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