Presentation
Joubert syndrome with hepatic disease is characterized by progressive hepatic fibrosis already presenting at birth. [centogene.com]
In addition, strabismus is not uncommon and presents as either horizontal or vertical misalignment. [dovepress.com]
MRI Findings and Eye Movements Subject Vermis Deep Cerebellar Nuclei Flocculus Pons Smooth Pursuit Saccade HOKN VOR 1 Hypoplastic (severe) Region abnormal Present bilaterally Normal 2 Hypoplastic (severe) Region abnormal Present bilaterally Normal ND [iovs.arvojournals.org]
Patients with these malformations present a higher incidence of epilepsy, which is otherwise a rare feature of JSRD [ 32, 39 ]. Finally, a small number of cases present with occipital (meningo) encephalocele of variable severity [ 1, 34, 41 ]. [ojrd.biomedcentral.com]
Several conditions have been described in which characteristics of JS are present in addition to other findings. GH deficiency is not a common finding, but it can be found in the spectrum of JS and JSRD. [adc.bmj.com]
Entire Body System
-
Developmental Delay
The neurological features of JSRD include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. [ncbi.nlm.nih.gov]
delay and multiple congenital anomalies. [centogene.com]
Discussion The incidence of JS has been estimated to be between 1/80,000 and 1/100,000 live births. 8 The cardinal neurological features of JS are hypotonia that evolves into ataxia and developmental delay. [dovepress.com]
Respiratoric
-
Hyperpnea
A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology. 1969;19:813–825. 2. Boltshauser E, Isler W. [dovepress.com]
Historical note and terminology In 1969, Marie Joubert and colleagues reported a previously undescribed syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation associated with agenesis of the cerebellar vermis ( Joubert et al 1999 [medlink.com]
The most common features of Joubert syndrome are lack of muscle control (ataxia), abnormal breathing patterns (hyperpnea), sleep apnea, abnormal eye and tongue movements and low muscle tone. [rarediseases.org]
The typical respiratory abnormalities are represented by short alternate episodes of apnea and hyperpnea or episodic hyperpnea alone, which tend to occur shortly after birth, intensify with emotional stress and progressively improve with age, usually [ojrd.biomedcentral.com]
-
Tachypnea
Additional features often identified in individuals with Joubert syndrome include 1 : Abnormal breathing (tachypnea and/or apnea) Abnormal eye movements, typically oculomotor apraxia Retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele [centogene.com]
Neurologic
-
Hyperactivity
These problems often emerge in temperament, hyperactivity, and aggressiveness. Careful examination of the face, especially in infancy, shows a characteristic appearance. [rehabpub.com]
-
Tremor
In some cases, tremor has been reported [ 20 ]. [ojrd.biomedcentral.com]
Workup
In In this article, the author gives an update of the diagnostic workup, refers to other cerebello-oculo-renal syndromes, and summarizes the actual knowledge about molecular genetics. [medlink.com]
Treatment
Standard Therapies Treatment The treatment for Joubert syndrome is symptomatic and supportive. Developmental delays are usually treated with physical therapy, occupational therapy, speech therapy and infant stimulation. [rarediseases.org]
Patients with JS need a multidisciplinary approach and a clinical and laboratory follow up to assess a multiorgan involvement and to identify hormone deficiency and, when it’s possible, to estabilish a treatment. [adc.bmj.com]
Treatment of Joubert syndrome-affected patients is primarily symptomatic. Infants and children with abnormal breathing may require supplemental oxygen and mechanical support. [centogene.com]
In addition, on the basis of the Early Treatment Diabetic Retinopathy Study sectors, the thickness of center (central fovea), inner ring (1–3 mm from the central fovea), and outer ring (3–6 mm from the central fovea) in his right eye were 283 μm, 327.5 [dovepress.com]
Treatment for the syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing patterns should be monitored. [rehabpub.com]
Prognosis
After the first months of life, global prognosis varies considerably among JSRD subgroups, depending on the extent and severity of organ involvement. [ncbi.nlm.nih.gov]
Prognosis Soon after birth, prognosis is related to the extent and severity of breathing dysregulation. In particular, recurrent episodes of prolonged apneas can be life-threatening and require assisted ventilation. [ojrd.biomedcentral.com]
Epidemiology
Epidemiology Although the incidence of JSRD has not been precisely determined, it may range between 1/80,000 and 1/100,000 live births, but may be underestimated [ 16, 17 ]. [ojrd.biomedcentral.com]