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CLINICAL CASE PRESENTATION
- S.SHALINI
- FINAL YEAR STUDENT
DOWN SYNDROME
PERSONAL DETAILS
• NAME : Surya
• AGE : 3YEARS
• SEX : MALE
• ORDER : 1
• MARRIAGE : NON CONSANGUINOUS
• ADDRESS :PORUR, CHENNAI , Tamilnadu
• INFORMANT : MOTHER, {reliable}
• Name : Devi, Age: 35 years old
• SES : LOWER MIDDLE CLASS ( ACCORDING TO B.G PRASAD )
CHIEF COMPLAINTS
• A known case of DOWN SYNDROME child came with the chief
complaints of
• Cough with expectoration for 1 week
• Running nose for 1 week
• Fever for 5 days
HISTORY OF PPRESENTING ILLNESS
The patient was apparently normal before one week the he developed ,
h/o cough with expectoration - on an off for 1 week , which was
sudden in onset , progressive in nature , not associated with any
other symptoms, no diurnal variation , no aggravating factor , relived
by taking cough syrup. It was associated with profuse , non foul
smelling, greyish white colour and mucous in consistency
h/o nasal discharge – on and off for 1 week which was sudden in
onset , progressive in nature , which is in clear , serous in consistency,
non offensive in nature . With no aggravating and reliving factors.
HISTORY OF PPRESENTING ILLNESS
• H/O of fever – for past fived days , which was sudden in onset , it was a low
grade continuous fever, not associated with evening rise in temperature
• no h/o poor feeding
• No h/o chills and rigor
• No h/o noisy breathing or difficulty in breathing
• No h/o ear discharge
• No h/o loose stools
• No h/o rashes
• No h/o foreign body aspiration
• No h/o weight loss
PAST HISTORY
• H/o similar episodes in the past , which was once in two months and
hospitalization was required
• Diagnosed to be a case of down syndrome at birth which associated
with
• Ventricular septal defect
• No h/o jaundice
• No h/o epilepsy
• No h/o tuberculosis
 Obstetric score : G1P1L1A0
 Booked and registered in near by PHC
 Attended her regular antenatal visits
 Non consanguineous marriage
 Spontaneous conception
 Pregnancy was confirmed by UPT
 history of morning sickness and nausea.
 No history of hyperemesis gravidarum.
 No history of fever ,rash , radiation ,drug intake.
 Dating scan was done at 8th week.
 NT scan was taken revealed more than 3mm thickness in the posterior nape of
the neck.
 Folic acid intake
 No history of bleeding per vaginum
 Quickening was felt at 18 weeks
 2 doses of tetanus toxoid was taken 1month apart
 Iron,folic acid and calcium tablets were taken
 Anomaly scan was done at 22nd week.
 No h/o of headache ,blurring of vision, pedal edema
 No h/o of polyuria, polydipsia and OGTT was done and was normal
 Appreciated fetal movements well
 Growth scan was done at 30th week.
 No h/o foul smelling discharge per vaginum,burning micturition.
 No h/o cardiac and lung diseases.
 No h/o bleeding per vaginum
 The labor was spontaneous in onset.
 Normal vaginal -full term delivery at 37 weeks.
 No h/o transfusion of blood.
 baby was 2kg at birth
 Cried immediately after birth, passed meconium and urine.
 No history of photo therapy
 Breast fed within half an hour.
 Ventral septal defect was ruled out after the birth through ECHO
 During postnatal period – the baby exclusively breast fed for 6 months, history of
NICU, and hospitalization for respiratory infections
 Evidence of congenital anomalies was found
• DELAYED DEVELOPMENTAL MILESTONES
 at Birth – BCG ,opv , hep B
 and immunized for age
 nuclear family
 No history of down syndrome any other family member.
 No history of tuberculosis , asthma in any other family member
 nuclear family .
 There are 3 members in family. Father of child is head of the family
 and belongs to class 4 according to modified B.G. Prasad scale.
