[Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases].

Abstract

INTRODUCTION:

Joubert syndrome is produced by an alteration of the ciliary proteins essential for the structure and function of neurons and organs such as the kidneys, liver, sight, and hearing. Some 34 mutations are currently known.

OBJECTIVE:

Calculate the incidence / prevalence, describe the phenotype / genotype and radiological alterations of this ciliopathy in our health area.

PATIENTS AND METHODS:

We reviewed the medical records with a diagnosis of Joubert Syndrome in the last 10 years to collect phenotype, radiological characteristics, and extra-neurological manifestations in relation to the genetic alteration detected.

RESULTS:

7 cases were included: 5 children (6 -17 years). They had 6 different mutations. Hypotonia, thin / long fingers and delayed psychomotor development were constant. They presented dysmorphic features, mental retardation, ocular apraxia, and nystagmus indistinctly in 3/7; Neonatal apnea/hyperpnea 2/7; hypoplasia of vermis 7/7; Molar syndrome was evident in 6/7 and in 2/7 there was elongation-thinning of cerebellar peduncles. Pontomesencephalic junction tightness 6/7; fastigium of the IV ventricle high in 4/7. Among the somatic complications, retinopathy 2/7, retinal coloboma 1/7, liver fibrosis 1/7, nephronoptysis 1/7 and renal cyst 1/7.

CONCLUSIONS:

The incidence of Joubert syndrome was at least 1 / 20,000 newborns / year. The pontomesencephalic and peduncular radiological alterations were constant. Hypotonia, psychomotor retardation, and thin / long fingers affected all cases.

• Authors: J M Ramos-Fernández, A Extraviz-Moreno, R Calvo-Medina, C Ruiz-García, M D Mora-Ramírez
• Journal: Revista de neurologia (Rev Neurol) Vol. 73 Issue 4 Pg. 115-120 (Aug 15 2021) ISSN: 1576-6578 [Electronic] Spain
• Vernacular Title: Síndrome de Joubert: incidencia y descripción clinicorradiológica de una serie genotipada de siete casos.
• PMID: 34308544 (Publication Type: Journal Article)

Chemical References

• AHI1 protein, human
• Adaptor Proteins, Vesicular Transport
• Antigens, Neoplasm
• Cell Cycle Proteins
• Cep290 protein, human
• Cytoskeletal Proteins
• KIAA0586 protein, human
• Membrane Proteins
• Proteins
• TCTN2 protein, human
• TMEM67 protein, human
• ornithine decarboxylase antizyme

Topics

• Abnormalities, Multiple (diagnostic imaging, epidemiology, genetics)
• Adaptor Proteins, Vesicular Transport (genetics)
• Adolescent
• Antigens, Neoplasm (genetics)
• Cell Cycle Proteins (genetics)
• Cerebellum (abnormalities, diagnostic imaging)
• Child
• Child, Preschool
• Cytoskeletal Proteins (genetics)
• Eye Abnormalities (diagnostic imaging, epidemiology, genetics)
• Female
• Fingers (abnormalities)
• Genetic Heterogeneity
• Genotype
• Humans
• Incidence
• Kidney Diseases, Cystic (diagnostic imaging, epidemiology, genetics)
• Magnetic Resonance Imaging
• Male
• Membrane Proteins (genetics)
• Neuroimaging
• Prevalence
• Proteins (genetics)
• Retina (abnormalities, diagnostic imaging)
• Retrospective Studies
• Spain (epidemiology)
• Symptom Assessment