PDF(Pubmed)
Abstract：
Joubert syndrome (JS) is a rare, autosomal recessive, genetic syndrome that derives from the defects in a sensory organelle, the primary cilia. It is a multiorgan disorder affecting the brain, kidneys, liver, and eyes. The most common presenting feature in the newborn period is hypotonia, abnormal eye movements, irregular breathing pattern, characterized by episodic hyperpnea and apnea, later on, ataxia, and developmental retardation. Besides, a range of highly variable, systemic and ocular features can be present. We report a case of 2-month-old female infant, the product of a consanguineous marriage, with a sibling affected by JS, presenting with intermittent hyperpnea, apnea, facial dysmorphism, strabismus, oculomotor apraxia, proptosis, retinal dystrophy, chorioretinal coloboma, and large retrobulbar cysts communicating with the coloboma. Magnetic resonance imaging of the brain revealed the characteristic neuroradiologic finding, the \"molar tooth sign.\" The child does not fix or follow the light, and the visual prognosis with all the ocular features of the syndrome present is extremely poor. In addition to adding to the diversity of ocular phenotypes, this case reiterates the importance of identifying the syndrome, understanding the varied ocular phenotypic presentations, need for further research on causative genes, prenatal diagnosis in affected families, interventions, and adequate genetic counseling.
摘要：
Joubert综合征(JS)是一种罕见的，常染色体隐性遗传,由感觉细胞器缺陷引起的遗传综合征，主要纤毛。这是一种影响大脑的多器官疾病，肾脏，肝脏,和眼睛。新生儿时期最常见的表现特征是张力减退，异常的眼球运动,不规则的呼吸模式，以间歇性呼吸过度和呼吸暂停为特征，稍后，共济失调,和发育迟缓。此外,一系列高度可变的，可以存在系统和眼部特征。我们报告一例2个月大的女婴,血缘婚姻的产物,有一个受JS影响的兄弟姐妹，表现为间歇性呼吸过度，呼吸暂停,面部畸形,斜视,动眼失用症,突增,视网膜营养不良,脉络膜视网膜缺损,和巨大的球后囊肿与结肠瘤相通。大脑的磁共振成像揭示了特征性的神经放射学发现，“磨牙”标志。\"孩子不修理或跟随灯，并且该综合征存在的所有眼部特征的视觉预后极差。除了增加眼部表型的多样性，这个案例重申了识别综合症的重要性，了解不同的眼部表型表现，需要进一步研究致病基因，受影响家庭的产前诊断，干预措施，和足够的遗传咨询。
