2. Case
• 18 yr old boy does not have any comorbidities
present with chief C/O:
1. Difficulty in walking since 2016
2. Episodes of generalised tonic clonic movements
since 2016
3. Sudden jerky movements of all 4 limbs and body
since 2017
3. History of present illness
• September -2016
-Stiffness of both lowerlimbs
• November2016
-First episode of GTCS
-Difficulty in walking progressed – needed support to walk
• February 2017
-Worsening of symptomns
• March 2017
-Gave 10th standard exams, has not gone to school since then
• July2017
-Myoclonic jerks
4. • 2018
-GTCS second episode (january)
-6 months later 3rd episode of GTCS
-Since then monthly episodes, last 1 month has weekly
episodes
However no significant cognitive decline, hearing loss, vision
loss, visual hallucinations
Historically, no cerebellar features
Has bladder bowel control
Presently bedridden, dependent on parents for daily activities
5. On examination
Vitals : with in normal limits
GE: low set and small ears
HMF: he is oriented to time ,place, person .MOCA score -
26/30 ,dysarthric speech
CN: Cherry red spots, horizontal gaze evoked nystagmus+
MOTOR: wasting+, increased tone in both LL with
Contracture , 4+ power in both UL and 4- in left LL,
reflexes exaggerated with ankle clonus present
SENSORY: normal
CEREBELLAR: interruption with myoclonic jerks but able
to do FNT, dysdidokinesia
6. Syndrome – Progressive myoclonic jerks with
seizures, gait impairement and bipyramidal
signs with preserved cognition
• Distribution –Generalised myoclonus
• physiology– Cortical myoclonus
7. Differentials
• Progressive Myoclonic Epilepsy
PME with preserved cognition like ULD and
Type-1 sialidosis
PME with Cherry red spots - Sialidosis
• Slow viral diseases like SSPE
• Metabolic/ Mitochondrial disease
8.
9. What can we do for him ?
• Symptomatic treatment of myoclonus and
epileptic seizures - valproate and
benzodiazepines, usuallyclonazepam, and
antimyoclonic drugs such as piracetam.
• Other drugs - lamotrigine, zonisamide,
topiramate, levetiracetam.
• Pain –fracture screen, DVT screen , contracture
(analgesics + removal of causative factor)
• Physiotherapy and occupational therapy
• Genetic counseling
13. PROGRESSIVE MYOCLONIC EPILEPSY
• Onset - Any age (usually in late childhood or adolescence).
• Progressive myoclonus epilepsy should considered in a
patient with myoclonic seizures, with or without
generalized convulsive seizures in the following settings:
-Progressive cognitive decline
-Myoclonus resulting in progressive motor impairment
-Cerebellar signs
-Background slowing on EEG (particularly if increasing over
time)
-Giant SSEP
-Myoclonus that is refractory to trials of appropriate
antiseizure medication
14. The most important causes of PME include:
• Unverricht– Lundborg disease (ULD)
• Myoclonic epilepsy with ragged-red fiber
(MERRF) syndrome
• Lafora body disease (LBD)
• Neuronal ceroid lipofuscinoses (NCL)
• Sialidosis
15. Unverricht– Lundborg disease
• autosomal recessive , age of 6 and 15 yrs,
CSTB gene, highest incidence
• myoclonus- increase in frequency and severity
over time and stimulus sensitive
• Eventually develop ataxia, depression,and
mild decline in intellectual functioning.
• Patients with ULD typically live into adulthood
and the life expectancy may be normal.
16. Myoclonic epilepsy with ragged-red
fiber (MERRF) syndrome
• Multisytemic mitochondrial syndrome
• Typically begins in childhood, Mutations of MT-TK gene
The characteristics of MERRF include:
• myoclonus,
• generalized epilepsy,
• ataxia,
• ragged-red fiber in the muscle biopsy
• Other features of MERRF include peripheral neuropathy,
dementia, deafness and optic atrophy.
• Affected individuals sometimes have short stature and
cardiomyopathy.
17.
18. Lafora body disease
• A R inheritance, onset between 5 and 20 years, Death usually
within 10 years of onset.
• mutations of EPM2A - laforin , EPM2B- malin.
The characteristics of LBD include:
• generalized tonic–clonic seizures (GTCS),
• resting and action myoclonus,
• ataxia,
• dementia,
• polyspike and wave discharges in the electroencephalogram
(EEG)
• basophilic cytoplasmic inclusion bodies in portions of brain,
liver, and skin, as well as the duct cells of the sweat glands.
19.
20. Neuronal ceroid lipofuscinoses
• autosomal recessive disease.
• The clinical phenotypes traditionally divide
into infantile, late infantile, juvenile and adult,
based on age at onset.
• Characteristics: progressive myoclonus , visual
failure + accumulation of autofluorescent
lipopigment in the neurons and glial elements.
• fingerprint, curvilinear and membranous
profile inclusions in the lysosomes
21. Sialidosis
• Two sialidosis are rare causes of PME.
• Sialidosis type I (cherry-red spot myoclonus syndrome)
- caused by deficiency of neuraminidase.
• Juvenile or adult onset, characteristics are:
- pure intention and action myoclonus
- Slow progression
- absence of mental deterioration or dysmorphism
- Gradual visual failure
- tonic-clonic seizures
- ataxia,
- cherry-red spot in the fundus
22. • Sialidosis type II - deficiency of N -
acetylneuraminidase and galactosialidase,
• neonatal period to the second decade of life
• Clinical features - coarse facial features, corneal
clouding, hepatomegaly, skeletal dysplasia, and
learning disability in addition to the myoclonus
• Diagnosis - detection of high urinary
sialyloligosaccharides and by confirmation of the
lysosomal enzyme deficiency in leucocytes or
cultured fibroblasts.
