Dr.MONISHA MOHAN
4month old male child presented with 3day h/o high grade continuous fever with cough, cold and h/o poor feeding with decreased activity for the same duration. He had one episode of seizure lasting for 5 minutes, following which child developed difficulty in breathing.
He was the third child born of a second degree consanguineous marriage. Antenatal history was unremarkable. The child wasn’t immunised.
On examination the child was afebrile with a low volume pulse of 128/min, BP 40/26 mm of Hg(35 th centile) and respiratory rate of 16/min. SpO2 was 92% in room air. Rest of the systemic examination was normal.
Venous blood showed a lipemic serum sample and the S. Triglycerides: > 2000mg/dL; S. TC: >1000mg/dL and glucose> 1000 mg/dL.
Fundus examination in both the eyes showed clear media with diffusely pale creamy white retina. Disc and blood vessels were creamy white in color and macula was unremarkable.
A diagnosis of congenital hypercholesterolemia with septic shock was made.
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