Centre for Clinical Veterinary Medicine, Faculty of Veterinary Medicine, LMU Munich, Munich, Germany.
Section of Clinical and Comparative Pathology, Faculty of Veterinary Medicine, LMU Munich, Munich, Germany.
J Vet Intern Med. 2021 May;35(3):1455-1465. doi: 10.1111/jvim.16085. Epub 2021 Mar 18.
Shaking puppy syndrome is commonly attributed to abnormal myelination of the central nervous system.
HYPOTHESIS/OBJECTIVES: To report the long-term clinical course and the imaging characteristics of hypomyelinating leukodystrophy in German Shepherd dogs.
Three related litters with 11 affected dogs.
The 11 affected dogs experienced coarse, side-to-side tremors of the head and trunk, which interfered with normal goal-oriented movements and disappeared at rest. Signs were noticed shortly after birth. Nine dogs were euthanized, 3 dogs underwent pathological examination, and 2 littermates were raised by their breeder. Tremors improved gradually until 6 to 7 months of age. Adult dogs walked with severe residual pelvic limb ataxia. One dog developed epilepsy with tonic-clonic seizures at 15 months of age. Conventional magnetic resonance imaging (MRI) disclosed homogenous hyperintense signal of the entire subcortical white matter in 3 affected 7-week-old dogs and a hypointense signal in a presumably unaffected littermate. Subcortical white matter appeared isointense to gray matter at 15 and 27 weeks of age on repeated MRI. Abnormal white matter signal with failure to display normal gray-white matter contrast persisted into adulthood. Cerebellar arbor vitae was not visible at any time point. Clinical signs, MRI findings, and pathological examinations were indicative of a hypomyelinating leukodystrophy. All parents of the affected litters shared a common ancestor and relatedness of the puppies suggested an autosomal recessive mode of inheritance.
We describe a novel hypomyelinating leukodystrophy in German Shepherd dogs with a suspected inherited origin.
摇晃幼犬综合征通常归因于中枢神经系统的异常髓鞘形成。
假设/目的：报告德国牧羊犬脱髓鞘性白质营养不良的长期临床病程和影像学特征。
三个相关的幼犬群，共 11 只受影响的狗。
11 只受影响的狗经历头部和躯干的粗糙、侧向震颤，这干扰了正常的定向运动，并在休息时消失。出生后不久就发现了这些迹象。9 只狗被安乐死，3 只狗接受了病理检查，2 只同窝的狗由其饲养员饲养。震颤在 6 到 7 个月大时逐渐改善。成年狗行走时严重残留骨盆肢体共济失调。一只狗在 15 个月大时出现癫痫大发作。常规磁共振成像（MRI）显示 3 只受影响的 7 周龄犬的整个皮质下白质呈均匀高信号，而假定未受影响的同窝犬呈低信号。皮质下白质在 15 和 27 周龄时在重复 MRI 上表现为等信号与灰质。异常的白质信号未能显示正常的灰白质对比，一直持续到成年。小脑树突在任何时间点都不可见。临床症状、MRI 发现和病理检查提示为脱髓鞘性白质营养不良。受影响的幼犬群的所有父母都有一个共同的祖先，幼犬之间的亲缘关系提示常染色体隐性遗传模式。
我们描述了一种新的德国牧羊犬脱髓鞘性白质营养不良，疑似遗传起源。
