PEDBASE.org - The Pediatric Database - Detailed information of AGENESIS OF THE CEREBELLAR VERMIS

AGENESIS OF THE CEREBELLAR VERMIS

DEFINITION:

A congenital anomaly of the cerebellum characterized by partial or complete agenesis of the vermis.

EPIDEMIOLOGY:

incidence: ?
age of onset:
- infancy
risk factors:
- familial
  - partial agenesis - autosomal or X-linked dominant
  - complete " - autosomal recessive
associated anomalies:
- Dandy-Walker Malformation
- Joubert Syndrome
- AGENESIS OF THE CEREBELLAR VERMIS

CLINICAL FEATURES:

1. Neurological Manifestations

1. Partial Agenesis

asymptomatic -> nonprogressive symptomatic
- mild to severe ataxia
- upbeat nystagmus

2. Complete Agenesis

1. Motor Dysfunction

generalized infantile hypotonia
normal or increased deep tendon reflexes
delayed motor milestones

2. Cerebellar Dysfunction

nystagmus
titubation of the head
truncal ataxia

3. Others

mental retardation
microcephaly
abnormal respiratory rate - alternating periods of hyperpnea and apnea

INVESTIGATIONS:

1. Imaging Studies

1. CT/MRI

partial or complete agenesis of the cerebellar vermis
enlargement of the cisterna magna
other congenital malformations - Dandy-Walker Malformation, AGENESIS OF THE CEREBELLAR VERMIS

MANAGEMENT:

1. Supportive

no treatment available

Pediatric Database - AGENESIS OF THE CEREBELLAR VERMIS

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