Dr Adeena D S, DrPraveena , Dr C Jayakumar
Dept of Pediatrics,
Amrita Institute of Medical Sciences.
Fourteen year old boy brought to ER with complaints of abdominal pain and vomiting of 5 days and low grade fever of 2 days duration.USG abdomen showed cholelithiasis and cholecystitis.Hence he was referred here.No history of rashes,bleeding manifestations,progressive pallor,hematuria,seizures
He was the only child,born of a NCM.H/o recurrent intermittent episodes of yellowish discolouration of sclera skin and high colored urine, noted since early infancy,aggravated fever,dehydration and respiratory tract infections.These episodes would resolve spontaneously once the stressor is settled.
No history of hospitalisations.
Similar history in mother -who expired few years ago due to ?TB and for maternal uncle.Both were not evaluated.
O/E
afebrile
Icterus++
No pallor/cyanois/clubbing/lymphadenopathy/edema
No rashes /bleeding
P/a – soft, splenomegaly of 4 cm in LCM
Labs- neutrophilic leucocytosis, CRP 4mg/dl
Hb 12g/dl, indices normal, platelet normal
LFT showed TSB- 8.6 [DSB0.9] and transminitis [OT/PT- 104/221]
Hemolysis workup:
LDH 297(Mild increase)
Retic count 4
DCT negative
PS: NCNC RBC with few sphaerocytes and polychromatophils.
He was discharged at request with oral antibiotics and supportives, advised to repeat USG in a week time.
The differentials considered were Gilberts syndrome and Hereditary sphaerocytosis(HS).
On review-counts improved, TSB-4 with improvement in transaminitis.
Repeat peripheral smear send after symptom resolution- NCNC blood picture with 10% sphaerocytes ,polychromasia and reactive lymphocytes.
Repeat Usg abdomen done at AIMS showed hepatosplenomegaly,cholelithiasis with no features of cholecystitis.
Eosin- maiemide test (EMA )test was done and was positive, mean fluoroscence intensity decrease in the patient was 49%(>21% is diagnostic of HS).Hence he was diagnosed as Hereditary sphaerocytosis and started on folic acid.
Hereditary sphaerocytosis is the most common cause of hemolytic anemia.Its due to a membrane defect due to defective genes coding for spectrin/ankyrin/band 3/ band 4.2.
They can present at any age and with any severity (hydrops fetalis in utero to the 9th decade)
A family history is often present.
Based on severity of anemia:
*HS trait -normal Hb, bilirubin ,retic count
*mild HS
*moderate HS
*Severe HS
Complications of hemolysis- neonatal jaundice, splenomegaly,pigment gallstones.
EMA is the confirmatory test.There is no specific treatment.growth has to be monitored,folic acid supplementation to meet increased demands in RBC production.Others- Blood transfusions,EPO, Splenectomy +/- cholecystectomy
It is important to give vaccine against Strep pneumo and 8weeks later polysaccharide pneumo to children more than 2 years or when they reach 2 years ,Hinfluenzae type B and Meningococci