Multiple Sclerosis: Or something else? Differential Diagnosis

Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99).

  • Vascular malformations – vascular malformations.

Eyes and eye appendages (H00-H59).

  • Anterior ischemic optic neuropathy – acute occlusion of an ophthalmic artery supplying the optic nerve in the tin Haller vascular cortex; also called ocular infarction.

Blood, blood-forming organs – immune system (D50-D90).

  • Antiphospholipid syndrome (APS; antiphospholipid antibody syndrome); autoimmune disease; predominantly women develop the disease (gynecotropia); characterized by the following triad:
  • Sarcoidosis (synonyms: Boeck’s disease; Schaumann-Besnier’s disease) – systemic connective tissue disease with granuloma formation (skin, lungs, and lymph nodes).

Endocrine, nutritional and metabolic diseases (E00-E90).

  • Congenital leukodystrophies – congenital demyelinating disease.
  • Fabry disease (synonyms: Fabry disease or Fabry-Anderson disease) – X-linked lysosomal storage disease due to a defect in the gene encoding the enzyme alpha-galactosidase A, resulting in progressive accumulation of the sphingolipid globotriaosylceramide in cells; mean age of manifestation: 3-10 years; early symptoms: Intermittent burning pain, decreased or absent sweat production, and gastrointestinal problems; if left untreated, progressive nephropathy (kidney disease) with proteinuria (increased excretion of protein in urine) and progressive renal failure (kidney weakness) and hypertrophic cardiomyopathy (HCM; disease of the heart muscle characterized by thickening of the heart muscle walls).
  • Vitamin B12 deficiency

Cardiovascular system (I00-I99)

  • Apoplexy (stroke)
  • Susac syndrome (SS; SUS) – autoimmune disease that likely results in occlusion of small vessels in the central nervous system (CNS), retina (retinal), and inner tube through an autoreactive CD8+ cell (CD: “cluster of differentiation”) mediated immune response; characterized by the triad of central nervous system dysfunction (CNS), occlusion of retinal artery side branches (BRAOs), and sensory-neural hearing loss (SNHL).

Infectious and parasitic diseases (A00-B99).

  • HIV infection
  • Lyme disease – infectious disease transmitted by ticks.
  • Syphilis – sexually transmitted infectious disease.

Musculoskeletal system and connective tissue (M00-M99).

  • Fibromyalgia (15%) (fibromyalgia syndrome) – syndrome that may result in chronic pain (at least 3 months) in multiple body regions.
  • Behçet’s disease (synonym: Adamantiades-Behçet’s disease; Behçet’s disease; Behçet’s aphthae) – multisystem disease from the rheumatic form circle, which is associated with recurrent, chronic vasculitis (vascular inflammation) of the small and large arteries and mucosal inflammation; The triad (the occurrence of three symptoms) of aphthae (painful, erosive mucosal lesions) in the mouth and aphthous genital ulcers (ulcers in the genital region), as well as uveitis (inflammation of the middle eye skin, which consists of the choroid (choroid), the ray body (corpus ciliare) and the iris) is stated as typical for the disease; a defect in cellular immunity is suspected
  • Collagenoses such as systemic lupus erythematosus (SLE) – autoimmune diseases.
  • Sjögren’s syndrome (group of sicca syndromes) – autoimmune disease from the group of collagenoses that leads to a chronic inflammatory disease of the exocrine glands, most commonly the salivary and lacrimal glands; typical sequelae or complications of sicca syndrome are:
    • Keratoconjunctivitis sicca (dry eye syndrome) due to lack of wetting of the cornea and conjunctiva with tear fluid.
    • Increased susceptibility to caries due to xerostomia (dry mouth) due to reduced salivary secretion.
    • Rhinitis sicca (dry nasal mucous membranes), hoarseness and chronic cough irritation, and impaired sexual function due to disturbance of mucous gland production of the respiratory tract and genital organs.

Neoplasms – tumor diseases (C00-D48).

  • Brain tumors, unspecified

Psyche – nervous system (F00-F99; G00-G99).

  • Acute disseminated encephalomyelitis (ADEM; synonyms: acute demyelinating encephalomyelitis, ADE; perivenous encephalomyelitis; Hurst encephalitis) – rare, acute inflammatory disorder of the central nervous system that often occurs one to four weeks after infection.
  • Migraine (22%)
  • MOG-IgG-positive encephalomyelitis (inflammation of the brain (encephalitis) and spinal cord (myelitis)); clinical picture: optic neuritis (ON; optic neuritis)), brainstem encephalitis, myelitis; manifests mainly in pediatric patients as acute disseminated encephalomyelitis (ADEM; see above).
  • Neuromyelitis optica (6%) – combination of optic neuritis (optic neuritis) and acute disseminated spinal cord softening.
  • Polyneuropathy – diseases of the peripheral nervous system affecting multiple nerves.
  • Tropical spastic tetraparesis – infectious disease that leads to paralysis of all extremities.

Legend: In bold, the most common misdiagnoses of MS (frequency in %).