Elevated alpha fetoprotein
- Very rare autosomal recessive condition Chromosome 11q
- A mutation of ATM (AT mutated) gene leads to a defect of DNA repair
- ATM codes phosphatidylinositol-3-kinase related genes
- This is involved in cell cycle control and mutation leads to a defect in DNA repair
- Increased sensitivity to ionizing radiation and Thymic hypoplasia
- There is Cerebellar degeneration and Posterior column loss
- Impaired cell-mediated and humoral Immune problems.
- ↑ Haematological malignancy
- ↑ lung and sinus infections (especially pneumococcus)
- It presents in children aged under 10 years old and
- Patient has apraxia for voluntary gaze - moves head rather than eyes is a very suggestive feature
- Choreiform movements, athetosis, myoclonic jerks
- Skin and conjunctival telangiectasia may be seen
- Sinus/Chest symptoms and infections
- Lymphadenopathy, fevers weight loss may suggest lymphoma
- Hypogonadism and Reduced lower limb reflexes
- B cell /T cell lymphoma and Hodgkin's and Non-Hodgkin's type
- Increased infections, Lung cancer, Breast cancer (in those with a single gene)
- ↑ alpha Fetoprotein and ↓ IgA ↓ IgE ↓ IgG2 ↓ IgG4
- MRI - Cerebellar atrophy with widened cerebellar Sulci and enlargement of the fourth ventricle which progresses with time and may not be obvious early on.
- Prognosis is very poor with death within the early 2nd decade of life.
- Largely supportive
- Genetic counselling