The following has been give to me to post as we are running out of
options. Any comments can be sent via email to: icr at island.net
Thanks in advance,
Ian and Brenda.
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In October of 1994, Kathy Rhein was admitted into U.B.C. Hospital in Vancouver, B.C. Most of
this information about to be given is in their discharge report.
The patient is a 28 year old woman who presents a 3 year history of progressive frontal lobe
dementia. She is right handed.
Approximately 3.5 years ago the patient and her family began to notice symptoms of difficulty
speaking. At one time the patient stated " I can think the words but can't speak them." She
had difficulty speaking on the phone in her job as a receptionist because those listening to
her were not able to understand her. Her family noted that her speech became slurred. She
subsequently developed slowing of her speech, mental functions and motor activity. Her
symptoms appeared to get worse during her third pregnancy. The family noted some improvement
after the pregnancy and then a subsequent acceleration of her decline during her fourth
pregnancy which resulted in a healthy baby 1 year ago. Over the past year there has been
a progressive decline.
She has increasing difficulty managing her household activities and caring for her children.
She is now unable to do any of this. Also noted by the family is a loss of inhibition with
scrathing groin and undressing at inappropriate times. Her personal hygiene which used to
be meticulous has also deteriorated. Her ability to spesk has deteriorated completely.
She was able to comunicate by writing on paper, and now can only write her own name. There
has also been increased crying.
Occasionally she chokes on liquids and solids, and it seems to be progressively getting worse.
Of late she has been incontinent at times. She can obey simple written sentences and she also
obeys verbal commands to varying degrees and with variable delay up to 5 minutes for a response.
Her past medical history includes a precipitous delivery ay 36 weeks but no complications from
pregnancy were noted and she had a good cry immediately after delivery. She had normal
development and walked at 1 year and talked at 18 months of age. She was above average in
school and preformed sports appropriate for her age. At age 2.5 she developed seizers and
drop attacks. One attack was noted to be focal or complex partial involving right motor system. She was treated with phenobarb and Dilantin until age 10 with very few seizures, at which time she was taken off her medications. At age 12 she had several spells where she dropped dishes and momentarily appeared to lose her awareness which quickly recovered. At age 12 she was treated again with phenobarb and Dilantin for roughly 1.5 years when it was terminated by her family with no further seizure activity. She has had a tonsillectomy. She has had four normal children by vaginal deliveries with no complications. She had chickens pox at age 17 months and an undiagnosed rash and fever somewhere between ages 4 and 8.
She is on no medications, has no medication allergies and quit smoking 4 years ago. She had
moderate alcohol intake up to 2 beers a day.
Her family history is unremarkable except for some asthma and TypeII diabetes in her parent's
generation. She does have a third cousin with onset of neurological problems at age 2
subsequently diagnosed to have ceriod lipofuscinosis.
Social history of this patient includes working as a secretary and receptionist until roughly
2 years ago when the dysarthria stopped her. Currently she lives with her parents who care for
her and her four children. Her husband works and also lives with them. They are receiving some
help from a homemaker.
Reveiw of systems revealed some weight loss over the past few months and that the patient is
now unable to feed herself.
During the interveiw the patient was watching the conversation I had with her parents and
would occasionally break into tears, not always in the context of emotionally charged subjects.
She would laugh at the jokes along with her family. There was no verbal output. Her mental
status was difficult to access but she was occasionally able to obey 1 step commands. She
moved very slowly and delierately. She was able to put on a housecoat and do up a bow on the
housecoat. She cooperated with the exam to some degree but could not follow motor power testing
General exam revealed some facial acne but no nodes or thryomegaly. Chest was clear with
normal breasts. There was no hepatosplenomegaly. Heart sounds were normal with no murmur.
Her neck was supple with some increase in axial tone. There was no pes cavus.
Examination of the central nervous system revealed pupils to be equal and reactive to light
with normal funduscopy and feilds grossly full. Her extraocular movements were extremely slow.
She was unable to saccade voluntarily to command. She was able to attend to peripheral stimuli
with very slow saccades to the latteral feilds. She would also use her head to turn to the
peripheral field and drag her eyes over and then fixate and realign her head. Smooth pursuit
was okay in all directions of gaze and no restriction of range was noted. There was no
nystagmus or square wave jerks. Fifth cranial nerve revealed avery brisk jaw jerk and
bilaterally symmetrical and present corneal reflexes. She had demonstrated all frontal release
signs including a positive glabellar tap, a snout, a suck, palmomental reflex and a grasp
reflex. Cranial nerves 7 to 12 appeared normal.
