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作者报道了三例小儿(男2例,女1例)原发性肾性尿崩症合并大面积的脑内钙化。据作者所知,该类病例尚无报道。 患者足月女婴,家族史无特殊。前1/2～3个月发育正常。6个月开始反复高渗性脱水,随后出现营养不良,神经发育迟缓,弥漫性运动失调及行动笨拙。4岁时智商(IQ)为40～45,并出现癫痫发作,CT检查为脑额叶白质内对称性钙化。该女孩8.8岁时死于败血症并严重电解质紊乱。尸检见播散性脑皮质和基底结内血管和毛细血管周围性钙化。
The authors report that three children (2 males and 1 females) had primary renal diabetes insipidus with extensive intracranial calcification. To the author’s knowledge, no such cases have been reported yet. Full-term baby girl, family history no special. The first 1/2 to 3 months of normal development. Repeated hyperosmolar dehydration at 6 months followed by malnutrition, neurodevelopmental retardation, diffuse motor disturbances and clumsiness in maneuver. 4 years old IQ (IQ) of 40 to 45, and seizures, CT examination of brain frontal white matter symmetrical calcification. The girl died of sepsis at 8.8 years old and had severe electrolyte imbalance. Autopsy see disseminated cortical and basal junction of blood vessels and peripheral capillary calcification.