Cerebral palsy differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].

OR

[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].

Differentiating Cerebral Palsy from other Diseases

• Cerebral Palsy must be differentiated from other slowly progressive diseases such as neurodegenerative disease or metabolic disorders.
• Presence of any of the following factors may suggest an alternative diagnosis:
  • Family history of any CNS disease
  • Progressive worsening of neurological symptoms
  • Symptoms worsened during stress such as illness or fasting
  • Absence of any specific risk factor causing cerebral palsy
  • Hypotonia with weakness
  • Failure to develop milestones normally
  • Clinical findings such as muscle atrophy, ataxia, sensory disturbances and involuntary movements
• Cerebral Palsy must be differentiated from
  • Inherited Metabolic Disorders Overview
  • Intellectual Disability
  • Metabolic Myopathies
  • Metabolic Neuropathy
  • Traumatic Peripheral Nerve Lesions
  • Tumors of the Conus and Cauda Equina
  • Vascular Malformations of the Spinal Cord

• As [disease name] manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. [Subtype name 1] must be differentiated from other diseases that cause [clinical feature 1], such as [differential dx1] and [differential dx2]. In contrast, [subtype name 2] must be differentiated from other diseases that cause [clinical feature 2], such as [differential dx3] and [differential dx4].

Preferred Table

Diseases	Type of motor abnormality				Clinical findings	Laboratory findings and dianostic tests	Radiographic findings
	Spasticity	Hypotonia	Ataxia	Dystonia
Leigh syndrome	-	-	+	+	Progressive psychomotor regression Seizures External ophthalmoplegia Lactic acidosis Vomiting	Increased lactate levels in blood and CSF Genetic testing	MRI: abnormal white matter signal in the putamen, basal ganglia, and brainstem on T2 images
Niemann-Pick disease type C	-	-	+	+	Progressive neurodegeneration Hepatosplenomegaly Systemic involvement of liver, spleen, or lung precedes neurologic symptoms	Abnormal liver function tests Fibroblast cell culture with filipin staining	MRI: cerebral and cerebellar atrophy thinning of the corpus callosum
Infantile Refsum disease	-	+	+	-	Abnormalities of the optic nerve and disc Retinitis pigmentosa Sensorineural hearing loss Hepatomegaly and cirrhosis Neurologic deterioration is slower than in Zellweger syndrome or ALD	Elevated plasma VLCFA levels
Adrenoleukodystrophy	+	-	-	-	Cognitive and behavioral abnormalities Adrenal insufficiency Hyperpigmented skin Gonadal dysfunction Neurologic deterioration progresses at a variable rate
Differential Diagnosis 5