Her motor exam revealed spastically imported paratonia throughout and a few beats of clonus
at her ankles. She had bilatteral brisk Hoffman's reflex and reflex spread when her deep
tendon reflexes were elicited. Deep tendon reflexes were 4+ throughout except 3+ at the
ankle. Both appeared normal and power was 4-5 in the proximal muscles in a pyramidal
During the admission the patient had intermittently positive Babinski response.
She also had lesser pyramidal weakness in the distal musculature.
She responded to minor painful stimuli of all her limbs. Coordination was assessed with
the finger/nose test which was well performed and accurate. She had very slow alternating
movements. Her stance was normal with negative Romberg sign. Her gait was narrow- based and
did not appear spastic.
PREVIOUS INVESTIGATIONS AT OTHER HOSPITALS:
Two years ago the patient was investigated by Dr. Robert Keyes at Shaughnessy Hospital. At
that time her main problem was dysarthria with no associated neurological symptoms. At that
time a double dose CT head scan was performed which detected no abnormalities except a slightly
large fourth ventricle. An MRI did not demonstrate any abnormality. Her EEG was normal. Visual
evoked potentials were normal bilaterally. Brain stem auditory evoked responses were also normal
As well, somatosensory evoked responses in all four were normal. Her routine blood work and
ESR were normal. Her PTT was 27.9. B12 was 171. Liver enzymes were normal. Serum protein
electrophoresis was normal.
She was also evaluated in February 1994 at Royal Jubilee Hospital in Victoria. At that time
she was very dysarthric with spastic slow speech. Noted was the fact that there was no
spontaneous speech and that she answered questions with single words. She also seemed to
have word finding difficulty. She had mild proximal weakness of her arms and she had brisk
deep tendon reflexes in her legs with an extensor plantar response on the right and equivocal
left plantar response.
Chest x-ray was performed which normal. Modified barium swallow did not show any reflux in
the trachea but she did have some reflux of barium in the upper esophagus back of the
hypopharynx. An MRI examination compared to the one 1 year previously did not show any
interval change and read as normal as well. She had a muscle biopsy performed in Vancouver
looking for mitochondrial disease. This was reported as mildly abnormal with a few atrophied
muscle fiber noted. The electron microscopy was normal and there were no ragged red fibers.
INVESTIGATIONS PERFORMED DURING THIS ADMISSION:
The patient had a bone marrow examination which was normal and no foamy macrophage noted. An
EEG showed low voltage with frontal slowing and no periodic discharges of prion disease noted.
An MRI was attempted but the patient was unable to lie still despite sedation. A skin biopsy
was performed to look for ceriod lipofuscinosis. She had a neuro-ophthalmology assessment that
revealed no Kayser- Fleischer rings and no retinal changes. It was felt that her eye movement
disorder was a gaze apraxia. Routine blood work was normal. ESR was 4. ANA was negative.
Lactate1.2. Ceruloplasmin 218, slightly below normal range. Copper from blood and urine are
pending. Lead is pending. Screen of urine and serum amino acids is pending.
Urineoligosaccaride also pending. Results of her somatosensory evoked potentials and visual
evoked potentials are pending.
The patient was seen by Dr. Lorne Clarke from Genetics who questioned the diagnosis of
ornithine transcarbamoylase deficiency to the history of worsening during pregnancy. The
best screening test is serum ammonia after a protein load and this has been sent and is
pending. If this test is abnormal it should be repeated with an allopurinine challenge which
will be arranged by Dr. Feldman or Dr. Hurwitz.
The patient was also seen in consultation by Dr. Calne but he had not seen a patient with
this pnenotype before. He suggested an ophthalmological exam and skin biopsy. These have been
In summary at the present time the patient remains undiagnosed. None of the consultants
involved with this case have ever seen a patient quite like Mrs. Rhein. We have many
investigations whose results are still pending. These should all be back when the patient
visits with Dr. Hurwitz in a month's time. If we still do not have a diagnoses at that time
and no further investigations have been recommended by the consultants involved in the case,
the question of brain biopsy is to be considered.
Also, Mrs.Rhein has tried many natural medicines and some alternative medicines, such as
accupressure, body cleansing(bowels) with no dairy products, wheat, sugars, salts, etc. No
noticable difference was noted.Mrs.Rhein also, just recently, was in Victoria to see an
Intestinal specialist who seemed quite shocked at the sight of Mrs.Rhein. The doctor
prescribed her on Q10, Folic Acid, Vitamin C, and Niacin. We have been treating this to her
for 1 month. She seems to have gained 6 pounds and we have noticed a very slight difference.
Our family would appreciate any knowledge or information that anyone is willing to share with
us. We are feeling quite desperate, as we lack any medical knowledge ourselves.
THANK YOU VERY MUCH FOR YOUR TIME IN READING THIS REPORT.