#Case:

A five-month old male infant, was brought for consultation to the emergency unit presenting with continuous cries and no fever since 24 hours. His parents noticed swellings of the dorsal region of his right hand, and of his two last toes of the right foot since 48hours. Mobility in the affected areas was reduced.

The infant is the third child and only surviving child of the couple. The other two siblings reportedly died at 2 and 4 years in contexts of fever and acute sickness. The parents report swellings in these siblings as well. The couple has been living together for years but had never followed up their pregnancies nor treated their children in a health centre till now.

On physical exam, the infant is pale. He has stable vitals and normal growth parameters for age. Tenderness and warmth in the swollen limbs(right wrist and last 2 toes of right foot), and palmoplantar palour. There were no other abnormalities seen on physical examination.

STOP, READ OVER AND DIAGNOSE….

Our working diagnosis (dg) was Vaso-occlusive crises on a probable hemoglobinopathy, likely sickle cell disease.

As differential, possible unnoticed trauma or assault but the palour yet stable vitals did not seem to fit well. Also, thought of an early onset of a systemic disease. Septic arthritis was a differential but the presence of normal temperature all through and acute multifocal swellings seemed not in favour.

Work-ups:

For Dg and terrain: Hemoglobin electrophoresis
For repercussions: Full blood count(FBC) and blood smear, C-Reactive Protein(CRP), Erythrocyte Sedimentation Rate (ESR).

Work-ups to check for precipitating factor: Thick Blood smear for malaria, and urine dipstick.

The patient was managed by hospitalizing, IV hydration after anemia assessment, analgesics, then counseling to parents and placement on folic acid when Hb electrophoresis was confirmed as HbSS.

Presented by Dr.W.E.

Translated and compiled by Medinnovint team.