PEDBASE.org - The Pediatric Database - Detailed information of LAFORA-BODY DISEASE

LAFORA-BODY DISEASE

DEFINITION:

A neurodegenerative disorder characterized by myoclonic seizures, tonic-clonic seizures, and progressive neurologic dysfunction (dementia).

EPIDEMIOLOGY:

incidence: rare
age of onset:
- 11 to 18 years of age with mean of 14 years
risk factors:
- familial - autosomal recessive
  - chrom.#: ?
  - gene: ?
- M = F

PATHOGENESIS:

1. Background

one of the 5 major conditions that account for the majority of cases of "Progressive Myoclonus Epilepsies"
accumulation of a specific storage material (Lafora Bodies) establishes the diagnosis

2. Genetic Defect

genetic defect -> accumulation of Lafora Bodies in cells within the brain, skin, liver, skeletal and cardiac muscle

CLINICAL FEATURES:

1. Neurological Manifestations

1. Myoclonic Seizures

variable in severity from mild to continuous
may be initially mild but progress to incapacitating
worse with stress or preceding a generalized seizure

2. Tonic-Clonic Seizures

associated with photosensitivity and complex visual aura
generalized and tends to be progressive

3. Progressive Neurologic Dysfunction

1. Dementia

rapidly progressive intellectual deterioration with dementia developing within months of onset
may progress to psychosis with delusional behaviour
behavioural changes with a decline in school performance may be the first symptom of the disease

4. Others

Focal Occipital Seizures occur in 50% of cases
dysarthria and other cerebellar signs
increased deep tendon reflexes
rigidity, hypotonia, quadriplegia
death
- occurs 2-10 years after onset
- mean age of death is 20 years

INVESTIGATIONS:

1. Imaging Studies

1. CT/MRI

cerebral atrophy

2. Pathology

1. Lafora Bodies

diagnostic and detected by light microscopy
found within the eccrine sweat gland ducts on skin biopsy
periodic acid-Schiff (PAS) positive inclusions
inclusions consist of largely polyglucosans with small phosphate and sulphate groups
CNS biospy shows Lafora Bodies typically found in the substantia nigra, superior olive, dentate nucleus, globus pallidus, & sensorimotor cortex

3. Electrodiagnostic

1. EEG

seizure activity with photomyoclonic or photoconvulsive response to photic stimulation

MANAGEMENT:

1. Supportive

no treatment available for the disease
multidisciplinary approach to ongoing problems
- Paediatrics, Neurology, Ortho, PT, OT
- myoclonic seizures
  - valproic acid +/- clonazepam

Pediatric Database - LAFORA-BODY DISEASE

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