Updated: 6/28/2019

Ataxia-Telangiectasia

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Snapshot
  • 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.
Introduction
  • 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 before cell division
      • leads to genomic instability, development of cancers
      • cerebellar degeneration
  • Genetics
    • autosomal recessive
  • To remember: 4A's
    • ATM gene
    • Ataxia (cerebellar defects)
    • spider Angiomas (telangiectasia)
    • IgA deficiency
Presentation
  • 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
Evaluation
  • Serologies
    • AFP
    • ↓ IgA
    • ↓ IgG and IgE
  • Labs
    • ↓ lymphocytes
  • Imaging
    • MRI will show cerebellar atrophy
Differential
  • Cerebral palsy
  • Friedreich ataxia
  • Gaucher disease or Niemann-Pick diease
Treatment
  • 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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Questions (1)

(M1.IM.15.74) A mother brings her 10-year-old girl to the pediatrician for a routine visit. During the visit, the girl comments that recently she has been having difficulty with her balance and has been falling more than usual. She also complains of a rash on her face that has not resolved despite trying multiple over-the-counter treatments (Figure A). The pediatrician is concerned and pursues a full workup during which the patient's alpha-fetoprotein (AFP) level is found to be elevated. Which of the following is the most likely cause of this patient's symptoms? Tested Concept

QID: 106670
FIGURES:
1

Defect in cellular transport

6%

(11/187)

2

Defect in cell surface receptor

5%

(10/187)

3

Defect in actin cytoskeleton function

13%

(24/187)

4

Defect in microtubule function

13%

(25/187)

5

Defect in DNA repair

61%

(114/187)

M 1 B

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