Sunday, February 14, 2016

A 4 Year Old Child Presents With Recurrent Respiratory Infections, Ataxia And Telangiectasia.


This 4 year-old child is presented with recurrent respiratory infections. Parents mention that lately,
he has been falling frequently and walking in strange way.
On examination there are telangiectasia on the bulbar conjuctiva, mucus membranes and skin.

1. What is the most probable diagnosis?
2. Why respiratory infections are more common in this condition?
3. What is oculomotor apraxia?
4. What is the prognosis of this illness?
5. What is its mode of inheritance?

Answers And Discussion:


1. What is the most probable diagnosis?

Answer: Presence of telangiectasia of the bulbar conjunctiva and development of gait problem probably ataxia and recurrent respiratory infections all point to the most probable diagnosis of Ataxia telangiectasia. 
It is a disease characterized by :

  • progressive cerebellar degeneration resulting in ataxic gait, 
  • dysmetria of hands, 
  • slurred speech and 
  • nystagmus.
  • Extra-pyramidal dysfunction is present but there is no pyramidal tract involvement. 
  • There is telangiectasia of bulbar conjunctiva and skin. 
  • Characteristic telangiectasias develop at about 3 years of age, first on bulbar conjunctiva and later on the nasal bridge, malar areas, external ears, hard palate, upper anterior chest, antecubital fossa and popliteal fossa.

2. Why respiratory infections are more common in this condition?

Answer: Recurrent sino-pulmonary infections occur more commonly in these patients because of immunodeficiency (IgA) associated with it.

3. What is oculomotor apraxia?

Answer: In infancy it is noted that such infants cannot move eyes on command but involuntary movements are retained. This condition is known as oculomotor apraxia.

4. What is the prognosis of this illness?

Answer: There is increased likelihood of malignancies, as lymphoma and brain tumors in these children. It is slowly progressive. By adolescence, ambulation is independently not possible. Even mild dementia may be present in the later stage of the disease.

5. What is its mode of inheritance?

Answer: It is transmitted as an autosomal recessive trait due to a mutation in the ATM gene.

1 comment:

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