关键词: axonopathy central nervous system goiter hydrocephalus hypomyelination thyroid peroxidase mutation

Mesh : Congenital Hypothyroidism / diagnostic imaging genetics diagnosis Male Animals Magnetic Resonance Imaging / veterinary Dog Diseases / diagnostic imaging Thyroxine / therapeutic use blood Dogs Hydrocephalus / veterinary diagnostic imaging genetics Iodide Peroxidase / genetics

来  源:   DOI:10.1111/jvim.17029   PDF(Pubmed)

Abstract:
A 7-month-old male French bulldog was referred for abnormal mentation and gait. Physical examination revealed a dome shaped calvarium and persistent bregmatic fontanelle. Neurological examination revealed proprioceptive ataxia, pelvic limb paraparesis and strabismus with moderate ventriculomegaly, thinning of the cerebral parenchyma, and widened cerebral sulci on magnetic resonance imaging. Masses were identified in the region of the thyroid, which appeared heterogeneous and hyperintense in T1-weighted and T2-weighted compared with the adjacent muscle signal masses were identified. Radiological diagnosis was hydrocephalus \"ex vacuo\" and goiter. Blood test revealed abnormally low total thyroxine (TT4), free thyroxine (FT4), and normal thyrotropin concentration. A diagnosis of congenital hypothyroidism was confirmed by positive genetic test for thyroid peroxidase mutation. Thyroxine supplementation treatment rapidly improved clinical signs.
摘要:
一只7个月大的雄性法国斗牛犬因异常的精神和步态而被转诊。体格检查显示圆顶状的颅骨和持续的气门。神经系统检查显示本体感觉共济失调,骨盆肢体轻瘫和斜视伴中度脑室增宽,脑实质变薄,磁共振成像显示脑沟增宽。在甲状腺区域发现了肿块,与相邻的肌肉信号质量相比,在T1加权和T2加权中出现异质性和高强度。放射学诊断为脑积水“真空”和甲状腺肿。血液检查显示总甲状腺素(TT4)异常低,游离甲状腺素(FT4),促甲状腺激素浓度正常.甲状腺过氧化物酶突变的基因检测阳性证实了先天性甲状腺功能减退症的诊断。补充甲状腺素治疗迅速改善临床体征。
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