 Per capita income : 2000 INR
 Lives in a pucca house , one room and hall with attached bathroom
 over crowding
 Adequate ventilation and lightening is present
 Drinking water and – bore water
 Washing and other sanitation – municipal water
 No breeding sites of mosquitoes around the house
 No pets in the house
 normal bowel and bladder movement
 Baby poorly fed during episodes of fever
 Normal sleep pattern
 Mixed diet
 The child is friendly and loves music , fond of playing - good attitude . But
lethargic and dull during episodes of fever
3 year old boy , 1st by order well immunized for age , full
term normal vaginal delivery diagnosed to be a known case
of down syndrome at came with complaints of h/o cough
with expectoration - on an off for 1 week, sputum was
associated with profuse , non foul smelling, greyish white
colour and mucous in consistency and h/o nasal discharge –
on and off for 1 week ,non offensive, serous in consistency
and fever for past five days, it was a low grade continuous in
nature and no associated symptoms
 The child was seated on mothers lap during examination.
 Pallor- present
 Icterus- not present
 Cynosis- not present
 Clubbing- not present
 Lymphadenopathy- not present
 Edema- not present
 Temperature- 101.4 deg f( oral )
 Pulse rate-110beats/min regular in rhythm, normal character no radioradial and
radio femoral delay. Peripheral pulses are bilaterally and equally palpable
 Respiratory rate -40/min
 Bp- 90/60mm of hg in right upper limb in supine position
• weight of the baby : 11 kg
• Height of the baby : 86cm
• head circumference : 42 cm
• Chest circumference: 52 cm
• mid arm circumference : 13 cm
• Skin thickness : not taken
HEAD TO TOE EXAMINATION
• Head- brachycephaly , flat occipit
• Hair- sparse
• Face- upward slant of eyes, epicanthic
fold, protrubent tongue, hyper telorism,
flattened nose bridg
• Oral cavity - high arched palate. And
crowded teeth
• Eyes- normal
• Ears- low set ears, anti helix is poorly
formed
• Nose and nasal cavity-flat nasal bridge
• Neck- short neck, neck folds present
• Nails – no clubbing
• Hands- simian crease, brachydactyly
• Spine and back – normal
• Feet- sandal gap
• Genitals- normal
 Shape of chest- elliptical in shape , symmetrical
 Abdominothoracic pattern
 No spinal deformity
 Movement with respiration- equal on both the sides
 Position of Trachea in midline
 Both nipples are at same level
 Apical impulse was not seen
 No scars , sinuses, dilated veins
 All inspection findings were confirmed
 No tenderness , warmth
 Position of trachea – midline
 Chest expansion equal on both the sides
 Apical impulse at 5th intercostal space , lateral to the midclavicular line
LOWER RESPIRATORY TRACT
AREAS RIGHT SIDE LEFT SIDE
Supra clavicular resonant resonant
infraclavicular resonant resonant
Mammarry resonant resonant
infra mammary resonant resonant
Axillary resonant resonant
Infra axillary resonant resonant
Supra scapluar resonant resonant
Inter scapular resonant resonant
Infrascapular resonant resonant
AUSCULTATION
AREAS RIGHT SIDE LEFT SIDE
Supra clavicular resonant resonant
infraclavicular resonant resonant
Mammary resonant resonant
infra mammary resonant resonant
Axillary resonant resonant
Infra axillary resonant resonant
Supra scapular resonant resonant
Inter scapular resonant resonant
Infra scapular resonant resonant
Normal vesicular breath sounds ,heard equally on both sides with no added sounds
ORAL CAVITY:
• Protruded -Fissured Tongue , Halitosis
• Crowded Teeth
• Tonsil Enlarged With No Pus Or Memberane
• Congested Posterior Pharyngeal Wall
EAR – Low Set Ears, Anti Helix Is Poorly Formed And No Other Positive
Finding
NOSE – No Septal Deviation
• CVS –S1, S2 heard, pan systolic murmur heard loudest at lower left
sternal edge.
