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change, with Kayser Fleischer rings on the iris. Extrapyramidal features, in particular in
association with non-epileptic drop attacks (cataplexy) may suggest Niemann Pick type C.

The progressive myoclonic epilepsies are again likely to present with infrequent seizures,
with a later increase in frequency and associated cognitive concerns. A high index of
suspicion is required to investigate these early.

Table 1. Neurodegenerative conditions that may present with epilepsy as a symptom.

Infancy 15 years 510 years Adolescence and
adulthood

Metabolic Mitochondrial SSPE Progressive
cytopathy HIV myoclonic epilepsy
 Non-ketotic Homocysteinuria Alpers’ disease
hyperglycinaemia Rett syndrome Wilson’s disease  Lafora body
Late infantile NCL Niemann Pick type C
 D-glyceric aciduria Gaucher’s type III  Unverricht-
Alpers’ disease Lundberg
 Hyperammonaemia
Biotinidase deficiency Sialidoses
Late infantile NCL Alpers’ disease
Menkes syndrome
Krabbe disease
Tay Sachs disease
Peroxisomal disorders
Alpers’ disease

NCL: neuronal ceroid lipofuscinosis; SSPE: subacute sclerosing panencephalitis; HIV: human immuno-
deficiency virus; PNDC: progressive neuronal degeneration of childhood

Table 2. Investigations to consider with ‘true’ neurological deterioration in association
with epilepsy.

EEG (including sleep)
ERG/VEP
MRI
Blood
 FBC, LFT, NH3, amino acids, lysosomal enzymes,VLCFA,

bile salts, vacuolated lymphocytes/buffy coat, Cu/Caeruloplasmin, biotinidase, lactate
Genetic studies for specific conditions
 Discuss with paediatric neurologist and geneticist
Urine
 Amino acids, organic acids
CSF
 Lactate, amino acids, virology
Biopsy
 Skin, liver, muscle

EEG: electroencephalogram; ERG: electroretinogram; VEP: visual evoked potential; FBC: full blood counts;
LFT: liver function tests; VLCFA: very long chain fatty acids