Cheminal R, Echenne B, Bellet H, Duran M
Service de Neuropédiatrie, Hôpital Gui de Chauliac, Montpellier, France.
J Inherit Metab Dis. 1996;19(1):25-30. doi: 10.1007/BF01799345.
Six of nine children born from first-cousin parents presented with the same clinical picture: non-progressive congenital encephalopathy with marked hypertonia resembling the stiff-baby syndrome, delayed milestones, mental deficiency and congenital deafness. Rare, usually reversible, episodes of sudden worsening of the neurological status, with progressive loss of consciousness and increase of hypertonia, occurred spontaneously or during febrile illnesses. During these periods, and sometimes on other occasions, transitory renal dysfunction was observed (nephrotic syndrome and/or tubular abnormalities). Death occurred before age 2 years in 4 patients; 2 are still alive (10 and 13 years old). Electrophysiological, biological and enzymatic investigations remained negative, particularly those concerning mitochondrial and peroxisomal metabolism. The only biochemical anomaly was a massive hyperkynureninuria, seen only during the periods of coma (up to 213 mumol/mmol creatinine; normal < 10) and after an intravenous protein loading test. This suggests an anomaly of tryptophan metabolism which has not been reported up to now.
在九名近亲结婚父母所生的孩子中，有六名表现出相同的临床症状：非进行性先天性脑病，伴有明显的张力亢进，类似僵人综合征，发育迟缓，智力缺陷和先天性耳聋。神经系统状况偶尔会突然恶化，通常是可逆的，表现为意识逐渐丧失和张力亢进加重，可自发出现或在发热性疾病期间发生。在此期间，有时在其他情况下，还观察到短暂的肾功能障碍（肾病综合征和/或肾小管异常）。4例患者在2岁前死亡；2例仍然存活（分别为10岁和13岁）。电生理、生物学和酶学检查均无异常，特别是线粒体和过氧化物酶体代谢相关检查。唯一的生化异常是大量的高犬尿氨酸尿症，仅在昏迷期间（高达213μmol/mmol肌酐；正常<10）以及静脉注射蛋白质负荷试验后出现。这提示了一种迄今为止尚未报道的色氨酸代谢异常。
