A case of 13 year old
A 13 year old male child, studying in grade 7 at a school in Miryalguda was brought to the Medicine OPD (on 6/01/2022) with complaints of:
• Yellowish discolouration of eyes since 9 days
• Yellow colored urine since 9 days.
HISTORY OF PRESENT ILLNESS:
The patient was apparently asymptomatic as a newborn - healthy term baby, cried immediately after vaginal delivery.
He had physiological jaundice that resolved spontaneously.
He is immunized as per schedule.
At 8 months of age: he developed altered bowel habits - 1 week of passage of loose stools followed by 1 week of passing normal stools.
Later he continued to pass loose stools for 2-3 months and became cachetic.
He was taken to the hospital where he was given IV antibiotics and 2 FFP transfusions.
He recovered in about 3 months time and according to hospital discharge summary, he was suspected to be suffering from :
• Celiac disease
• Chronic diarrhea
• Chronic Malabsorption
On further inquiry, the parents said that he used to have recurrent cold, coughs and fever. He also has used inhalers - during winters - for 1 year.
He wasn't admitted to a hospital at any point.
There is no history of Pneumonia.
At 9 years of age : parents noticed a swelling in the neck and took him to an ENT doctor. From tere he was referred to an endocrinologist where he was diagnosed with Hypothyroidism.
Medication used - Thyronorm - initially 150 mcg, later increased to 180mcg, everyday.
There is history of chronic itching over palms and foot since 9 years of age - Dermatologist prescribed medications for dry skin.
At 12 years of age : he had Chicken pox that resolved in about 10 days time.
Now , at 13 years of age : he was brought with complaints of:
• Yellowish discolouration of eyes since 9 days
• One episode of bilious vomiting in the morning.
• Yellow colored urine since 9 days.
No cold/cough
No fever
No pain abdomen
No loose stools/ clay colored stools
No history of small joint pains
He was treated by a local pediatrician, but because of constant rise in bilirubin levels he was referred here for further treatment.
HISTORY OF PAST ILLNESS:
• There is no history of similar complaints in the past.
• He is on regular medication for Hypothyroidism for past 5 years.
• He is not a known case of DM, HTN, ASTHAMA,TB, EPILEPSY.
• No history of surgeries in the past
FAMILY HISTORY:
He is a 4th order child ,born out of grade 4 consanguinous marriage.
He had one elder sister - who expired at 5 years of age.
He has 2 elders brothers.
His sister was the first child.
She was asymoptomatic till 2 years of age ,then she developed shortness of breath and was rushed to hospital,where here condition detiorated and had to be admitted.
She was diagnosed to have splenomegaly and her blood counts were decreasing.
She was given multiple blood transfusions, every 25 days,for one year- but remained anemic.
She also underwent bone marrow biopsy twice .
According to parents she was given steriods for one year before her death.
She never had jaundice or recurrent infections.
Eldest brother is 19 year old and second brother is 16.
Second brother had history of fever and white coloured loose stools at the age of 5 years , for which he was taken to the Nalgonda hospital.
He recovered on medication.
He was also diagnosed with anemia from which he recovered with some medications.
No history of Jaundice in this brother.
GENERAL EXAMINATION:
Consent of the patient taken.
The patient is conscious,coherent and cooperative; well oriented to time,place and person.
He is sitting comfortably on the bed.
He is lean build and moderately nourished.
• Height - 156cm
• Weight - 32kgs
• Pallor- present
• Icterus - present
• Clubbing - absent
• Cyanosis - absent
• Lymphadenopathy - absent
• Edema - absent
He has scars from his recent Chickenpox infection on limbs and trunk.
• Temperature - Afebrile.
• Pulse rate - 78/minute
• Respiratory rate - 20/minute
• Blood pressure (left arm) - 120/70 mm of Hg.
SYSTEMIC EXAMINATION:
CVS: S1 and S2 heard. No addded thrills or murmurs heard
RESPIRATORY SYSTEM:
Normal vesicular breath sounds heard.
No dyspnoea.
ABDOMEN:
Soft and non-tender.
There is slight splenomegaly felt on palpation.
CNS:
Conscious and coherent.
Normal sensory and motor responses.
INVESTIGATIONS:
Investigations ordered are : ECG, Hemogram, Bleeding and clotting time, prothrombin time, APTT, Urine analysis, Serology, USG - Abdomen.
ECG :
• There is significant drop in hemoglobin- from 8.9 to recent Hb -5 units.
• Leucopenia.
• Raised bilirubin - both direct and indirect.
HEMOGLOBIN ELECTROPHORESIS:
BLEEDING TIME AND CLOTTING TIME:
PROTHROMBIN TIME:
• Salts and bile pigments- positive.
SEROLOGY:
Negative for HIV, HCV, HbsAg, Dengue, Malaria and Typhoid.
USG ABDOMEN:
Splenomegaly seen.
PROVISIONAL DIAGNOSIS;
• Thyroditis
• Spectrum of Autoimmune diseases.
• Autoimmune Hemolytic Anemia.
• Chronic itching of both hands and limbs - suggests CVID (common variable immunodeficiency).
TREATMENT:
• Tab. Thyronorm - 200mg PO OD.
• Tab. Methylprednisolone - 32mg PO OD.
• Tab. Atarax - 10mg PO OD.
• Physiogel lotion - local application BD.
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