Cerebral palsy (CP): differential diagnosis

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Cerebral palsy (CP): differential diagnosis. 3-Methylglutaconic aciduria, Adrenoleukodystrophy (ALD). Fully referenced neurology checklist.

Differentials of predominantly spastic CP

  • 3-Methylglutaconic aciduria 
  • Adrenoleukodystrophy (ALD)
  • Adrenomyeloneuropathy (AMN)
  • Arginase deficiency
  • Biotidinase deficiency
  • COL4A1 deficiency
  • Glutaric aciduria type 1
  • Hereditary spastic paraparesis (HSP)
  • Metachromatic leukodystrophy (MLD)
  • Molybdenum cofactor deficiency
  • Neuronal ceroid lipofuscinosis
  • Sulfite oxidase deficiency
  • Uner Tan syndrome: ITPR1 gene mutation

Differentials of predominantly dyskinetic CP

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Differentials of predominantly ataxic CP

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Differentials of predominantly weakness CP

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References

  1. Hakami WS, Hundallah KJ, Tabarki BM. Metabolic and genetic disorders mimicking cerebral palsy. Neurosciences (Riyadh) 2019; 24:155-163. 
  2. Gupta R, Appleton RE. Cerebral palsy: not always what it seems. Arch Dis Child 2001; 85:356-360.
  3. Pantaleoni C, D'Arrigo S, D'Incerti L, Rimoldi M, Riva D. A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy. Pediatr Neurol 2000; 23:442-444.
  4. Straussberg R, Brand N, Gadoth N. 3-Methyl glutaconic aciduria in Iraqi Jewish children may be misdiagnosed as cerebral palsy. Neuropediatrics 1998; 29:54-56.
  5. Suchowersky O, Ashtiani S, Au PB, McLeod S, Estiar MA, Gan-Or Z, Rouleau GA. Hereditary spastic paraplegia initially diagnosed as cerebral palsy. Clin Park Relat Disord 2021; 5:100114.
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