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Aplasia of the cerebellar vermis associated with chronic renal disease. A report of six cases and a review of the literature.

作者信息

Keuth B, Alon U, Fuchshuber A, Michalk D, Querfeld U

机构信息

Klinik und Poliklinik für Kinderheilkunde, Köln, Germany.

出版信息

Eur J Pediatr. 1996 Nov;155(11):963-7. doi: 10.1007/BF02282888.

DOI:10.1007/BF02282888
PMID:8911898
Abstract

UNLABELLED

We report six patients with aplasia or hypoplasia of the cerebellar vermis with early symptoms consisting of psychomotor retardation, nystagmus and severely reduced visual acuity due to congenital amaurosis. At age 5.6-12.1 years, five of these patients developed symptoms of chronic renal failure due to renal maldevelopment.

CONCLUSION

Children presenting with vermis aplasia should be monitored for associated disorders, especially renal disease.

摘要

相似文献

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Aplasia of the cerebellar vermis associated with chronic renal disease. A report of six cases and a review of the literature.
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2
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本文引用的文献

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Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy.伴有视网膜色素变性的青少年家族性肾病。一种新的眼肾营养不良症。
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Progressive tubulointerstitial nephritis and chronic cholestatic liver disease.进行性肾小管间质性肾炎和慢性胆汁淤积性肝病。
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Cerebello-oculo-hepato-renal syndrome with possible mitochondrial dysfunction.伴有可能的线粒体功能障碍的小脑-眼-肝-肾综合征
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Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group.家族性青少年肾单位肾痨基因的定位：完善图谱并确定2号染色体上的侧翼标记。APN研究小组。
Am J Hum Genet. 1993 Dec;53(6):1256-61.
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A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.一种家族性青少年肾单位肾痨（隐性髓质囊性肾病）的基因定位于2号染色体短臂。
Nat Genet. 1993 Apr;3(4):342-5. doi: 10.1038/ng0493-342.
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Familial juvenile nephronophthisis with hepatic fibrosis and neurocutaneous dysplasia.伴有肝纤维化和神经皮肤发育异常的家族性青少年肾单位肾痨。
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Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy.线粒体细胞病。一种多系统疾病，肌肉活检可见破碎红纤维。
Arch Dis Child. 1981 Oct;56(10):741-52. doi: 10.1136/adc.56.10.741.
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Carrier detection in tapetoretinal degeneration in association with medullary cystic disease.与髓质囊性疾病相关的毯层视网膜变性的携带者检测
Am J Ophthalmol. 1983 Apr;95(4):487-94. doi: 10.1016/0002-9394(83)90269-6.
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[Joubert's syndrome. Apropos of 5 cases].
Arch Fr Pediatr. 1983 Oct;40(8):625-9.