•Down Syndrome with bronchiolitis with
congenital acyanotic heart disease(Atrial
septal defect) stunting with developmental
delay

35. Differential diagnosis
•Mucopolysaccharidoses with bronchiolitis
with congenital acyanotic heart disease(Atrial
septal defect) stunting with developmental
delay

36. Congenital Hypothyroidism
Points in favour
From History
•Delayed passage of
meconium
•Prolonged neonatal jaundice
•Less interested to
surroundings
•Not growing well in relation
to other peers
•Examination: Charactristic
facies, open fontanelle,dry
rough skin, distended
abdomen,generalized
hypotonia,developmental
delay

37. Down syndrome
POINTS IN FAVOUR
1.H/O prolong jaundice
2.Depressed nasal Bridge
3.Protruded tongue
4.Hypotonia
POINTS AGAINST
1.No characteristic Facial
dysmorphism
2.No single Transverse
palmar Crease or
Clinodactylae or wide
sandal gap

38. Mucopolyssacharidosis
POINTS IN FAVOUR
1.Coarse facies
2.Depressed nasal bridge
3.Dry skin
POINTS AGAINST
1.Consanguinity absent
2.Corneal clouding absent
3.No organomegaly

39. POINTS IN FAVOUR of
broncheolitis
1.Low grade fever
2. Cough
3. Ronchi present in both
lung field
POINTS FAVOUR of ASD
1.Recurrent RTI
2.Ejection Systolic
Murmur on left 2
nd
ICS

40. INVESTIGATIONS
•CBC:
Hb% : 9.8gm/dl
TC of WBC: 7000/cumm
DC : N-46%, L-51%
Platelet: 3,60000/cumm
MCH :29pg
MCHC :33g/dl
MCV :88fl

41. PBF:
RBC: Normochromic,normocytic
WBC: shows as distribution.
Platelet: Adequate

42. COMMENT:DELAYED BONE AGE

43. Investigations….CONTD
FT4: 0.16ng/ml (0.61-1.13)
TSH: 291microIU/mL (0.3-5.0microIU/mL)

44. USG of Thyroid gland:
No visualized thyroid gland
CRP: 2 mg/dl
Thyroid scan: was planned

47. •Congenital Hypothyroidism with
bronchiolitis with congenital acyanotic
heart disease(Atrial septal defect) with
stunting with developmental delay
Final diagnosis

48. Management
- Counseling.
- Supportive treatment
Nebulization with 3% NaCl
- Specific treatment:
Sodium-l- thyroxin 8μgm/kg once daily in the
morning in empty stomach.

49. Follow Up
•Biochemical:S.FT4 & TSH
0-6 month=Every 1-2 months
6m-3year =Every 2-4 months
>3year =Every 6 month

50. Follow Up cont.
•Clinical
1. measuring height, developmental assessment,
IQ assessment
2. Expected response: Regular bowel movement,
reduction in weight & puffiness, increase pulse
rate, reduction of hoarseness of voice,
Changes in skin & hair