Case Study 1
Subject: The patient is a 34-year-old right-handed woman, with no relevant medical history, who complains of tremor in her right hand since 3 years ago. She is referred from neurology outpatients clinic to NeuroTREMOR Clinic.
History of present illness: The patient states that 2 to 3 years ago she started noticing tremor in her right thumb that initially was limited to that finger but has progressively expanded to affect the whole arm. She does not notice tremor in other parts of her body until last year when she noticed tremor in her right leg for some days but this sensation has stopped.
She also tells us that her tremor increases with rest but she also notices tremor when she uses that hand to eat, drink or write, this is the reason why her family physician has prescribed her propranolol that has not been very effective.
Lately she has felt clumsiness and a sensation of lose of strength in right arm. She is very worried because the tremor is more evident, she is embarrassed because of it and lately she feels fatigue when performing activities with that arm.
Past medical history: Kidney stones with pain at age 26 Medications:No medications currently taken Allergies:Penicillin and arginine. Social history:The patient lives with her couple and has worked as a medical receptionist for some years. Actually she is unemployed. She denies tobacco or illicit drug use and rarely drinks a glass of wine. Family history: Grandmother in paternal side diagnosed with essential tremor, cousin in her father side with restless legs syndrome. Review of systems: Non relevant. General physical examination: The patient is obese but well-appearing. Temperature is 37.6, blood pressure is 128/78, and pulse is 85. There is no proptosis, lid swelling, conjunctival injection, or chemosis. Cardiac exam shows a regular rate and no murmur. Neurologic examination Mental status: The patient is alert, attentive, and oriented. Speech is clear and fluent with good repetition, comprehension, and naming. She recalls 3/3 objects at 5 minutes. Cranial nerves: CN II: Visual fields are full to confrontation. Fundoscopic exam is normal with sharp discs and no vascular changes. Venous pulsations are present bilaterally. Pupils are 4 mm and briskly reactive to light. Visual acuity is 20/20 bilaterally. CN III, IV, VI: At primary gaze, there is no eye deviation. Normal ocular movements. Pupils symmetric and reactive. CN V: Facial sensation is intact to pinprick in all 3 divisions bilaterally. Corneal responses are intact. CN VII: Face is symmetric with normal eye closure and smile. CN VII: Hearing is normal to rubbing fingers CN IX, X: Palate elevates symmetrically. Phonation is normal. CN XI: Head turning and shoulder shrug are intact CN XII: Tongue is midline with normal movements and no atrophy.
Motor: There is no pronator drift of out-stretched arms. Muscle bulk and tone are normal. Strength is full bilaterally.
Deltoid | Biceps | Triceps | Wrist extension | Finger abduction | Hip flexion | Hip extension | Knee flexion | Knee extension | Ankle flexion | Ankle extension | |
L |
5 |
5 |
5 |
5 |
5 |
5 |
5 |
5 |
5 |
5 |
5 |
R |
5 |
5 |
5 |
5 |
5 |
5 |
5 |
5 |
5 |
5 |
5 |
Reflexes: Reflexes are 2+ and symmetric at the biceps, triceps, knees, and ankles. Plantar responses are flexor. Sensory: Light touch, pinprick, position sense, and vibration sense are intact in fingers and toes. Coordination: Fine finger movements are intact. There is no dysmetria on finger-to-nose and heel-knee-shin. Romberg is absent. Gait/Stance: Posture is normal. Gait is steady with normal steps, base normal, arm swing slightly diminished in right side, turning normal. Heel and toe walking are normal. Tandem gait is normal when the patient closes one of her eyes. Extrapiramidal exam: Slight postural tremor with arms outstretched, that increases with weights and tasks. Rest tremor in right hand that increases with distraction. Rapid alternating movements slightly impaired in right hand, finger tapping slower in rigt hand. No rigidity in passive movements of arms and legs. Laboratory Data: - Blood tests: blood cells count normal, blood lipidic profile normal, thyroid hormones normal, cu in serum and urine normal, ceruloplasmine normal. - EMG: No evidence of neuropathy, normal motor pattern. - MRI: 3 Multi-focal areas of increased signal on T2 and FLAIR in the deep white matter bilaterally. These range in size from 1 to 10 mm and do not enhance after administration of gadolinium. No pathological meaning. There are no signal abnormalities in the brain stem or in the corpus callosum. No abnormalities in orbits, sinuses, or venous structures. - DAT scan: SPECT of basal ganglia with significant decrease of the capitation and density of pres synaptic receptors in both striatal areas with a severe impairment of bilateral putamen and left caudate. Initial Assessment: In summary, the patient is a 34-year-old woman with longstanding tremor in right hand that is present initially just in postural tasks but recently is also present in rest and accompanied by clumsiness and slight rigidity of the right arm. The patient does not fulfil all the criteria for Parkinson's disease diagnosis at the moment and because of her age it is not very probable. Her postural tremor does not respond to treatment with propranolol, she complains of clumsiness of recent start in right arm. There are not relevant findings in MRI and routine workout. She was screened for Wilsons disease and was negative. Plan: Patient was included in NeuroTREMOR Study for tremor assessment and treatment with afferent stimulation.
Hospital Based Platform Evaluation Patient code: TP01 Weighted voting diagnose: PD Weighted voting diagnostic certainty: 68,4%
Clinical diagnose & comment: Neurologists were not able to establish a clear diagnosis based on clinical observation. As a result the patient was classified as ETPD (not clear diagnosis). After indications of the platform that the patient could have PD, she was treated with Levodopa with a positive response. She might be a juvenile PD. Neurologists perform a DaTscan, which is positive for PD.
NeuroTREMOR hospital based platform indicated that this patient (code TP01) has a higher probability of suffering Parkinson Disease than Essential Tremor. This is important because her familial history indicates that she could be more prone to have Essential tremor. Based on clinical observations, neurologists were not able to establish a clear diagnosis to her, she as classified as ETPD and went through NeuroTREMOR platform, which indicated that she is probably a Parkinsonian patient. Based on this information, neurologist started treating her with Levodopa, with a positive response. This enhanced the probability of she having Parkinson. Patient did a DaTscan, which confirmed her diagnosis as Parkinson. It is important to highlight the ability of the platform to identify the pathology before clear clinical symptoms, which was later confirmed by DaTscan trial.
Conclusion The hospital based NeuroTREMOR platform was very useful in this patient because she was not the typical Parkinson´s patient, so the diagnosis presented some doubts above all due to the postural component of her tremor. She had been receiving treatment for essential tremor for last 2 years with no effect. After NeuroTREMOR diagnosis, a treatment based on levodopa was started. At the beginning the patient was reluctant to take the medication due to gastro intestinal symptoms as a reaction to levodopa. She was closely monitored (showing the relevance of telemedicine system proposed in NeuroTREMOR for medication monitoring). Once the patient reached regular Levodopa doses (around 750mg), she had a great improvement in her general fatigue symptoms and her tremor reduced to almost 0 in some moments of the day. After some months, we received the results of DaTscan that confirmed the results of NeuroTREMOR hospital based platform diagnosis, which was able to predict in advance the symptoms of Parkinsonism's in this patient.