A 13 YEAR OLD BOY WITH YELLOWISH DISCOLORATION
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This is a case of a 13 year old boy who came to OPD with the chief complaints of-
Yellowish discoloration of the eyes since 9 days.
Yellow coloured urine since 9 days.
Patient history :
Youngest child
Normal vaginal delivery
Birth weight: 4.5 kg
At birth:
Patient had jaundice and it resolved spontaneously (physiological jaundice).
Immunised as per schedule.
At 8 months:
He had altered bowel habits - loose stools for a week and another week he had normal consistency stools, later he had loose stools every day for 2-3 months during which he became cachectic.
He got admitted in hospital and they mentioned as suspected case of celiac disease,chronic diarrhoea,chronic malabsorption.
He was treated with IV antibiotics and 2FFP transfusions.
He recovered within 3 months.
He also had recurrent attacks of cold,cough and fever.He used inhalers for 1 year.
No h/o pneumonia.
At 9 years:
Parents noticed neck swelling and took him to ent doctor, who then further referred him to an endocrinologist and then diagnosed with hypothyroidism .(Initial TSH levels-150)
He was started with THYRONORM 150mcg later increased to 180mcg
He also had chronic itching over hands and foot since the age of 9 years
At 12 years
He had chickenpox and resolved within 10 days
At 13years (Now)
He came with complaints of yellowish discoloration of eyes ,dark yellow colored urine since 9 days . Also had one episode of greenish yellow coloured vomiting which was non projectile, non foul smelling and contained bile, food particles.
No history of fever,chills,abdominal pain,loose stools, cold ,cough, joint pains.
He was treated by a paediatrician for jaundice but as bilirubin is increasing they referred here for further management.
Daily routine of patient:
Patient stays in the hostel, gets up at 5:30 am, takes tab. THYRONORM empty stomach before brushing his teeth, takes his breakfast, goes to school at 9am takes his lunch at 12 noon, dinner at 7:30 pm, sleeps at 9 pm, uses lotion for allergy both in the morning and before going to bed.
FAMILY HISTORY
He is a 4th order child ,born out of grade 4 consanguinous marriage
He has 2 elder brothers and
one elder sister - who expired at 5 years of age
His sister was the first child and she was asymptomatic till 2 years of age ,then she had shortness of breath and was rushed to hospital,where her condition deteriorated and got admitted .They were told that she had splenomegaly and her blood counts were decreasing . She was given multiple blood transfusions every 25 days for an year inspite of that, she remained anemic. She also underwent bone marrow biopsy twice.
According to parents she was given steroids also for one year before death .she never had jaundice or recurrent infection
His elder brother is 19 years old and second brother is 16 years old
Second one had history of fever ,white coloured loose stools at the age of 5 years for which they went to nalgonda hospital .He was given some medications and it got resolved .But he was said to have anemia ,and he recovered according to parents with some medications.There was no jaundice and no history of blood transfusions.
H/o scabies in the family 2 years ago,
His second brother got affected first after which it spread to the patient, then his grandmother and then to his mother. They detected scabies in his mother, then rest of family members were diagnosed to have scabies for which they got treated.
PERSONAL HISTORY
Diet:mixed
Appetite:normal
Sleep:normal
Bowel and bladder movements:regular
No addictions
TREATMENT HISTORY
Dexamethasone valerate skin cream
Dermadew lotion
GENERAL EXAMINATION
Patient is conscious, coherent and cooperative well oriented to time place and person.
Built - thin
Height- 156cm Weight- 32kg
BMI-13.15 kg/m2 (severely underweight)
Pallor - present
Icterus - present
Cyanosis, Clubbing, Lymphadenopathy, oedema - Absent
VITALS-
Temp : afebrile(98.6°F)
PR :90bpm
RR :22cpm
BP :120/70mmhg
SYSTEMIC EXAMINATION
CVS : S1,S2 heard. Shift in apex beat to 4th ics
RS : BAE+ NVBS heard
CNS : NFND
P/A : Moderate splenomegaly palpable upto the left lumbar region
INVESTIGATIONS:
Blood grouping: B+ve
Complete blood picture:
6/1/22
Hb - Decreased
TLC- decreased
Eosinophils - slight increase
PCV- reduced
RBC- reduced
RDW-CV - increased
9/1/22
Improved from the date of admission
Eosinophil count - normal
Peripheral smear:
Normocytic normochromic blood picture with few microcytes, tear drop cells, pencil forms
Leucopenia.
Hb electrophoresis: normal
Ultrasonography: splenomegaly
Thyroid profile:
T3 : 61ng/dl
T4 : 8.66ng/dl
TSH : 91.85mIU/l
Anti TPO antibodies- 77.1
Coombs test :
Direct coombs test : positive
Indirect coombs test : negative
Coagulation profile :
BT, CT, aPTT, PT - normal.
Liver function tests :
6/1/22
Total bilirubin - 6.49
Direct bilirubin - 0.52
AST (SGOT) - 19
ALT (SGPT) - 10
ALP - 274
Total Protein - 5.5
Albumin - 3.8
9/1/22
Total bilirubin- high
Direct bilirubin- slightly high
Indirect bilirubin- very high
PROVISIONAL DIAGNOSIS:
SPECTRUM OF AUTOIMMUNE DISEASES-
AUTOIMMUNE THYROIDITIS.
AUTOIMMUNE HEMOLYTIC ANEMIA
CVID?
TREATMENT:
TAB.METHYLPREDNISOLONE 32mg PO/OD
TAB.THYRONORM 200micrograms PO/OD
PHYSIOGEL LOTION
TAB. ATARAX 10mg
Monitor vitals for every 4hrs.
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