Version 4.

CASE 10

Peter is twelve years old and has a long history of different medical issues. He is now admitted
to hospital in one more attempt to find the correct diagnosis; his parents accompany him. You
are the doctor performing the clinical examination and history taking. In advance, you have
thoroughly read Peter’s comprehensive medical journal: Neonatally, Peter was in rather poor
condition with clear signs of hypotonia, which caused assisted ventilation for some days.

At the age of five he started to find it difficult to run and his gait showed clear signs of
unsteadiness. At the age of eight, attacks of spasms in larger muscles were noted and from
age nine he developed epilepsy. This was rather well controlled with antiepileptic drugs.

Peter started to have problems in school and he now receives special needs education.

In the past year he has developed problems with both vision and hearing.

1. What are your diagnostic considerations?

Peter has two older siblings, Johan and Søren; they both have impaired hearing.

Peter’s father is healthy and there are no apparent diseases in Peter’s father’s family.

Peter’s mother, Susanne, has impaired hearing. Susanne’s parents, Maren and Jens, are
healthy apart from age-related ailments.

Susanne has three older siblings – Hans, Mette and Anders; Hans is the oldest and Anders is
the youngest.

Hans has impaired hearing and apparently a kind of heart disease. Hans has two daughters:
Henriette and Bodil who are both healthy.

Mette Has impaired hearing. Mette has no children.

Anders has impaired hearing although with a later debut than his siblings. Anders also has
diabetes, increasingly poor vision and has undergone double bypass heart surgery. He gets
tired very fast and has difficulties completing a 2-3 minute walk or bike test. He has two
daughters, Lise and Jane who are both healthy.

2. Draw the pedigree.

3. Which diagnostic examinations are relevant?

Institut for Klinisk Medicin – Klinisk Genetik

Revideret 14.09.2018