Cerebral palsy (CP): differential diagnosis

Evidence-based neurology checklist on cerebral palsy (cp): differential diagnosis: Differentials of predominantly spastic CP 3-Methylglutaconic aciduria Adrenoleukodystrophy (ALD) Adrenomyeloneuropathy (AMN) Arginase deficiency Biotidinase deficiency COL4A1 deficiency Glutaric aciduria type 1…

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

Differentials of predominantly ataxic CP

Differentials of predominantly weakness CP

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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