Ataxia teleangiectatica G11.3

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

cerebello-oculocutaneous telangiectasia; Louis Bar Syndrome; telangiectasia cerebello-oculocutaneous; Teleangiectasia-Ataxia Syndrome

History
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Syllaba and Henner, 1926; Louis-Bar, 1941

Definition
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Autosomal-recessive inherited, radiation-sensitive chromosomal break syndrome with cerebellar ataxia, ocular telangiectasia, increased alpha-fetoprotein, T-cellular immune defect and risk of neoplasia (see below immune defects, T-cellular, primary).

Etiopathogenesis
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Genetically heterogeneous, autosomal-recessive inherited clinical picture (5 complementation groups known so far). Mapping of AT-A and AT-C on chromosome 11q23 in the region of important genes for T cell function (CD3, THY1, NCAM) with consecutive disruption of phosphatidylinositol-3-kinase. Pathogenetically unclear; the genetic defect causes increased radiation sensitivity, Cave! Iatrogenic tumor induction in extensive X-ray diagnostics. Recombination defect during T-cell maturation?

Manifestation
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Early childhood, predominantly 4th-8th LJ.

Localization
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Head: Conjunctival, nose, cheeks, auricles and neck; also elbows, hollow of the knees, back of the hands and feet.

Clinical features
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  • Integument: Canities (premature graying); hirsutism, keratosis follicularis; seborrheic eczema. Teleangiectasia, ephelioid hyperpigmentation, varioliform atrophy of the face.
  • Neurological: Progressive cerebellar ataxia, trunk and extremities affected; oculomotor apraxia, typical sloping shoulders, head tilt to one side, general muscle weakness, dysarthritic speech, strabismus, nystagmus, peripheral neuropathy, lack of tendon reflexes. In CT: Brain atrophy; mental retardation in about one third, usually not clearly pronounced before the age of 10.
  • Immunological: Reduced cellular immune defence (IgA deficiency) leads to reduced resistance to infections with recurrent bacterial infections, especially of the maxillary sinuses and lungs. Hypoplasia or agenesia of the thymus, hypoplasia of the lymphatic tissue.

Laboratory
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Decrease in serum immunoglobulins. Lymphopenia, reduced IgA and IgE; in women ovary, in men testicular insufficiency or aplasia. Genetic laboratory findings: Increased chromosomal fragility; characteristic clonal translocations between the T-cell receptor loci on chromosomes 7 and 14; greatly reduced stimulability of T-lymphocytes. Cell cycle block in the G2 phase characteristic of peripheral mononuclear blood cells after in vitro X-ray irradiation (1.5 Gy) as an expression of increased radiation sensitivity; increased alpha-fetoprotein.

Diagnosis
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X-ray of the thorax: thymus hypo- or aplasia; pneumo-encephalography: cerebellar atrophy.

Differential diagnosis
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Hartnup syndrome, brain tumor.

Therapy
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Symptomatic, infection prophylaxis with broad-spectrum antibiotics, genetic counselling.

Progression/forecast
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Life expectancy shortened by a tendency to infection or malignancy development. Premature death, usually between the ages of 20 and 30; maximum survival is about 50 years. Body growth and intelligence reduced.

Literature
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  1. Louis-Bar D (1941) Sur un syndrome progressif comprenant des télangiectasies capillaires cutanées et conjonctivales, à disposition naevoide et des troubles cérébelleux. Confin Neurol 4: 32-42
  2. McKinnon PJ (1987) Ataxia-teleangiectasia: an inherited disorder of ionizing-radiation sensitivity in man. Progress in the elucidation of the underlying biochemical defect. Hum Genet 75: 197-208
  3. Perlman S et al (2003) Ataxia-telangiectasia: diagnosis and treatment. Seminar Pediatrics Neurol 10: 173-182
  4. Seyschab H et al (1992) Simultaneous measurement of radiosensitivity and defective mitogenic response in Ataxia telangiectasia and related syndromes. Eur J Pediatr 151: 756-760
  5. Syllaba L, Henner K (1926) Contribution a l'independence de l'athetose double idiopathique et congenitale. Rev Neurol 1: 541-562
  6. Takagi M et al (2004) Identification and characterization of polymorphic variations of the ataxia telangiectasia mutated (ATM) gene in childhood Hodgkin disease. Blood 103: 283-290

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Last updated on: 29.10.2020