Case Presentation

CASE PRESENTATION
THALASSEMIA
DEMOGRAPHIC DETAILS
• Name-Ms. ABC
• Age-12 years (6th standard)
• Sex –female
• Address- Vidyanagar, Hubli
• Religion- Hindu
• Informant – Mrs, XYZ (information is reliant and consistent)
• Date of admission-19/02/2020
• Date of examination-21/02/2020
CHIEF COMPLAINTS
• Easy fatigability since 7 days
• Increased Pallor since 5 days.
HISTORY OF CHIEF COMPLAINTS
• Patient is a known case of haematological disorder came for regular
transfusion with complaints of Easy fatigability on doing the daily
activities which is relieved on taking rest. This is not associated With
any other Complaints
• Patient’s mother noticed pallor since 5 days which is insidious onset
and progressive to present stage in Eyes and skin of patient
• No history of yellowish discoloration of skin ,yellow colored urine,
Hematuria
• No history easy bruising, bleeding gums
• No history of pain in legs , abdominal pain, headache, convulsions
• No history of worms in stool
• No history of bone pain , weight loss
• No history of blood loss in stool, in vomitus
• No history of abdominal pain , passing worms in stools or vomitus
• No history pica
• No history of diarrhoea or constipation
• No history of fever with chills and rigors, dark colored urine
• No history of oliguria or anuria
• No history of dyspnoea, tachypnoea, palpitations.
PAST HISTORY
• Known case of haematological disorder diagnosed at the age of 6
months when child presented with fever ,loose stools, irritability and
decreased frequency of Micturition for 4 days
• History of blood transfusion Started At 6th month once in 3 months
for the first 2 years ,then it is given once a month, last blood
transfusion was given 3 months back
• Total number of transfusion-109
• No history TB, chronic UTI ,Jaundice
• No history of previous surgery
TREATMENT HISTORY
• On tablet Defarasirox,started since 5 years of age,40mg/kg/day
• Not on any other drugs.
BIRTH HISTORY
Antenatal history
• Booked case uneventful
• Anomaly scan was done
• Iron folic acid tablet taken
• No history of fever with rashes
• No history of antepartum haemorrhage
• No exposure to radiation
• No history of multiple pregnancy.
• Inter pregnancy interval – 4 years
Natal history
• Cesarean section at KIMS At 10 months 16 days
• Birth weight-3.5kg Cried immediately after birth
• No history of admission to NICU
• No history from bleeding from cord
• Breast feeding started within an hour after birth
Postnatal history
• No history of neonatal jaundice
• Exclusively breastfed for 6months and continued for 1year
• Supplementary food was given after 6 months
Developmental history
• Developmental milestones achieved regularly
• Good scholastic performance
Immunization history
• Immunized upto 5 years of age [hepatitis B ,pentavalent were given]
NUTRITIONAL HISTORY
• Morning -2 idli + sambar – 300k cal ,5gm
• 1 glass of milk – 110 k cal , 3g
• After noon- 1 chapati +2 bowl rice+sambar-530kcal,10g
• Evening- 1 cup tea- 80k cal ,2g
• Dinner -1chapati+1bowl rice+sambar -360k cal, 6g Total- 1380k cal
,26g
• Required – 1900 k cal ,32 Deficient- 520 k cal ,6g Percentage – 27%in
calories，18% in protein
• Tea was given with meals
PERSONAL HISTORY
• Diet- mixed
• Appetite- normal
• Sleep- sound
• Bowel and bladder- normal and regular
• Patient denied any having habbits
FAMILY HISTORY
• 2nd degree consanguineous marriage
• Married life -15 years 12years
• No history of similar illness in other family members

• No history of surgeries in family
members[splenectomy,cholecystectomy]
SOCIOECONOMIC STATUS
• Father farmer studied till SSLC
• Belongs to upper lower class according to kuppuswamy classification
.
• Lives in a Kucha house with overcrowding and with good ventilation.
• No open defication , drink filtered water.
SUMMARY
• Here is a 12 year old female child who is born to a 2nd degree
consanguineous marriage belonging to upper lower socioeconomic
status who consumes a diet of 27% deficient in calories and 18%
deficient in protein who is immunized upto date with normal
developmental milestones and with past history of Known case of
haematological disorder came with complaints of Easy fatigability
since 1 week and progressive pallor since 5 days.
GENERAL PHYSICAL EXAMINATION
• Here is a 12 years old female child conscious cooperative and well
Oriented to time place and person
• Examined in supine position
Vital signs
• Pulse -98beats per minute, in right radial artery, good volume ,non
collapsing, no radioradial , no radio femoral delay
• Respiratory rate-22 breaths per minute
• Blood pressure-106/82mm Hg , measured in right brachial artery in
sitting position
• Temperature- 98° F , measured in axilla
HEAD TO TOE EXAMINATION
• Hair –normal
• Frontal bossing- present
• Parietal bossing-present
• Malar prominence- present
• Eye- pallor is present
• Nose- flat nasal bridge
• Teeth –normal
• Oral cavity- Good Hygiene no features of anaemia
• Nails – normal
• Skin – pallor, no hyper pigmentation or petechiae
• Upper Limb – Normal
• Eye – Normal, no microcornea
• Tongue - Normal
• Lower Limb – Normal, no leg ulcer
• Chest ,Spine and back normal
• No icterus, cyanosis, clubbing, lymphadenopathy
• External genitals normal
• Tanner grade-stage 2
ANTHROPEMETRY
CENTILES
142 CMS Within 90th centile

HEIGHT
40KGs Within 50th Centile

WEIGHT
SYSTEMIC EXAMINATION
Per Abdomen examination
INSPECTION
• Abdomen is distended on left hypochondrium
• Umbilicus central and everted
• Corresponding quadrants move equally with respiration
• Dilated veins Present ,no scars
• Hernial orifices normal.
PALPATION
• No local rise of temperate,no tenderness
• Deep palpation Mass in right hypochondrim moves with respiration
,firm in consistency smooth surface, sharp boarder, 3cm below right
costal margins suggestive of liver
• A mass in left hypochondrim moves with respiration,non tender ,firm
in consistency,smooth surface sharp boarder of 8cm below costal
margin suggestive of spleen splenic notch appreciated
PERCUSSION
• Liver span – 14 cm
• No free fluids
AUSCULTATION
• Bowel sounds heard
OTHER SYSTEMS
• CVS- No raised JVP, S1 S2 heard no murmur
• RS – Normal vesicular breath sounds heard Bilateral equal air entry

no added sounds
• CNS - Higher mental function normal no sensory or motor deficit

DIAGNOSIS
• Case of haemolytic anaemia probably Thalassemia major
undertransfused well chelated, not in heart failure.
THANK YOU

Case Presentation - Thalassemia-2

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• No history of similar illness in other family members

142 CMS Within 90th centile

40KGs Within 50th Centile

• RS – Normal vesicular breath sounds heard Bilateral equal air entry

• CNS - Higher mental function normal no sensory or motor deficit

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