CRI DU CHAT SYNDROME
brain
surgery
or
transplants
from
infected
people,
or
with
treatment
using infected human growth hormone
or
gonadotrophins
.
A third form, new variant (nv) CJD,
was first identified in 1995 and affects
people in their teens and 20s. It is
thought to be acquired by eating beef
infected with BSE. This form causes
pathological changes in the brain that
are sim ilar to the changes found in cat-
tle suffering from BSE.
SYMPTOMS
Symptoms are broadly sim ilar for all
forms of the disease. Slowly progressive
dementia
(deterioration in brain func-
tion) and
myoclonus
(sudden muscular
contractions) occur; coordination dim -
inishes; the intellect and personality
deteriorate; and blindness may develop.
As the disease progresses, speech is lost
and the body becomes rigid.
OUTLOOK
There is no treatment, and death usu-
ally occurs w ithin two to three years.
cri du chat syndrome
A rare
congenital
condition that causes
severe
learning
difficulties,
abnormal
facial appearance, low birth weight,
and short stature. It is characterized by
a cat-like cry in infancy. Cri du chat
syndrome is caused by a
chromosomal
abnormality
.
There is no treatment. (See
also
genetic counselling
. )
Crigler-Najjar syndrome
A rare
genetic disorder
in w hich there is
an absence or lack of the liver enzyme
that breaks down
bilirubin
(the yellow-
ish pigment in the digestive juice
bile
)
for excretion. The condition appears in
early childhood.
Children with
Crigler-Najjar
syn-
drome have jaundice (yellowing of the
skin and whites of the eyes, due to a
buildup of bilirubin in the blood). In
some
children,
the liver
enzyme
is
completely absent, and the condition is
fatal by about two years of age. Some
other children may just have insuffi-
cient amounts of the enzyme, and may
live into adulthood. A
liver transplant
may be the only effective treatment for
the syndrome.
crisis
A term for a turning point in the
course of a disease (either the onset of
recovery or deterioration). The word is
also used to describe a distressing and
difficult episode in life.
crisis intervention
The provision of immediate advice or
help, by agencies such as social services
departments, to people with acute per-
sonal or sociomedical problems.
critical
A term used to mean “seriously ill” or
to describe a crucial state of illness
from w hich a patient may not recover.
Crohn’s disease
A chronic inflammatory disease that
can affect any part of the gastrointesti-
nal tract from the mouth to the anus.
Crohn’s disease can occur at any age,
but people in their mid-twenties are
most likely to be affected.
The most common site of inflamma-
tion is the terminal ileum (the end of
the small intestine where it joins the
large intestine). The wall of the intes-
tine becomes extremely thick due to
continued chronic inflammation, and
deep, penetrating ulcers may form. The
disease tends to be patchy; areas of the
intestine that lie between the diseased
parts may appear to be normal, but are
usually m ildly affected.
CAUSES
The cause is unknown, but genetic and
environmental
factors
seem
to
be
involved. It is possible that the disease
is
caused by an abnormal immune
response to an
antigen
(foreign pro-
tein). Smoking increases the risk, and
worsens the condition once developed.
The risk of developing Crohn’s dis-
ease is higher in people who have a
close relative with the disorder.
SYMPTOMS
In young people, the ileum is usually
involved. The disease causes spasms of
abdominal pain, diarrhoea and chronic
sickness, loss of appetite, anaemia, and
weight loss. The ability of the small
intestine to absorb nutrients from food
is reduced. In elderly people, it is more
common for the disease to affect the
rectum and cause rectal bleeding.
Crohn’s disease can also affect the
colon (the major part of the large intes-
tine), causing bloody diarrhoea. In rare
cases, it also affects the mouth, oeso-
phagus, stomach, and duodenum (the
upper part of the small intestine).
Complications may affect the intes-
tines or may develop elsewhere in the
body. The thickening of the intestinal
w all may narrow the inside of the
intestine so much that an obstruction
occurs (see
intestine, obstruction of).
About
three
in
ten
affected
people
develop a fistula
(abnormal passage-
way).
Internal
fistulas
may
form
between loops of intestine. External fis-
tulas, from the intestine to the skin of
the abdomen or around the anus, may
cause leakage of faeces (see
faecal fistula
) .
Abscesses (pus-filled pockets of infec-
tion) form in about one in five people.
Many abscesses occur around the anus,
but some occur w ithin the abdomen.
Complications in other parts of the
body may include inflammation of var-
ious parts of the eye, severe arthritis
affecting various joints of the body,
ankylosing spondylitis
(an inflammation
of the spine), skin disorders, liver dis-
ease, and
gallstones
.
DIAGNOSIS
A physical examination may reveal ten-
der abdominal swellings that indicate
thickening of the intestinal walls.
Sig-
moidoscopy
(examination of the lower,
or sigmoid, colon and the rectum with
a viewing instrument) may confirm the
diagnosis. X-rays using barium follow-
through or barium enemas (see
barium
X-ray examinations
)
w ill show thickened
loops of intestine w ith deep fissures.
It may be difficult to differentiate
between Crohn’s disease when it is
affecting the colon and
ulcerative colitis
,
an inflammatory bowel disease limited
to the large intestine. However,
colon-
oscopy
(examination of the colon using
a
flexible
viewing
instrument)
and
biopsy
(the removal of a sample of tis-
sue for microscopic examination) can
confirm the diagnosis.
TREATMENT
The aim of treatment is to bring about
long-term remission of the disease. It
may involve high doses of
corticosteroid
drugs
,
w hich are given either orally or
intravenously;
the
immunosuppressant
drugs
azathioprine or mercaptopurine;
metronidazole; and also
enteral feeding
,
in w hich easily digestible food in liq -
uid
form
is
given
through
a tube
directly into the intestines. Once the
disease is in remission, normal feeding
can
be
resumed
and
the
dose
of
corticosteroids reduced. Aminosalicy-
late
drugs,
such
as
sulfasalazine
or
mesalazine
,
may be given.
Surgical treatment to remove dam-
aged sections of the intestine is avoided
whenever possible because the disease
may recur in other parts. Many patients
do need surgery at some stage, how-
ever,
to
treat
problems
including
perforation or blockage of the intestine.
204
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