Lipemia retinalis in an infant.

A two-month-old male infant presented with increased frequency of stools. Birth and development history were normal. General physical examination revealed hepatomegaly, mild splenomegaly, and loss of subcutaneous fat over the glutei. Fundus examination showed white retinal vessels in both eyes, typical of lipemia retinalis [Fig. 1a and b].[12] Family history was unremarkable. Laboratory studies showed markedly elevated serum triglycerides (17,000 mg/dl), total cholesterol (858 mg/dl), low high-density lipoprotein (8.7mg/dl) with normal amylase and lipase. A possible diagnosis of type V hyperlipoproteinemia was kept. Fundus changes reversed in four weeks with addition of medium chain triglycerides to the feeds [Fig. 1c and d].

Figure 1

Fundus examination (Retcam; Clarity MSI, Pleasanton, Calif) of the right and left eyes showing whitish appearance of retinal vessels (black arrow), suggestive of lipemia retinalis (a and b). Normal appearance of retinal vessels (white arrow) are noted following decrease in serum triglyceride level after 4 weeks (c and d)

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