Paroxysmal limbs jitter accompanied by different imaging findings in a Chinese family with spinocerebellar ataxia 40: Clinical and neuroimaging studies.

Spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group accompanied by obvious pontocerebellar limitations. This condition is complex both genetically and phenotypically, making it difficult to describe all the variants simultaneously. Herein, we report a proband from a Chinese mainland family who was admitted to our hospital with paroxysmal limbs jitter and head-shaking. She had experienced broad-based gait, dysarthria, dysmetria, and tremor for about 20 years. Similar clinical symptoms were observed in the daughter, sister and deceased father of this proband. Magnetic resonance imaging showed varying degrees of cerebellar atrophy. The results of whole-exome sequencing (WES) indicated that the three affected members carried the c.590G>A mutation in the CCDC88C gene. Based on the diagnosis of SCA40, this proband was treated with aggressive management. Unfortunately, the proband died of suffocation due to laryngeal oedema. Paroxysmal limbs jitter may be a rare phenotype of SCA40 and may occur as a result of involuntary motion which should be differentiated from chorea and epilepsy. In patients with SCA40, pontocerebellar atrophy occurs to varying degrees. Even in the same family, the multiple patients diagnosed did not all exhibit pontocerebellar atrophy. Furthermore, WES is indispensable for the identification of some atypical phenotypes of SCA40.

[Endoscopic surgery for nasopharyngeal angiofibroma].

OBJECTIVE: To investigate the efficacy and the surgical techniques of transnasal endoscopic procedure for juvenile nasopharyngeal angiofibroma (JNA). METHODS: Twenty-one nasopharyngeal angiofibroma patients were treated using transnasal endoscopic approach. They were divided into group A (without intracranial extension) and group B (minimal intracranial extension) according to the staging of Sessions. The patients were treated mostly with endoscopic surgery. In two midfacial operations cases, endoscopy was also used. The staging, average blood loss during surgery, tumor residual, and (or) recurrent tumor were evaluated. RESULTS: Group A (19 cases) had an average blood loss of 1000 ml. Nineteen patients had no residual or recurrent tumor over a follow-up of 8-24 months. Group B (2 cases) had an average blood loss of 1500 ml. One of the patients had minimal residual tumor around the cavernous sinus, but showed no progression over a follow-up of 2 years. Another patient had no residual or recurrent tumor over a follow-up of 8 months. CONCLUSIONS: The data suggests that transnasal endoscopic surgical techniques can be used to treat JNA which either limited to nasal and nasopharyngeal cavities or and the tumor with sphenoid and ethmoid invasions and even minimal intracranial extension.