The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.
The First Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China.
J Med Case Rep. 2024 Sep 6;18(1):429. doi: 10.1186/s13256-024-04745-3.
Dentatorubral-pallidoluysian atrophy is a rare autosomal dominant neurodegenerative disease. It is a rare disease in the world. Therefore, sharing clinical encounters of this case can deepen global awareness and understanding of the disease.
The patient was a 34-year-old male of Han nationality who was unmarried. The patient was admitted owing to weakness of the left lower limb with walking instability for 2 months and aggravation for 1 month. There was no dizziness, headache, numbness of limbs, convulsions, nausea, vomiting, abdominal pain, ataxia, nausea, vomiting, or abdominal pain. No nausea, vomiting, diarrhea, abdominal distension, tinnitus, hearing loss, fever, cough, expectoration. Personal history: worked in Cambodia 5 years ago, worked in Dubai 3 years ago, engaged in computer work, smoking or drinking habits. The patient was unmarried. Family history: the mother had symptoms similar to walking unsteadily (undiagnosed). Positive signs include a wide-base gait with a rotatory nystagmus that jumps upward in both eyes. Bilateral finger-nose instability test was quasi-positive, rapid alternating test was negative, and eye closure tolerance test was positive. Tendon reflexes were active in both upper limbs and hyperreflexia in both lower limbs. Stability of the heel, knee, and tibia. Genetic testing showed that the number of repeats in the dentatorubral-pallidoluysian atrophy ATN1 gene was 18 and 62, and the (CAG)n repeat sequence in the ATN1 gene was abnormal, with a repeat number of 62, and the patient was a pathogenic variant. The patient was diagnosed with dentatorubral-pallidoluysian atrophy. Dentatorubral-pallidoluysian atrophy remains a progressive neurodegenerative disease with no effective treatment. At present, the proband is taking 5 mg of buspirone three times a day, which has been reported to improve the symptoms. The patient was followed up for 6 months after taking buspirone, and there was no significant improvement in the temporary symptoms. At present, there are few cases of dentatorubral-pallidoluysian atrophy, and the characteristics of nystagmus in this disease have not been proposed in the past. This case reported the unusual presentation of nystagmus.
Dentatorubral-pallidoluygur atrophy is a rare neurodegenerative disease with autosomal dominant inheritance. To the best of our knowledge, our present case report is the first case report of dentatorubral-pallidoluygur atrophy with specific nystagmus. We describe the special eye shake and its positive signs to increase dentatorubral-pallidoluysian atrophy clinical positive signs.
齿状核-红核-苍白球-路易体萎缩症是一种罕见的常染色体显性遗传性神经退行性疾病。它是一种罕见的世界性疾病。因此，分享该病例的临床遭遇可以加深全球对该病的认识和理解。
患者为 34 岁男性，汉族，未婚。因左下肢无力伴行走不稳 2 个月，加重 1 个月入院。无头晕、头痛、四肢麻木、抽搐、恶心、呕吐、腹痛、共济失调、恶心、呕吐、腹痛。无恶心、呕吐、腹泻、腹胀、耳鸣、听力下降、发热、咳嗽、咳痰。个人史：5 年前在柬埔寨工作，3 年前在迪拜工作，从事计算机工作，有吸烟或饮酒习惯。患者未婚。家族史：母亲有类似行走不稳的症状（未确诊）。阳性体征包括双眼向上跳跃的宽基步态和旋转性眼球震颤。双侧指鼻试验欠稳准，快速交替试验阴性，闭眼耐力试验阳性。上肢腱反射活跃，下肢腱反射亢进。跟膝胫稳定性。基因检测显示，齿状核-红核-苍白球-路易体萎缩症 ATN1 基因的重复数为 18 和 62，ATN1 基因的（CAG）n 重复序列异常，重复数为 62，患者为致病性变异。患者被诊断为齿状核-红核-苍白球-路易体萎缩症。齿状核-红核-苍白球-路易体萎缩症仍然是一种进行性神经退行性疾病，目前尚无有效治疗方法。目前，先证者每天服用 5mg 丁螺环酮 3 次，据报道可改善症状。服用丁螺环酮后，患者随访 6 个月，临时症状无明显改善。目前，齿状核-红核-苍白球-路易体萎缩症病例较少，该病的眼球震颤特征过去并未提出。本病例报道了一种不常见的眼球震颤表现。
齿状核-红核-苍白球-路易体萎缩症是一种罕见的常染色体显性遗传性神经退行性疾病。据我们所知，我们目前的病例报告是首例具有特定眼球震颤的齿状核-红核-苍白球-路易体萎缩症病例报告。我们描述了特殊的眼震及其阳性体征，以增加齿状核-红核-苍白球-路易体萎缩症的临床阳性体征。
