MRI in Joubert Syndrome
نویسندگان
چکیده
The patient was an 8-month-old boy who was the product of a full-term and uncomplicated pregnancy. He had a remarkable family history with the presence of the same clinical course in a cousin, who was not clearly diagnosed as having Joubert Syndrome. He had apnea episodes, truncal ataxia, pendular nystagmus and mentalmotor developmental delay. He had a normal vestibuloocular reflex based on head thrust, but had absent-topoor ability to cancel the vestibulo-ocular reflex horizontally and vertically.
منابع مشابه
Joubert syndrome with atrial septal defect and persistent left superior vena cava.
Joubert syndrome is a rare disorder characterized by hypotonia, ataxia, episodic hyperpnoea, psychomotor delay, abnormal ocular movements, and molar tooth sign on magnetic resonance imaging (MRI). This syndrome is inherited as an autosomal recessive trait, but the molecular basis and specific chromosomal locus have not yet been identified. MRI features are the most important diagnostic criteria...
متن کاملSpeech difficulties in Joubert syndrome
Introduction: "Joubert syndrome" was first introduced in1969. This syndrome is a rare genetic disease with autosomal dominantpattern. Hypotonia, ataxia and motor delay of the disease known as clinical manifestations. In the few reports of this syndrome, mostly functional and structural components studied and radiographic images such as speech and language developmental delay symptoms has been l...
متن کاملMRI Evaluation of the Brain in Children with Attention Deficit and Hyperactivity Disorder; How to Hear the Whispers Early?
Background Attention deficit and hyperactivity disorder (ADHD) is a disorder of the brain characterized by periods of inattention, hyperactivity and impulsive behavior. We aimed to evaluate the role of MRI of the brain in children with ADHD. Materials and Methods This prospective study included 100 children with clinical diagnosis of attention deficit and hyperactivity disorder according to the...
متن کاملMolar tooth sign: neuroimaging characteristic of Joubert syndrome.
A two-year-old boy, born of non-consanguineous marriage was brought with delayed motor and language milestones. The parents had also noted abnormal eye movements and periodic breathing difficulty since early infancy. The child was third of three sibs and the other two sibs were normal. On examination, the child was hypotonic and mentally retarded and had severe truncal ataxia and oculomotor apr...
متن کاملJoubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia
We describe two sisters who presented in early childhood with motor delay and unusual eye movements. Both demonstrated hypotonia and poor visual attention. The older girl at 14 weeks of age showed fine pendular horizontal nystagmus more pronounced on lateral gaze, but despite investigation with cranial MRI no diagnosis was reached. The birth of her younger sister four years later with a similar...
متن کاملNeurobehavioral development in Joubert syndrome.
Research on children with Joubert syndrome has focused on brain structural abnormalities and associated clinical symptoms. The degree of developmental delay has not been objectively reported. We investigated the neurobehavioral development of children with Joubert syndrome through neurobehavioral assessment in the largest sample to date. Thirty-two parents of children with Joubert syndrome comp...
متن کامل