原発性高カイロミクロン血症を伴うⅠ型高脂血症による小児網膜脂血症

Lipemia retinalis in a child with primary hyperchylomicronemia and type Ⅰ hyperlipoproteinemia

要約　目的：原発性高カイロミクロン血症に伴うⅠ型高脂血症による小児網膜脂血症の報告。症例：6歳女児が肝脾腫を契機として代謝性疾患が疑われ，眼科を受診した。成長と発達に異常はなく，両親の近親婚はなかった。所見：矯正視力は両眼とも1.2で，網膜の動静脈が淡紅色を呈し，網膜脂血症と診断した。Goldmann視野と網膜電図に異常はなかった。血清トリグリセリドが高値であり，総コレステロールは正常値，リポ蛋白電気泳動でカイロミクロンの上昇があり，超低比重リポ蛋白の上昇はなかった。以上からⅠ型高脂血症と診断した。以後3年にわたり脂肪の摂取を制限しているが，眼底所見に変化はない。結論：Ⅰ型高脂血症の本症例では，小児期から食事療法を行っても網膜脂血症が改善しなかった。

Abstract.　Purpose：To report a case of lipemia retinalis secondary to primary hyperchylomicronemia and type Ⅰ hyperlipoproteinemia. Case：A 6-year-old girl was suspected of metabolic disorders after detection of hypertrophic liver and spleen. She was normal regarding general status and development. Her parents were not consanguineous. Findings：Corrected visual acuity was 1.2 in either eye. Both eyes showed pink to orange color of retinal vessels compatible with the diagnosis of lipemia retinalis. No abnormality was present regarding Goldmann perimetry and electroretinogram. The serum showed elevated value of triglyceride and normal value of total cholesterol. Serum lipoprotein electrophoresis showed increased chylomicrons and normal level of very low density lipoprotein. The findings led to the diagnosis of type Ⅰ hyperlipoproteinemia. She has been treated by restriction of intake of food containing lipids. There has been no change in fundus appearance during 3 years of treatment. Conclusion：This case illustrates that lipemia retinalis in childhood may persist after dietary treatment for 3 years.