• ABDOMEN – soft, non tender, no organomegaly
• CNS - +VE findings
• Hypotonic tone in RUL,LUL,RLL,LL
• Hypoactive - deep tendon reflex of biceps ,supinator, triceps, knee
and ankle
• slurred speech and lethargic
SUMMARY
• 3 year old boy , 1st by order well immunized for age , full term normal
vaginal delivery diagnosed to be a known case of down syndrome at
came with complaints of h/o cough with expectoration - on an off for 1
week, sputum was associated with profuse , non foul smelling, greyish
white colour and mucous in consistency and h/o nasal discharge – on and
off for 1 week ,non offensive, serous in consistency and fever for past
five days, it was a low grade continuous in nature and no associated
symptoms
• O/E - pan systolic murmur heard loudest at lower left sternal
edge.Hypotonic tone in RUL,LUL,RLL,LL, Hypoactive - deep tendon reflex
of biceps ,supinator, triceps, knee and ankle slurred speech and lethargic
,examination of oral cavity –fissured tongue ,tonsilar enlargement.
 A known case of DOWN SYNDROME child came with the chief complaints of
 Cough with expectoration for 1 week , Running nose for 1 week ,Fever for 5
days
 Could be a suggestive of
 Acute Respiratory Tract Infection With Adenotonsillits
INVESTIGATIONS - ROUTINE INVESTIGATIONS
• CBC (HB% , PLATELETS, ESR)
• BLOOD GROUING AND COAGULATION PROFILE
• BLOOD SUGAR, UREA, CREATININE
• URINE – ALBUMIN
• ECG
• COVID19 - RTPCR
• C/S - THROATSWAB
• CHEST X RAY
INVESTIGATIONS – SPECIFIC INVESTIGATIONS
TREATMENT
• ORAL ANTIBIOTICS - BASED ON CULTURE SENSTIVITY
• NSAIDS – FEVER
• COUGH SUPPRESANTS
ADVICE
• ON NUTRTION
• ON PERSONAL HYGEINE
• FOLLOW UP FOR HEART DISEASE
REGULAR ANNUAL CHECKUPS :
• EYE EXAMINATION - RE
• AUDIOGRAM , DENTAL EXAMINATION
• THYROIDFUNCTION TEST
• X RAY – CERVICAL SPINE
• PSYCHIATRIC EVALUATION
PREVENTION – SCREENING AND PRENATAL
DIAGNOSIS
Down syndrome case presentation pediatrics
Down syndrome case presentation pediatrics
Down syndrome case presentation pediatrics

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Down syndrome case presentation pediatrics

  • 1. CLINICAL CASE PRESENTATION - S.SHALINI - FINAL YEAR STUDENT
  • 2.
  • 3.
  • 5. PERSONAL DETAILS • NAME : Surya • AGE : 3YEARS • SEX : MALE • ORDER : 1 • MARRIAGE : NON CONSANGUINOUS • ADDRESS :PORUR, CHENNAI , Tamilnadu • INFORMANT : MOTHER, {reliable} • Name : Devi, Age: 35 years old • SES : LOWER MIDDLE CLASS ( ACCORDING TO B.G PRASAD )
  • 6. CHIEF COMPLAINTS • A known case of DOWN SYNDROME child came with the chief complaints of • Cough with expectoration for 1 week • Running nose for 1 week • Fever for 5 days
  • 7. HISTORY OF PPRESENTING ILLNESS The patient was apparently normal before one week the he developed , h/o cough with expectoration - on an off for 1 week , which was sudden in onset , progressive in nature , not associated with any other symptoms, no diurnal variation , no aggravating factor , relived by taking cough syrup. It was associated with profuse , non foul smelling, greyish white colour and mucous in consistency h/o nasal discharge – on and off for 1 week which was sudden in onset , progressive in nature , which is in clear , serous in consistency, non offensive in nature . With no aggravating and reliving factors.
