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Joubert Syndrome

CPD IV


Presentation

  • Clinical presentation Most individuals with Joubert syndrome present with hypotonia (decreased muscle tone) in infancy, which progresses to ataxia (lack of muscle control during voluntary movements) in early childhood.[news-medical.net]
  • In a minority of cases minor lateral ventriculomegaly (6 - 20% of cases), and corpus callosal dysgenesis (6-10% of cases) is also present 5,9.[radiopaedia.org]
  • The fact that most present day inhabitants of the Lower St. Lawrence region descend from this small group of settlers suggests a genetic founder effects.[sciencedaily.com]
  • A series of clinical photographs and a brief case report offer insight into the classic presentation of this uncommon disorder.[medscape.com]
  • A missense mutation within this domain has already been reported in a patient who presented with JS ( 3 ).[jasn.asnjournals.org]
Asymptomatic
  • In particular, the detection of decreased urinary concentration ability often represents the first clue to a diagnosis of NPH in otherwise asymptomatic patients.[ojrd.biomedcentral.com]
Sleep Apnea
  • 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]
Heart Disease
Hypertension
  • If CHF is diagnosed, specific follow-up should be planned to manage possible complications, including portal hypertension and esophageal varices. Prognosis Soon after birth, prognosis is related to the extent and severity of breathing dysregulation.[ojrd.biomedcentral.com]
Hepatomegaly
  • Abdominal ultrasound will explore the kidneys (to detect small cysts and loss of corticomedullar differentiation, suggestive of NPH), and the liver (to identify hepatomegaly or structural abnormalities that could underlie CHF).[ojrd.biomedcentral.com]
Abnormal Eye Movement
  • Joubert syndrome is a rare genetic disorder characterized by decreased muscle tone, difficulties with coordination, abnormal eye movements, abnormal breathing patterns and intellectual disability.[jsrdf.org]
  • A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology. 1969 Sep Valente EM, Brancati F, Dallapiccola B ; Genotypes and phenotypes of Joubert syndrome and related disorders.[patient.info]
  • Abnormal eye movements also represent a recurrent feature in JSRD.[ojrd.biomedcentral.com]
  • eye movements persist • Diminished hyperpnea and apnea Fennel et al, [8] 1999 Follow-up (n 40) Not reported Range of deficits Range of deficits • Parents described children as severely impaired • Problems with temperament, hyperactivity, aggressiveness[medscape.com]
  • Other characteristic features of the condition include episodes of unusually fast (hyperpnea) or slow (apnea) breathing in infancy, and abnormal eye movements (ocular motor apraxia).[ghr.nlm.nih.gov]
Retinal Pigmentation
  • Such defects originate from a failure in fetal fissure closure, which results in colobomas involving the retinal pigmented epithelium, the neurosensory retina or the choroids [ 46 ]. Iris colobomas have been reported in few cases [ 3 ].[ojrd.biomedcentral.com]
Psychomotor Retardation
  • Varadi V, Szabo L, Papp Z: Syndrome of polydactyly cleft lip/palate or lingual lump and psychomotor retardation in endogamic gypsies. J Med Genet. 1980, 17: 119-122. 10.1136/jmg.17.2.119. 60.[ojrd.biomedcentral.com]
Fear
  • It is a great opportunity to see these families over the years and to learn that we have the same thoughts and fears about our children. We also always get to meet new families as well.[allaboutjoey.com]
Broad Nasal Bridge
  • Features Associated With Joubert Syndrome [7] Head Slightly large when plotted on standardized graph Eyes Colobomas, nystagmus, strabismus, ptosis Ears Low set and coarse Nose Broad nasal bridge, epicanthal folds, anteverted nostrils Mouth Open, tongue[medscape.com]
Tremor
Dysarthria
  • Inventory • Degree of impairment was independent of the severity of MRI findings Andermann et al, [5] 1999 30-Year follow-up of original case (n 1) Still alive at 31 years Speech deficit; borderline intelligence Ataxia present but less striking • Severe dysarthria[medscape.com]
Unable to Walk
Broad-Based Gait
  • Patients often develop ataxia with broad-based gait in the first years of independent ambulation. These balance difficulties have been extensively reviewed [ 2 ] and, although non-specific, represent a frequent finding of JSRD.[ojrd.biomedcentral.com]

Workup

Liver Biopsy
  • Diagnosis is then confirmed by liver biopsy. Possibly associated signs need to be investigated, including pituitary defects, cleft palate, lobulated tongue, congenital heart defects, situs inversus and Hirschsprung disease.[ojrd.biomedcentral.com]

Treatment

  • Treatment Treatment Options: Treatment is mostly for specific symptoms such as respiratory distress, renal disease, speech and physical therapy, low vision, and hepatic failure.[disorders.eyes.arizona.edu]
  • Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions .[patient.info]
  • Treatment and prognosis Not an overwhelming amount of data is available on the long term outcome of children with Joubert syndrome. Persistent neuromotor developmental retardation is a feature of surviving individuals.[radiopaedia.org]
  • 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]
  • Management of the condition and prognosis Treatment for Joubert syndrome is mainly symptomatic and supportive, and must be individualized for each child’s unique needs.[news-medical.net]

Prognosis

  • Patients with associated retinal dysplasia appear to have a poorer prognosis 5.[radiopaedia.org]
  • Management of the condition and prognosis Treatment for Joubert syndrome is mainly symptomatic and supportive, and must be individualized for each child’s unique needs.[news-medical.net]
  • Prognosis This depends on the degree of malformation or agenesis of the cerebellar vermis. Some will have a mild form with mild physical disability and good mental development.[patient.info]
  • 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]
  • Prognosis of this disease is usually poor with hypotonia and severe developmental delay. Contributors: RS designed the paper and prepared the manuscript. AKJ was the overall co-ordinator and guide; he will act as the guarantor for this paper.[indianpediatrics.net]

Etiology

  • The cerebellum is the part of the brain that controls balance and coordination; the cerebellar vermis is involved with posture and rhythmic modulation of stereotypical movements, such as walking. [15–17] Although the precise etiology of Joubert syndrome[medscape.com]

Epidemiology

  • […] syndrome is a rare autosomal recessive condition characterised by partial or complete absence of the cerebellar vermis, leading to neonatal breathing abnormalities, jerky eye movements, hypotonia, ataxia, impaired equilibrium, and mental handicap. [ 2 ] Epidemiology[patient.info]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • Their classification, genetic features and pathophysiology] Rev Neurol. 2005 Oct 1-15 Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions.[patient.info]

Prevention

  • Speech: While children with Joubert may appear to understand what is said to them, neurological impairments might prevent them from being able to use words in order to communicate.[disabled-world.com]
  • Speech Although he seems to understand what is said to him, Joey’s neurological impairments prevent him from being able to use words to communicate.[allaboutjoey.com]

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