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Chapter: Paediatrics: Neurology

Paediatrics: Degenerative disorders

There are many disorders that can present with developmental regression, that is, ‘loss of skills’ and/or neurological deterioration, i.e. developing new neurological signs, or progressive intellectual deterioration.

Degenerative disorders

 

There are many disorders that can present with developmental regression, that is, ‘loss of skills’ and/or neurological deterioration, i.e. developing new neurological signs, or progressive intellectual deterioration. These signs always require intensive investigation.

 

History

 

·  Full developmental history: try and exclude autism.

 

·  Family and social history: with particular emphasis on consanguinity.

 

·  Medical history: check for other organ involvement—eyes, hearing, cardiac, endocrine, respiratory, viscerae.

 

Examination

 

·  All systems: storage disorders often involve other systems besides the brain, particularly face and viscera.

·  Neurological examination: this must be thorough. Look particularly for evidence of ataxia, myoclonus, dementia, dystonia, and pyramidal signs.

 

Investigations

 

History should guide a rational ap-proach to investigation, e.g. a family history of a similar disorder in a girl would make x linked disorders much less likely.

 

·  MRI: this form of imaging will give the largest yield. Look particularly at the white matter for leucodystrophies and see if there are any structural abnormalities (Fig. 14.6).


 

Other laboratory investigations: these are outlined in the Box 14.2.


Box 14.2 Investigations for developmental regression

 

Blood biochemistry

 

·U&E: renal failure

 

·Liver function tests: liver disease

 

·Plasma glucose and matching CSF glucose: glucose carrier transport (GLUT1) deficiency

·Plasma lactate and matching CSF lactate: mitochondrial cytopathy

 

·Ammonia: urea cycle defects

 

·Thyroid function tests: thyroid disease

 

·Urate: Lesch–Nyhan disease and purine disorders

 

·Plasma amino acids: aminoacidopathies

 

·Very long chain fatty acids: peroxisomal disorders

 

·Copper level: Menkes disease

 

·Caeruloplasmin: Wilson disease

 

Special blood investigations

 

·Vacuolated lymphocytes: Batten’s disease and other storage disorders

 

·WBC enzymes including Batten’s enzymes: lysosomal storage disorders and Batten’s disease

 

Urine

 

·Amino and organic acids: organic acidurias, MTHFR deficiency, sulphite oxidase deficiency

·Urate, creatinine, purine, and pyrimidine over 24hr: Lesch–Nyhan, purine/nucleotide phosphorylase deficiency

·Hydroxybutyric acid: succinate semialdehyde dehydrogenase deficiency

 

·Mucopolysaccharides: mucopolysaccharidoses

 

Tissue biopsies

 

·Liver: Alper’s disease

 

·Skin (choelesterol esterification): Niemann–Pick type C

 

·Muscle: mitochondrial disease

 

·Rectal: Batten’s disease

 

 

Eyes

 

Ophthalmology review: retinitis pigmentosa and other ophthalmological markers of neurological disorders e.g. cherry red spots

 

Electrophysiology

 

·Visual evoked responses: Batten’s disease

 

EEG: status epilepticus and regular spike wave discharges (e.g. progressive myoclonic epilepsies, such as lafora body, gangliosidoses)

 

 

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Paediatrics: Neurology : Paediatrics: Degenerative disorders |


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