A case of galactosialidosis discovered with external strabismus and cherry red spots in late infancy.

スポンサーリンク

概要

• 論文の詳細を見る

• A case of galactosialidosis was reported. The patient was a boy, 3 years 5 months of age, referred for evaluation of cherry-red spots. No consanguinity was found in the family history. His growth and development were almost normal. He was operated on for bilateral inguinal hernia at the age of 4 months. At the age of 3 years, he was brought to our hospital because of strabismus and was noted to have cherry-red spots. On admission, physical examination revealed slightly coarse features with saddle nose, divergent strabismus, funnel chest and kyphoscoliosis of the lumbosacral region. Neurologically, no abnormal findings was noted, except for slight hypotonia and wide based gait. Laboratory examination revealed vacuoles of lymphocytes in the peripheral blood and bone marrow. Roentgenograms of the thoracolumbar spine showed kyphoscoliosis with anterior beaking of the vertebral bodies of lower thoracic region. The activities of neuraminidase and β-galactosidase were markedly reduced in the white blood cells and cultured skin fibroblasts, and were normal values in his parents. The reduced activities of neuraminidase and, β-galactosidase in the patient's cultured skin fibroblasts were corrected by culturing with concentrated extracts from the medium of normal cultured skin fibroblasts. From the analysis of immunoprecipitation and SDS polyacrylamide gel electrophoresis by using the anti β-galactosidase antibody, a 32-kilodalton glycoprotein was found to be deficient in cultured skin fibroblasts.

• 一般社団法人 日本小児神経学会の論文

一般社団法人 日本小児神経学会 | 論文

• Levetiracetamが著効したSTXBP1遺伝子変異による大田原症候群の1例
• Cyclophosphamideが著効した抗NMDA受容体抗体脳炎の8歳男児例
• 重症心身障害医療からみた小児脳死に関する私見
• 幼児期発症の難治な多発性硬化症に対しcyclophosphamideパルス療法が有効であった1例
• Duchenne型筋ジストロフィー児への病気の説明に関する調査

もっと見る

スポンサーリンク