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Medical report

MARA, age 62 years, residing in Belo Horizonte – MG – Brazil.

The patient has a history of seizures during the past 18 years,


always caused by emotional factors, for which she was treated
initially with hydantoin. The manifestations of her seizures included
hypertonia of the upper and lower limbs, a vague gaze and sialorrhea
(these events were also considered conversion disorder). The patient
has had no seizures for the past 9 years.
The patient is being treated for chronic depression, having
used paroxetin, Prozac (fluoxetin chloridrate) and venlafaxine (which
the patient is currently taking). On March 2006 a diagnosis of
bipolar disorder was made based on behavioral changes (depression
and euphoria), for which venlafaxine (Efexor 150 mg/day) and
Zolpidem (Stilnox 10 mg/day) were prescribed. During the past five
years until January 2007 the patient had taken variable doses of
Rivotril (clonazepam). After symptoms of memory loss began, this
medication was discontinued.
On May 2006 the patient presented sporadic diplopia with no
other associated signs. Retinal mapping and the intraocular pressure
were within normal limits. Magnetic resonance imaging revealed a
“non-specific localized foci of demyelination and/or ischemia in the
right occipital substance, and signs of reduced encephalic volume”.
On August 2006, due to persistence of the symptoms,
myasthenia gravis and multiple sclerosis (among others) were
suspected. Laboratory work-up included the following tests: gama
GT, alkaline phosphatase, transaminases, calcium, T4, TSH, protein
electrophoresis, bilirubins, phosphorus, cholesterol, triglycerides,
serum acetylcholine anti-receptor antibodies and the visual evoked
potential (all within normal limits).
On September 2006 upper limb and facial
electroneuromyography was done (results within normal limits).
Work-up for glaucoma also revealed normal results. A diagnosis of
“ocular myasthenia gravis” was made. The patient was given
Mestinon (pyridostigmine bromide) for 15 days with no
improvement.
On August 2006 the patient presented difficulty in writing and
grammar, progressing rapidly to loss of verbal fluency, difficulty in
carrying out simple tasks and impaired memory; it was still possible
to understand the patient until January 2007. Since November 2006
the patient has been incapable of controlling her finances or carrying
out simple mathematics, and is confused with dates, numbers and
names of objects.
In January 2007 the following tests were done:
• A neuropsychological assessment (signs of depression and
dementia)
• MRI of the brain (result: “diffuse reduced encephalic volume
that is proportional to age and rare small subcortical and
periatrial ovoid images probably perivascular gliosis, with no
clinical significance in her age range”)
• Electroencephalogram (result: “EEG with the patient awake
and in spontaneous sleep, activated by a hyperventilation test;
the test was ABNORMAL, showing mildly disorganized basal
activity”)
• Spinal puncture (VDRL, IgG, investigation of funguses,
cytometry, cytology, glucose, total proteins, investigation for
protein 14-33 (results annexed).
Current diagnostic investigation: Creutzfeldt-Jakob’s disease or
fronto-temporal dementia.
In January 2007 the patient presented episodes of “delirium”
for which medical support was requested (the “crisis” ceased
spontaneously). The patient seemed “lost,” speaking with no
coordination, disoriented in time and space, nervous and with
increased sweating.
In March 2007 the patient underwent cerebral Spect imaging
(result annexed – no image was provided).
In March 2007 the patient was referred to a neurologist, in
Sao Paulo, who requested another electroencephalogram, brain
angiotomography (suspecting vasculitis) and laboratory work-up
(suspecting Hashimoto’s encephalitis). Test results were within
normal limits (results annexed). Another MRI and a spinal puncture
were done on 10 April 2007.
A third electroencephalogram was done on 11 April 2007 at the
request. A thoracic and abdominal computed tomography was done
to investigate a possible tumor (paraneoplasm) (result annexed).
Both were negative.
On 03 April 2007 a panel for paraneoplastic antibodies was
done and sent to the Mayo Clinic in the USA (we do not have access
to the results, however the first tests were negative).
A DNA test for Creutzfeldt-Jakob’s disease has been done for
