IMPORTANT DRUG INFORMATION
Metronidazole (also known as Flagyl®
or Metrolyl®) may cause acute liver
failure in children with Cockayne
syndrome and should be avoided.
Please alert your doctors to this.
Health professionals can obtain
further information from Dr. Brian
Any further drug reactions in this
patient group should be reported to
the regulatory authorities in your
About Cockayne Syndrome
Cockayne syndrome (CS) is a rare
disorder, characterised by small
stature, microcephaly (having a
small head) , developmental delay
and premature pathological ageing.
It is caused by mistakes in one of
two genes: CSA (also called ERCC8)
or CSB (also called ERCC6). In order
to develop CS, an affected
individual must have mistakes in
both copies of one of these genes.
In most cases, each parent will be a
carrier for the condition (i.e. they
have a mistake in one of their
copies of the gene). This is
described as recessive inheritance
and means that there is a 25% chance
that any children the couple have
will be affected by CS.
Cockayne syndrome is a
variable condition, making early
diagnosis difficult. Birth weight
and head circumference are often
normal, as is early development.
Reduction in how fast an affected
child grows, leading to small
stature with a disproportionately
small head (microcephaly), may be
the first clue to the diagnosis.
After the age of 12 months,
development is often delayed. Other
clinical problems in CS include
hearing loss (of any type, but
affecting both ears), cataracts,
visual impairment due to retinal
degeneration, tremor, walking and
balance problems (ataxia), joint
contractures, progressive loss of
body fat and abnormal sensitivity of
skin to sunlight. Affected
individuals may not experience all
of these features. Children with CS
can look completely normal early in
life, but many develop a sunken
appearance to their eyes, and some
have facial features (eyes and nose)
that appear a little closer together
than expected (described as crowded
child has CS, it is important to be
aware that they should not be given
metronidazole (a type of
antibiotic), as this causes liver
failure in affected individuals and
can be fatal.
syndrome is a progressive and
incurable condition, with a mean age
at death of 8.4 years. The
development of early cataracts
(under 3 years) is the most
significant indicator of how a
patient is likely to progress.
Approximately 60% of patients with
early cataracts survive to 5 years;
for those who have no cataracts or
develop them after 3 years of age,
survival at 5 years is approximately
95%. However, there can be
considerable differences between
affected members of the same family,
making it difficult to predict long
term outcomes in CS.
more detailed information on
Cockayne syndrome, including
guidelines for care, please see this
publication which is available
open access through the generosity
of the Amy and Friends Cockayne
syndrome support group.