Bode H, Urbanek R, Henglein D, Niederhoff H
Universitätskinderklinik, Freiburg i. Br., BRD.
Helv Paediatr Acta. 1987 Jun;42(5-6):463-9.
A case of a now 10-month-old female infant is reported, who presented at birth with microcephalus, growth retardation, dystrophia, facial dysplasia and cardiac defect. Etiologically a classical phenylketonuria of the mother with very high levels of serum phenylalanine (51 and 41 mg/dl, respectively), which was not known until then, was diagnosed already after her confinement. The mother, aged 26, originates from Roumania. She had never been treated by any phenylalanine-limited diet. Psychological testing revealed a severely reduced intelligence (IQ = 63). The child, having normal levels of serum phenylalanine, presented with mild statomotor retardation at the age of ten months. Even in countries with a general neonatal screening program, a hitherto undiagnosed maternal phenylketonuria has to be considered within the differential diagnosis of a dystrophic microcephalic newborn, beside more common causes like the fetal alcohol syndrome.
报告了一例现10个月大的女婴病例，该女婴出生时患有小头畸形、生长发育迟缓、营养不良、面部发育异常和心脏缺陷。病因上，母亲患有典型的苯丙酮尿症，血清苯丙氨酸水平非常高（分别为51和41mg/dl），直到产后才被诊断出来，在此之前并不知晓。母亲26岁，来自罗马尼亚。她从未接受过任何苯丙氨酸限制饮食治疗。心理测试显示其智力严重低下（智商=63）。该患儿血清苯丙氨酸水平正常，10个月大时出现轻度运动发育迟缓。即使在有普遍新生儿筛查项目的国家，除了胎儿酒精综合征等更常见的原因外，在对营养不良性小头畸形新生儿进行鉴别诊断时，也必须考虑到迄今未被诊断出的母体苯丙酮尿症。