  • 8. HISTORY OF PPRESENTING ILLNESS • H/O of fever – for past fived days , which was sudden in onset , it was a low grade continuous fever, not associated with evening rise in temperature • no h/o poor feeding • No h/o chills and rigor • No h/o noisy breathing or difficulty in breathing • No h/o ear discharge • No h/o loose stools • No h/o rashes • No h/o foreign body aspiration • No h/o weight loss
  • 9. PAST HISTORY • H/o similar episodes in the past , which was once in two months and hospitalization was required • Diagnosed to be a case of down syndrome at birth which associated with • Ventricular septal defect • No h/o jaundice • No h/o epilepsy • No h/o tuberculosis
  • 10.  Obstetric score : G1P1L1A0  Booked and registered in near by PHC  Attended her regular antenatal visits  Non consanguineous marriage  Spontaneous conception
  • 11.  Pregnancy was confirmed by UPT  history of morning sickness and nausea.  No history of hyperemesis gravidarum.  No history of fever ,rash , radiation ,drug intake.  Dating scan was done at 8th week.  NT scan was taken revealed more than 3mm thickness in the posterior nape of the neck.  Folic acid intake  No history of bleeding per vaginum
  • 12.  Quickening was felt at 18 weeks  2 doses of tetanus toxoid was taken 1month apart  Iron,folic acid and calcium tablets were taken  Anomaly scan was done at 22nd week.  No h/o of headache ,blurring of vision, pedal edema  No h/o of polyuria, polydipsia and OGTT was done and was normal
  • 13.  Appreciated fetal movements well  Growth scan was done at 30th week.  No h/o foul smelling discharge per vaginum,burning micturition.  No h/o cardiac and lung diseases.  No h/o bleeding per vaginum
  • 14.  The labor was spontaneous in onset.  Normal vaginal -full term delivery at 37 weeks.  No h/o transfusion of blood.  baby was 2kg at birth  Cried immediately after birth, passed meconium and urine.  No history of photo therapy  Breast fed within half an hour.  Ventral septal defect was ruled out after the birth through ECHO  During postnatal period – the baby exclusively breast fed for 6 months, history of NICU, and hospitalization for respiratory infections  Evidence of congenital anomalies was found
  • 16.  at Birth – BCG ,opv , hep B  and immunized for age
  • 17.
  • 18.  nuclear family  No history of down syndrome any other family member.  No history of tuberculosis , asthma in any other family member
  • 19.  nuclear family .  There are 3 members in family. Father of child is head of the family  and belongs to class 4 according to modified B.G. Prasad scale.  Per capita income : 2000 INR  Lives in a pucca house , one room and hall with attached bathroom  over crowding  Adequate ventilation and lightening is present  Drinking water and – bore water  Washing and other sanitation – municipal water  No breeding sites of mosquitoes around the house  No pets in the house
  • 20.  normal bowel and bladder movement  Baby poorly fed during episodes of fever  Normal sleep pattern  Mixed diet  The child is friendly and loves music , fond of playing - good attitude . But lethargic and dull during episodes of fever
  • 21. 3 year old boy , 1st by order well immunized for age , full term normal vaginal delivery diagnosed to be a known case of down syndrome at came with complaints of h/o cough with expectoration - on an off for 1 week, sputum was associated with profuse , non foul smelling, greyish white colour and mucous in consistency and h/o nasal discharge – on and off for 1 week ,non offensive, serous in consistency and fever for past five days, it was a low grade continuous in nature and no associated symptoms
  • 22.  The child was seated on mothers lap during examination.  Pallor- present  Icterus- not present  Cynosis- not present  Clubbing- not present  Lymphadenopathy- not present  Edema- not present
  • 23.  Temperature- 101.4 deg f( oral )  Pulse rate-110beats/min regular in rhythm, normal character no radioradial and radio femoral delay. Peripheral pulses are bilaterally and equally palpable  Respiratory rate -40/min  Bp- 90/60mm of hg in right upper limb in supine position
