Diagnosis can be
difficult as many of the symptoms can fall into several
categories and as Menkes is such a rare condition, it is not
always thought of.
Symptoms of Menkes do not
usually present themselves until the child is 2 - 3 months
An early diagnosis may be
possible however, if you are already aware of an history of
Menkes in your family, baring in mind it is carried through
the female gene.
At birth, boys with
Menkes appear healthy and normal, including their hair; this
is because they still have copper in their body from the
placenta. As the child turns 2 -3 months of age, the
symptoms of Menkes become more apparent.
The information on this
page reflects the experiences we went through as a family,
and your experiences may not necessarily follow the exact
path, but it will give you some idea of the people you will
Referral from a
Paediatrician at the local hospital to a Consultant
We where then referred to
a Consultant in Inherited Metabolic Disorders who
initially reviewed our family history, including pregnancy,
birth and early infancy, as well as questioning and
examining any medical problems to date with our child.
As a result, we were then
referred to a Consultant Paediatric Neurologist.
There are a number of
tests which can be carried out to confirm the diagnosis
which are listed below:-
Blood test to identify gene sequencing.
Biopsy to enable fibroblast culture to be set up for Copper
Microscopic Examination of your child's hair will show
Other tests can also be
confirm progression of the disease and it's symptoms such as
MRI (Magnetic Resonance Imaging) scans of the brain and
EEG's (Electroencephalogram) to detect abnormal brain
Ultra Sound tests will
highlight other symptoms which may present, such as Bladder
Other tests may include
examining the Copper Levels in the placenta. A thickening of
the Aortic Valve will occur in severe cases, and an x-ray of
the skeleton or skull will indicate Wormian (twisted bones)
and Metaphyseal widening.