Cerebellar Disorders in Children – Chapter 11: Joubert Syndrome and Related Disorders (ebook)


Chapter 11 – Joubert Syndrome and Related Disorders

Enza Maria Valente, Francesco Brancati, and Bruno Dallapiccola

Joubert syndrome and related disorders (JSRD) are a group of highly heterogeneous conditions sharing a complex midbrain-hindbrain malformation known as the molar tooth sign (MTS). The main neurologic features include some or all of the following: hypotonia, ataxia, developmental delay, intellectual disability, altered breathing pattern in the neonatal period and abnormal eye movement. These are variably associated with multiorgan manifestations, mainly of the retina, kidneys, and liver. Such clinical variability requires a multidisciplinary approach for diagnosis and management.

Please note that Chapters 7-22 are also available in Part 4: Malformations.

About the Complete Book:

This clinically orientated text by an international group of experts is the first definitive reference book on disorders of the cerebellum in children. It presents a wealth of practical clinical experience backed up by a strong scientific basis for the information and guidance given. The first part sets out the theoretical underpinnings of cerebellar disorders. This is followed by sections on clinical conditions grouped according to common characteristics such as aetiology and symptomatology. The descriptions of the clinical conditions each systematically cover, as appropriate, epidemiology, prevalence, diagnostic criteria, clinical features (including course and prognosis), pathophysiology, genetics, investigations, differential diagnosis, and management and treatment. This book will be an invaluable resource for all those caring for children affected by cerebellar disorders, including malformations, genetic and metabolic disorders, acquired cerebellar damage, vascular disorders and acute ataxias. This comprehensive reference text on cerebellar disorders in children includes chapters on cerebellar development, prenatal cerebellar imaging, imaging of the posterior fossa, with coverage of a broad range of malformations, genetic and metabolic disorders involving the cerebellum, prenatal cerebellar disruptions (as related to prematurity), vascular disorders, tumors and paraneoplastic syndromes, as well as acute ataxia and trauma to the posterior fossa. Numerous checklists are provided to assist in the differential diagnosis of clinical signs and neuroimaging findings.

Paediatric neurologists, paediatricians, neurologists, developmental paediatricians, neuroimaging specialists, geneticists, neonatologists

Clinics in Developmental Medicine No. 191-192