PEDBASE.org - The Pediatric Database - Detailed information of MACROGYRIA

MACROGYRIA

DEFINITION:

A disorder of neuronal migration characterized by a paucity of secondary sulcation of the cerebral hemispheres resulting in a brain with a simplified convolutional pattern.

EPIDEMIOLOGY:

incidence: ?
age of onset:
- infancy to childhood
risk factors:
- an in utero insult to the developing brain (see below)
associated anomalies:
- other migration disorders
  - lissencephaly

PATHOGENESIS:

1. Background

a toxic insult before 20 weeks gestational age does not affect primary sulcation but interferes with secondary sulcation and prevents tertiary sulcation
pathologically, affected cortical areas are abnormal with dense gliosis and large neurons
areas of focal cortical dysplasia may act as a foci for focal clonic or myoclonic seizure activity
also called Pachygyria

CLINICAL FEATURES:

1. Neurologic Manifestations

infantile hypotonia
mental retardation
microcephaly
seizure disorder
- focal clonic or myoclonic
motor dysfunction - hypotonia
developmental delay

INVESTIGATIONS:

1. Imaging Studies

1. CT/MRI

1. Cerebral Cortex

a simplified convolutional pattern
relatively few and broad gyri
relatively few and shallow sulci
may be bilateral and symmetrical or asymmetric with only one hemisphere involved

MANAGEMENT:

1. Team Approach

periodic multidisciplinary follow-up
- Paediatrics, Neurology, Ortho, OT, PT

2. Supportive

anticonvulsants
genetic counselling

Pediatric Database - MACROGYRIA

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