which the results were also negative.
On 06 March 2007 the patient was unable to answer her
name and age during a psychotherapy session. On 17 April 2007 the
patient was unable to identify my name (her daughter).
A suggested diagnosis of Creuzfeldt-Jakob’s Disease was
made in 2007. Contact has been made with the United States (UCLA
- San Francisco) requesting the thorax and abdomen cat-scan results
as well as the panel for paraneoplastic antibodies results.
We traveled to the United States seeking the assistance of CJD
specialist and his team of doctors/researchers at the University of
California who have taken part in CJD research mainly in the United
States and Canada. All exams which were performed previously in
Brazil were repeated. After one week with my mother there, despite
my mother’s appearance, they formed the opinion that she is above
average (in terms of longevity and clinical condition). They concur
with the diagnosis of CJD both clinically and mainly due to the MRI
scans which are characteristic of those who have CJD. The team
recommended the use of quinacrine.
We then went to Boston looking for another neurologist to
whom we were referred to by a friend here in Brazil. We explained
my mother’s case to him after which he recommended an EEG. We
have not yet received the test results or the doctor’s diagnosis even
after several attempts to acquire them (During the consultation, the
doctor disagreed with CJD diagnosis and suspected frontal-temporal
dementia).
Several days after returning home to Brazil we received notice
that one of the exams performed on my mother in the United States
showed a change. The exam showed an increase in the “voltage-
dependent potassium channel antibodies” which were 10 times
above acceptable levels. This new information gave us new hope
that my mothers diagnosis could actually be limbic encephalitis.
For this reason, in concordance with the doctors in the United States
admitted my mother for 5 days of gamma globulin PULSE
THERAPY and solu-medrol for an additional 5 days. We had
done everything that was requested and yet to our surprise,
my mother’s condition substantially worsened both during her
stay in hospital and after. She remained in hospital for an
additional 15 days due to complications including apnea,
seizures (triggered by fear) and hypersomnia. Hidantal was
recommended to control the seizures. We returned to Belo
Horizonte with Mara being apathetic, under-weight and with
her mobility and speech significantly worse than before.
Treatment began with QUINACRINE (22 July 2007),
DOXYCYCLINA and VERAPIMIL for CJD. On 29 July 2007, we
succeeded in purchasing an American medication (Keppra-
levitiracetan), suggested by the doctors as a substitute for
HIDANTAL (showing significant myoclonus over 4 days). We are not
able to evaluate at the moment if her sleepiness and aphasia are due
to the medications or if she really is becoming worse. According to
the Doctors, there had already been a positive response to the pulse
therapy which peaked 15 days after the initial treatment. Even
before this positive response was detected, there were 3 additional
treatments scheduled (in August and September).
Another Neurologist, performed an evaluation in August. The
continuation of pulse therapy was discussed with other doctors and it
was decided to abandon this line of treatment.
Zyprex and Ebix were prescribed by a psychiatrist who took
over her psychiatric care.
Today she is totally dependant on others. At least two people
are required to assist with almost all tasks. She stays at bed all the
time… She does not recognize people around her and she can not
talk anymore. She can not control some of her bodily functions and
it is necessary for her to wear a diaper throughout the night and day.
She does not complain when she is hungry, thirsty, cold, or in pain.
Her muscles are weak and she has begun physiotherapy. Few month
ago, she needed to do a surgery (sorry, I don’t know the name in
English – maybe “gastrotomy”) to put an direct way to give food
direct to his stomach, because she was very sleepy and having some
trouble to swallow… We also rely on the assistance of the home care
Domiciliary Hospital (24 hour nurse, doctor and physio therapist).

If you can help us, please let us know. We will do everything to save
my mother’s life.

Kindly.

Luiz Gustavo
(son – English speaker)
Luiz.gustavo@tracbel.com.br
55 31 8449.5500