Paine症候群の2同胞例

PAINE'S SYNDROME (SEX-LINKED MICROCEPHALY, SPASTIC DIPLEGIA AND GENERALIZED AMINOACIDURIA) IN TWO SIBLINGS

緒言

　1960年Paineは新しい先天性代謝異常症として，伴性劣性遺伝性と考えられる小頭症の症例を報告した^1）。その主症状は，知能障害，痙性麻痺，てんかん，アミノ酸尿等であつた。その後Menkes^2），吉田ら^3）4）により同様の症例が報告されており，最近ではPaine症候群とも称されている^5）。

　本症はまだ3家系の報告しかみられず，極めて稀な小頭症の一型と考えられる。

The siblings were boys aged 4 years 8 months and 13 months, born to consanguinous Japanese parents. Both cases had microcephaly, spastic diplegia, mental retardation, convulsions, multiple anomalies and generalized amino-aciduria, and both had congenital heart disease, high arched palates, irregular dental arches, arthrogryposis and abnormal deramatoglyphics.

Their basic EEG patterns consisted entirely of fast wave dysrhythmia, with bilateral atypical spike-and-wave complexes which showed photosensi-tivity.

None of the other 118 members of 6 generations of this family were found to have this syndrome.