Joubert综合征一例

患者男,出生后发现头围增大并气促1周入院(2007年3月26日).患儿足月,因"胎儿窘迫"行剖宫产取出,出生体重3.25kg,无窒息抢救史,1、3、5 min Apgar评分均为10分.患儿出生后出现气促,呼吸不规则,烦躁,易激惹,肢体震颤.查体:哭时口角左歪,右面部纹理较左深,头围由出生时34 cm进展为36.5 cm.前囟由2.5 cmx2.5 cm进展为6 cmx6cm,双上肢肌力稍减低.无类似疾病家族史,父母健康,非近亲结婚.余尤特殊.     

脑内海绵状血管瘤的MRI诊断与鉴别诊断

近年来,通过我们的临床实践,发现海绵状血管瘤在脑血管畸形中所占的比例要比以往所报道的大得多。临床上就诊的原因,一部分是在检查其他疾病时发现;一部分是由于合并出血引发了诸如抽搐、面瘫、肢体不适等症状而就诊。     

脑干脑炎的MRI诊断及鉴别诊断

目的探讨脑干脑炎的MRI表现特点、诊断价值与脑干梗死及肿瘤的鉴别诊断。方法回顾分析30例脑干脑炎、20例脑干梗死和20例脑干肿瘤MRI表现特点，并进行鉴别比较。结果脑干脑炎MRI表现为脑桥中脑及延髓对称性长T1、长T2信号改变，好发部位依次为脑桥〉中脑〉延髓，增强扫描大多不强化，MRA多无异常；脑干梗死病变较为局限，形态为不规则形，多为单侧发病（18例），信号呈长T1、长T2信号，椎一基底动脉可有异常（11例），增强扫描可有斑片状或环状强化（15例），脑干肿瘤多为单侧局限病灶，脑干膨胀，占位效应明显，增强扫描多有强化（19例）。结论脑干脑炎MRI其表现特点，结合临床及实验室检查，不难与脑干梗死及脑干肿瘤作出鉴别诊断，对临床治疗起重要作用。     

新生儿Joubert综合征临床特征(附3例报告)

目的探讨新生儿Joubert综合征的临床特征。方法回顾性分析3例Joubert综合征患儿的临床资料,并对相关文献资料进行复习。结果 Joubert综合征临床表现多样,可多器官受累。本病多表现为新生儿异常呼吸、肌张力减退、发育迟缓,并可侵及眼、肾、肝、肠道等组织。本组2例患儿失访,1例患儿肺炎经治疗好转出院,仍伴有阵发性气促、肌张力低下表现。结论 Joubert综合征具有发育迟缓、肌张力减退、异常呼吸及眼球异常运动等典型临床表现。影像学特征包括第四脑室具有"磨牙征"、"中线裂征"及"蝙蝠翼征"等。     

脑干肿瘤与脑干脑炎的鉴别诊断

目的　探讨脑干肿瘤与脑干脑炎的鉴别诊断。方法　回顾性分析临床确诊的 94例脑干肿瘤和30例脑干脑炎患者的临床与影像学资料 ,并进行比较。结果　脑干肿瘤与脑干脑炎患者在平均发病年龄(19 8岁、36 7岁 )、缓慢起病 (6 7 0 %、10 0 % )、双侧神经体征 (2 2 3%、90 0 % )、CT未见异常 (39 4 %、73 3% )、出现低密度灶 (4 7 9%、2 6 7% )、MRI未见异常 (1 4 %、31 2 % )、出现长T2 信号 (95 5 %、6 8 4 % )、边界清楚(5 0 7%、10 5 % )、有增强表现 (79 5 %、2 0 0 % )及预后方面差异有显著性 (均P <0 0 0 1) ;而脑脊液 (CSF)、脑电图 (EEG)检查结果差异无显著性。结论　脑干肿瘤与脑干脑炎在临床症状、体征和预后有其不同点 ,尤其影像学 ;而CSF、EEG则难以鉴别。     

脑干脑炎的MRI诊断及鉴别诊断

目的探讨脑干脑炎的MRI表现特点、诊断价值与脑干梗死及肿瘤的鉴别诊断。方法回顾分析30例脑干脑炎、20例脑干梗死和20例脑干肿瘤MRI表现特点,并进行鉴别比较。结果脑干脑炎MRI表现为脑桥中脑及延髓对称性长T1、长T2信号改变,好发部位依次为脑桥>中脑>延髓,增强扫描大多不强化,MRA多无异常;脑干梗死病变较为局限,形态为不规则形,多为单侧发病(18例),信号呈长T1、长T2信号,椎-基底动脉可有异常(11例),增强扫描可有斑片状或环状强化(15例),脑干肿瘤多为单侧局限病灶,脑干膨胀,占位效应明显,增强扫描多有强化(19例)。结论脑干脑炎MRI其表现特点,结合临床及实验室检查,不难与脑干梗死及脑干肿瘤作出鉴别诊断,对临床治疗起重要作用。     

