Malaki Majid, Nemati Masood, Shoaran Maryam
Department of Pediatric Nephrology, Tabriz University of Medical Sciences, Tabriz, Iran.
Saudi J Kidney Dis Transpl. 2012 Mar;23(2):325-9.
An 8-month-old girl with a history of asphyxia and respiratory distress immediately after birth was hospitalized at her fourth month of age with the diagnosis of kidney infection and it was revealed that she had a unilateral multicystic dysplastic kidney. In recent admission, she presented to emergency room with fever, hyperpnea, and apnea. In appearance, she was a hypotonic girl with broad forehead, hypertelorism, depressed nasal bridge and bitemporal regions, rapid vertical and horizontal nystagmus, and open mouth with salivation. In spite of normal physical growth, she had delayed developmental milestones. Blood gas O 2 saturation dropped after she received phenobarbital. Her urinary and blood tests were normal; however, her cranial magnetic resonance imaging (MRI) revealed vermis agenesis and molar tooth sign. These physical and para-clinical findings suggested Joubert syndrome.
一名8个月大的女孩，出生后立即出现窒息和呼吸窘迫史，在4个月大时因肾感染诊断住院，结果发现她患有单侧多囊性发育不良肾。在最近一次入院时，她因发热、呼吸急促和呼吸暂停被送往急诊室。从外观上看，她是一个肌张力低下的女孩，额头宽阔，眼距过宽，鼻梁凹陷，双侧颞部凹陷，垂直和水平方向快速眼球震颤，张嘴流涎。尽管身体生长正常，但她的发育里程碑有所延迟。她接受苯巴比妥后血氧饱和度下降。她的尿液和血液检查正常；然而，她的头颅磁共振成像（MRI）显示小脑蚓部缺如和磨牙征。这些体格检查和辅助检查结果提示为乔伯特综合征。
