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Visual disturbances of unknown etiology

A 43 years old woman man who presented with various symptoms consisting of visual disturbances, burning sensation in the eyes, headache, hypersensitivity to noise and dizziness. Repeated neurological examinations were reported normal. A thorough neurological work-up that included blood tests, brain MRI, EEG and echocardiography was normal.
 

Psychomotor retardation due to spinal amyotrophy

10 months old, female. After normal birth (at the 40th week of pregnancy) and neonatal period, started to suffer from gastroesophageal reflux and recurrent respiratory infections, at times with broncospasm. In addition, psychomotor retardation was found and the young patient was assessed by a neurologist. The tests run (EMG and genetics for SMA) pointed to the diagnosis of Spinal Amyotrophy.
After hospitalization due to catarrhal bronchitis, the patient was discharged in good general conditions with recomendations for respiratory physiotherapy and neurological rehabilitation.

Motor Neuropathy – additional opinion

53-year-old male with lower motor neuropathy affecting all 4 limbs. The neurologic examination showed left limb hyposthenia, left upper limb hypotrophy and diffuse fasciculations. The patient was diagnosed with “suspect motor neuron disease" and was treated with IVIG cycles with slight initial improvement, but later lack of response and worsening of the clinical condition.

Multiple Sclerosis_2

21-year-old female with an acute onset of a unilateral sixth cranial nerve deficit. Brain MRI showed at least a dozen white matter lesions, one of them contrast-enhancing. Sensory evoked potentials showed a bilateral increase in latency. Multiple sclerosis was diagnosed, and the patient was treated by corticosteroids, followed by improvement of symptoms. The first follow-up revealed no focal neurological signs with a history of a transitory unilateral lower limb hyposthenia. On the second visit, a horizonto-rotatory nystagmus and irregular paraesthesia in the right toes are documented.

Guillain-Barré Syndrome / Acute Myeloradiculoneuritis

45-year-old male who presented with acute onset of flaccid paraparesis more pronounced on the left, sensation of current shocks in both legs and sensory level from the umbilicus downwards. The symptoms have reached their pick within less than a day. On examination the left lower limb was plegic and the right lower limb was partially weak. EMG was interpreted as demyelinating sensorimotor neuropathy. MRI showed hyperintense signals at the dorsal terminal segment of the marrow consistent with myelitis.

Motor Neuron Disease – another opinion

72-year-old female developed progressive dysarthria and dysphagia. Her doctor describes her speech difficulty as “Spastic dysarthria with slow and nasal speech" and noticed decreased mobility in the tongue and palate. She underwent multiple investigations and started Rilutek. Since there is no biologic marker for ALS, the expert suggests further testing that is focused on trying to rule out other disorders and show diffuse lower motor neuron involvement

Possible Anorexia, Vomiting, Failure to Gain Weight and Linear Growth Retardation

21-month-old female who was born at almost 29 weeks weighing only 650g and with birth height of 31 cm. Her major problems have been poor feeding, failure to gain weight and linear growth retardation. The poor feeding has been handled by an NG tube and subsequently, food administration through a direct gastric tube via a gastrostomy. She gradually gained weight to the extent of being overweight for her height. Laboratory evaluation revealed low absolute numbers of neutrophils low lymphocyte count. Endocrynology and Genetics workup were normal.

Feeding problems, vomiting and short stature in prematurely born child

The patient is a 21 month old female who was born prematurely (at almost 29 weeks) weighing only 650g. She was released after 3 months from NICU, when she was 41 weeks old, weight 2kg. Her parents did not have any problems till she was 5 months old. Her major problems since have been: poor feeding, failure to gain weight and linear growth retardation. The poor feeding has been handled by an NG tube and later, food administration through a direct gastric tube via a gastrostomy.

Motor Neuron Disease

71-year-old female developed progressive dysarthria and dysphagia. Her doctor describes her speech difficulty as “Spastic dysarthria with slow and nasal speech" and noticed decreased mobility in the tongue and palate. She underwent multiple investigations and started Rilutek. The differential diagnosis of isolated swallowing and speaking difficulties include: Early motor neuron disease, Cranial neuropathies, Myopathies, Neuromuscular junction disorders and Neurodegenerative movement disorders.

Back Pain with Partial Sensory Leg Anesthesia

25-year-old male had an outbreak of sharp pain in the loin, and afterwards complained of partial sensory anesthesia in his leg. He has been given prescribed treatment that included blockades, magnetotherapy, and ultrasound massage with hydrocortison. He experienced back pain for the first time after lifting a heavy thing, and got a pain relief after taking a pain-killer and applying Finalgon ointment. After few months the pain reoccurred. The patient then got a MRT test and was prescribed Finalgon and Milgamma pills, but developed an allergy towards Milgamma.

Cluster headache

A 40 years old female has been suffering from cluster headache for the last 20 years. For the last 1.5 years it has been transformed from an episodic form to a chronic one. The patient reports an episodes of vertigo, for which she carried out otorhinolaryngology examination and brain NMR. On NMR was detected a periventricular lesion of about 1.2 cm, without mass effect. This lesion was probably present also 4 years ago, when the patient underwent another NMR.

Cervical Dystonia – additional opinion

47-year-old female with neck problems underwent Blink Reflex tests and EMG of the neck, and was diagnosed with cervical dystonia. Medical treatments available for cervical dystonia include anticholinergic therapy, Baclofen, or deep brain stimulation, but the mainstay of therapy remains botulinum toxin injections, which are considered the superior treatment for symptom control with less side effects in comparison to oral medications.

Motor Neuron Disease – additional opinion

71-year-old female developed progressive dysarthria and dysphagia. She underwent multiple investigations and started Rilutek. Her EMG study does not meet published criteria for the electrophysiologic diagnosis of motor neuron disease. In the expert's opinion, a definite diagnosis is not possible at the present time, and there would be utility in repeating clinical and electrophysiologic testing. The expert also recommends to perform pulmonary function testing.

Demyelinizing Disease

47-year-old female with a diagnosis of Multiple Sclerosis ,who suffers from progressive tetraparesis, more pronounced in the lower extremities. Her treatment included mitoxantrone and Interferon-beta treatment, both were discontinued because of side effects. Her movement difficulties, due to the left lower limb rigidity, are increasing progressively.

Cervical Dystonia

47-year-old female with a 4-year history of cervical dystonia. She has been treated with botulinum toxin injections which were ineffective for her. In the expert's opinion, the success of Botulinum toxin in cervical dystonia depends on a thorough clinical assessment, exact targeting of the chosen muscles, and adequate doses of toxin injected. The expert also suggests additional or alternative treatment strategies: medical treatment by different oral drugs, or deep brain stimulation of the globus pallidus interna.

 

Facial pain after thyroidectomy

A 47 years old female underwent total thyroidectomy for papillary carcinoma of the thyroid, followed by treatment with radioactive Iodine (I131).
Since then, the patient has been suffering from severe facial pain (left>right), dry mouth and recurrent local infections. She was diagnosed with bilateral sialadenitis, and was repeatedly treated with endoscopy and repeat washing. Medical treatment for neurogenic pain wasn't helpfull, as well as visits to different salivary gland specialists.