26例多发性硬化患者的临床与鉴别诊断

目的 分析26例临床确诊的多发性硬化(multiple sclerosis，MS)患者的临床资料。方法 回顾性总结临床确诊MS患者的临床表现、实验室检查以及影像学表现。结果 26例MS患者最常见的临床症状为肢体无力和感觉异常，其次为肌肉痉挛性疼痛、视力障碍、尿便异常、共济失调，个别患者可有周围神经改变。实验室检查示：脑脊液蛋白水平和IgG量增高最常见。磁共振(MRI)异常率高达90．9％。结论 MS是一种临床表现复杂、累及中枢神经系统白质多部位、病程表现多时相的自身免疫性疾病。但临床有周围神经症状及MRI发现皮层病灶也并非是排除MS的绝对标准。在诊断MS时，尤其对于单病灶或多病灶、单时相病程患者应从临床和影像学方面注意与脑梗死、脊髓疾病相鉴别。     

神经肌电图检查对肘管综合征与腕尺管综合征鉴别诊断的价值

目的探讨神经肌电图检查在肘管综合征(CuTS)与腕尺管综合征(UTS)鉴别诊断中的应用价值。方法对35例单侧上肢临床症状、体征符合CuTS或UTS的患者进行尺神经、正中神经远端运动潜伏期(DML)、运动传导速度(MCV)、感觉传导速度(SCV)、波幅(AMP)及尺神经肘部寸移电位检测;尺神经、正中神经所支配的肌肉肌电图(EMG)检测。结果 35例患者中,CuTS 29例(83%),UTS 4例(11%),正常2例(6%),总异常率94%。结论神经肌电图检测可明确鉴别肘管综合征与腕尺管综合征,为临床诊断及治疗提供依据,有重要的临床应用价值。     

Tolosa—Hunt综合征及其鉴别诊断

报道７例Ｔｏｌｏｓａ－Ｈｕｎｔ综合征（ＴＨＳ）和１１例非ＴＨＳ痛性眼肌麻痹病例的临床资料，并重点讨论了它们之间的鉴别诊断。     

Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases

Objective

Arima syndrome (AS) is a rare disease and its clinical features mimic those of Joubert syndrome or Joubert syndrome-related diseases (JSRD). Recently, we clarified the AS diagnostic criteria and its severe phenotype. However, genetic evidence of AS remains unknown. We explored causative genes of AS and compared the clinical and genetic features of AS with the other JSRD.

Joubert syndrome and related disorders

The cerebellum plays a role not only in motor control but also in motor learning and cognition. Joubert syndrome is a rare heterogeneous inherited genetic disorder characterized by ataxia, hypotonia, developmental delay, and at least one of the following features: neonatal respiratory disturbances or abnormal eye movement. The estimated frequency of Joubert syndrome in the United States is around 1 : 100 000. The term Joubert syndrome and related disorders (JSRD) has been recently coined to describe all disorders presenting with molar tooth sign on brain neuroimaging. Joubert syndrome is believed to be a representative of a new group of disorders named ciliopathies. The identification of seven causal genes (NPHP1, AHI1, CEP290, RPGRIP1L, TMEM67/MKS3, ARL13B, CC2D2A) has led to substantial progress in the understanding of the genetic basis of Joubert syndrome. The authors focus on clinical presentation of JSRD, differential diagnosis and molecular background.     

A case of cranial meningocele associated with Joubert syndrome

Joubert syndrome was first reported in 1969 as a rare, recessive autosomal syndrome associated with neuropathological abnormalities of the cerebellum and brain stem, partial or complete aplasia of the cerebellar vermis, and presenting with episodic hyperpnea and apnea, oculomotor abnormalities, and psychomotor retardation. Having experienced one case of this syndrome with associated cranial meningocele, we report the clinical course, MRI features, and surgical findings, and discuss the relevant literature.     

Joubert syndrome: Clinical and radiological characteristics of nine patients

Background:

Joubert Syndrome (JS) is a rare genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of the brain (mainly cerebellar vermis and brainstem) are underdeveloped or malformed. This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in every patient.

Aim of the Study:

To spotlight and increase awareness of clinical profile and neuroimaging findings of children with Joubert syndrome.

