• A 3-year-old boy is brought to the clinic by his mother due to a severe ear infection. She is upset because he just recovered from one about two months ago. On exam, he has multiple telangiectasias on his face and walks with difficulty. On further questioning, his mother reveals that though he has learned to walk at 1 year of age he instead has not improved steadily like his older sister, but seems to have regressed. He is clumsy when walking and his trunk seems unstable.
  • Primary immunodeficiency of B and T cells
  • Pathogenesis
    • mutation in ATM gene, encoding a DNA repair enzyme
      • unable to repair double-stranded breaks in DNA
      • arrests cell cycle
      • cerebellar degeneration
  • Genetics
    • autosomal recessive
  • To remember: 4A's
    • ATM gene
    • Ataxia (cerebellar defects)
    • spider Angiomas (telangiectasia)
    • IgA deficiency
  • Symptoms
    • ataxia onset in childhood
    • telangiectasias onset in childhood
    • recurrent sinopulmonary infections
      • ears, sinuses, lungs
  • Physical exam
    • multiple telangiectasias, most commonly on face and ears
      • also on conjunctival sclera (see above photo)
    • ocular movement abnormalities (strabismus, nystagmus)
    • cerebellar ataxia
      • dysmetria
      • dysdiadochokinesia
      • hypotonia
  • Serologies
    • AFP
    • ↓ IgA
    • ↓ IgG and IgE
  • Labs
    • ↓ lymphocytes
  • Imaging
    • MRI will show cerebellar atrophy
  • Cerebral palsy
  • Friedreich ataxia
  • Gaucher disease or Niemann-Pick diease
  • Rehab for ataxia
  • For recurrent infections
    • IVIG
    • antibiotics
Prognosis, Prevention, and Complications
  • Prognosis
    • variable rate of progression
    • death often by early adulthood
    • eventually wheelchair-bound
  • Complications
    • recurrent infections
    • risk of malignancy (lymphoma, leukemias)

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