  • 24. • weight of the baby : 11 kg • Height of the baby : 86cm • head circumference : 42 cm • Chest circumference: 52 cm • mid arm circumference : 13 cm • Skin thickness : not taken
  • 25. HEAD TO TOE EXAMINATION • Head- brachycephaly , flat occipit • Hair- sparse • Face- upward slant of eyes, epicanthic fold, protrubent tongue, hyper telorism, flattened nose bridg • Oral cavity - high arched palate. And crowded teeth • Eyes- normal • Ears- low set ears, anti helix is poorly formed • Nose and nasal cavity-flat nasal bridge • Neck- short neck, neck folds present • Nails – no clubbing • Hands- simian crease, brachydactyly • Spine and back – normal • Feet- sandal gap • Genitals- normal
  • 26.  Shape of chest- elliptical in shape , symmetrical  Abdominothoracic pattern  No spinal deformity  Movement with respiration- equal on both the sides  Position of Trachea in midline  Both nipples are at same level  Apical impulse was not seen  No scars , sinuses, dilated veins
  • 27.  All inspection findings were confirmed  No tenderness , warmth  Position of trachea – midline  Chest expansion equal on both the sides  Apical impulse at 5th intercostal space , lateral to the midclavicular line LOWER RESPIRATORY TRACT
  • 28. AREAS RIGHT SIDE LEFT SIDE Supra clavicular resonant resonant infraclavicular resonant resonant Mammarry resonant resonant infra mammary resonant resonant Axillary resonant resonant Infra axillary resonant resonant Supra scapluar resonant resonant Inter scapular resonant resonant Infrascapular resonant resonant
  • 29. AUSCULTATION AREAS RIGHT SIDE LEFT SIDE Supra clavicular resonant resonant infraclavicular resonant resonant Mammary resonant resonant infra mammary resonant resonant Axillary resonant resonant Infra axillary resonant resonant Supra scapular resonant resonant Inter scapular resonant resonant Infra scapular resonant resonant Normal vesicular breath sounds ,heard equally on both sides with no added sounds
  • 30. ORAL CAVITY: • Protruded -Fissured Tongue , Halitosis • Crowded Teeth • Tonsil Enlarged With No Pus Or Memberane • Congested Posterior Pharyngeal Wall EAR – Low Set Ears, Anti Helix Is Poorly Formed And No Other Positive Finding NOSE – No Septal Deviation
  • 31. • CVS –S1, S2 heard, pan systolic murmur heard loudest at lower left sternal edge. • ABDOMEN – soft, non tender, no organomegaly • CNS - +VE findings • Hypotonic tone in RUL,LUL,RLL,LL • Hypoactive - deep tendon reflex of biceps ,supinator, triceps, knee and ankle • slurred speech and lethargic
  • 32. SUMMARY • 3 year old boy , 1st by order well immunized for age , full term normal vaginal delivery diagnosed to be a known case of down syndrome at came with complaints of h/o cough with expectoration - on an off for 1 week, sputum was associated with profuse , non foul smelling, greyish white colour and mucous in consistency and h/o nasal discharge – on and off for 1 week ,non offensive, serous in consistency and fever for past five days, it was a low grade continuous in nature and no associated symptoms • O/E - pan systolic murmur heard loudest at lower left sternal edge.Hypotonic tone in RUL,LUL,RLL,LL, Hypoactive - deep tendon reflex of biceps ,supinator, triceps, knee and ankle slurred speech and lethargic ,examination of oral cavity –fissured tongue ,tonsilar enlargement.
  • 33.  A known case of DOWN SYNDROME child came with the chief complaints of  Cough with expectoration for 1 week , Running nose for 1 week ,Fever for 5 days  Could be a suggestive of  Acute Respiratory Tract Infection With Adenotonsillits
  • 34. INVESTIGATIONS - ROUTINE INVESTIGATIONS • CBC (HB% , PLATELETS, ESR) • BLOOD GROUING AND COAGULATION PROFILE • BLOOD SUGAR, UREA, CREATININE • URINE – ALBUMIN • ECG • COVID19 - RTPCR
  • 35. • C/S - THROATSWAB • CHEST X RAY INVESTIGATIONS – SPECIFIC INVESTIGATIONS
  • 36. TREATMENT • ORAL ANTIBIOTICS - BASED ON CULTURE SENSTIVITY • NSAIDS – FEVER • COUGH SUPPRESANTS
  • 37. ADVICE • ON NUTRTION • ON PERSONAL HYGEINE • FOLLOW UP FOR HEART DISEASE REGULAR ANNUAL CHECKUPS : • EYE EXAMINATION - RE • AUDIOGRAM , DENTAL EXAMINATION • THYROIDFUNCTION TEST • X RAY – CERVICAL SPINE • PSYCHIATRIC EVALUATION
  • 38. PREVENTION – SCREENING AND PRENATAL DIAGNOSIS