Methods:

This is a retrospective case series study of patients with JS who attended the Pediatric Neurology Clinic in Aladan and Alfarawanya Hospitals in Kuwait, from September 2007 to September 2012. Clinical and radiological data were obtained from the patient medical records.

Results:

Cerebellar vermis hypoplasia/aplasia and apnea were present in all patients, polydactly in 3 of 16, renal problems with cysts in 5 patients and 11 of 16 had abnormal electroretinograms (ERGs). Blood investigations of organic acids, amino acids and very-long-chain fatty acid, were normal in the all the nine patients.

Conclusion:

JS is a rare genetic brain malformation with association of retinal dystrophy and renal abnormalities. The retinal dystrophy may be progressive. The prognosis of patients depends mainly on the degree of brain malformation.     

Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant

BackgroundJoubert syndrome is an autosomal recessive or X-linked genetic disease with a cerebellar vermis defect or hypoplasia, hypotonia, ocular dyskinesia, and mental retardation. In neonates, respiratory problems such as apnea and tachypnea are notable.Case reportWe report a patient Joubert syndrome with a homozygous NPHP1 variant, who had head titubation with irritability, including exaggerated jitteriness and a marked Morrow reflex appeared soon after birth without neonatal respiratory problems. These symptoms decreased gradually and disappeared until 1 year.ConclusionIrritability with head titubation may be an early clinical clue for the clinician to suspect Joubert syndrome.     

Clinical and molecular characteristics of tectonic (TCTN1) gene-related Joubert syndrome in a Saudi boy

Joubert syndrome (OMIM:609863) is a hereditary disorder characterized by hypotonia, developmental delay, and a distinctive cerebellar and brain stem malformation known as the molar tooth sign. Variants in tectonic genes TCTN1-3 have been described in a few patients with Joubert syndrome. Furthermore, Joubert syndrome attributed to variants in the TCTN1 (NM_001082538.2) gene has been only described in two reports. This report expands the clinical variability and molecular characterization of an emerging novel causative gene for Joubert syndrome in a Saudi boy born to non-consanguineous marriage with a c.1418del p.(Pro473Leufs*42) and c.800A > G p.(Tyr267Cys) representing a novel compound heterozygous variant of the TCTN1 gene identified by whole-exome sequencing and confirmed by Sanger sequencing. This is the first report of compound heterozygous Joubert syndrome type 13 from Saudi Arabia.     

Joubert syndrome: review and report of seven new cases

Joubert syndrome (JS) is an autosomal-recessive disorder, characterized by hypotonia, ataxia, global developmental delay and molar tooth sign on magnetic resonance imaging. A variety of other abnormalities have been described in children with JS, including abnormal breathing, abnormal eye movements, a characteristic facial appearance, delayed language, hypersensitivity to noise, autism, ocular and oculomotor abnormalities, meningoencephaloceles, microcephaly, low-set ears, polydactyly, retinal dysplasia, kidney abnormalities (renal cysts), soft tissue tumor of the tongue, liver disease and duodenal atresia. Even within siblings the phenotype may vary, making it difficult to establish the exact clinical diagnostic boundaries of JS. We review the clinical characteristics of seven cases that fulfill the criteria of JS.     

Manifestations psychopathologiques dans le syndrome de Joubert

Introduction

In the frame of works concerning psychiatric manifestations of genetic syndromes, we studied the psychopathological disorders of the Joubert Syndrome. This congenital syndrome affects the cerebellum and the brain stem.

Joubert syndrome surviving to adulthood associated with a progressive movement disorder.

A 48-year-old man presented with a progressive gait disorder. He had longstanding ataxia, oculomotor apraxia, motor delay, and cognitive impairment, diagnosed as cerebral palsy. Physical examination revealed ataxia, oculomotor apraxia, extrapyramidal signs, and a wide-based, shuffling gait. Magnetic resonance imaging showed vermian aplasia, consistent with Joubert syndrome. Positron emission tomography scan revealed normal fluorodopa uptake, but elevated raclopride binding, compatible with dopamine deficiency. This case demonstrates that a patient with Joubert syndrome may survive into adulthood and present as a chronic neurologic disorder with subacute extrapyramidal signs.     

颅内结核瘤的临床与MRI特点分析

目的为提高颅内结核瘤的诊断和治疗水平.方法10年来共收治32例颅内结核瘤患者,其中手术、立体定向活检术及尸检证实8例,抗结核治疗有效24例,全部病例均行头颅MRI扫描.结果32例脑结核瘤MRI显示单发25例,多发7例,共发现46个病灶,不同类型的结核瘤MRI表现各异,不同类型结核瘤对抗结核药物的反应不同.结论MRI可以明确诊断典型的脑结核瘤,并能帮助提高鉴别诊断水平.