S. Budrewicz

Parry–Romberg syndrome: clinical, electrophysiological and neuroimaging correlations

Parry–Romberg syndrome (PRS) is a rare disorder, described in the nineteenth century by Caleb Parry and Moritz Romberg, characterized by acquired and slowly progressive atrophy of one side of the face. The pathogenesis of PRS is still unclear. Immune-mediated processes are thought to be a basic factor in PRS etiology, but autonomic nervous system might also be impaired. A case of PRS in a 26-year-old woman with coexisting disturbances in the lower left limb is presented. The multimodal electrophysiological studies were done, including electroencephalography, visual, brain auditory, somatosensory and trigeminal somatosensory evoked potentials, blink reflex, standard neurographic and electromyographic examinations, quantitative sensory tests and autonomic tests. Neuroimaging studies consisted of brain MR, single voxel proton MR spectroscopy, diffusion tensor imaging with fiber tractography. Based on multimodal electrophysiological and neuroimaging studies, it was concluded that the impairment in PRS is multisystemic, i.e., motor, sensory, and autonomic. A cortical origin of the symptoms is possible.

The possible meaning of fractional anisotropy measurement of the cervical spinal cord in correct diagnosis of amyotrophic lateral sclerosis

Diagnosis of amyotrophic lateral sclerosis (ALS) is based on clinical criteria and electrophysiological tests (electromyography, and transcranial magnetic stimulation). In the search for ALS biomarkers, the role of imaging procedures is currently emphasized, especially modern MR techniques. MR procedures were performed on 15 ALS patients and a sex- and age-matched control group. The MR examinations were performed with a 1.5-T MR unit, and the protocol consisted of sagittal T1-weighed images, sagittal and axial T2-weighed images, and sagittal T2-weighed FAT SAT images followed by an axial diffusion tensor imaging (DTI) sequence of the cervical spinal cord. FA values in individual segments of the cervical spinal cord were decreased in the ALS group in comparison with the control group. After comparing FA values for anterior, posterior, and lateral corticospinal columns, the greatest difference was observed between the C2 and C5 segments. Spinal cord assessment with the use of FA measurements allows for confirmation of the motor pathways lesion in ALS patients. The method, together with clinical criteria, could be helpful in ALS diagnosis, assessment of clinical course, or even the effects of new drugs. The results also confirmed the theory of the generalized character of ALS.

Profile of autonomic dysfunctions in patients with primary brain tumor and possible autoimmunity

OBJECTIVEnCerebral lesion due to different neurological conditions could be complicated by autonomic dysfunction, reported in the literature as a sympathetic hyperactivity. The mechanisms of dysautonomia still remains partial. The aim of the study was to assess the profile of autonomic dysfunction in patient with primary brain tumors, with attempt to estimate the additional factors in pathogenesis of dysautonomia.nnnMATERIAL AND METHODSnNeurological examinations, the Lows autonomic disorder questionnaire, electrophysiological autonomic tests (Heart Rate Variability test at rest and during deep breathing, spectral analysis of R-R intervals, sympathetic skin response test), studies of peripheral nerves, blood sampling collection for antibodies were done in 33 patients with recognized primary brain tumors.nnnRESULTSnThe averaged Lows Questionnaire score in the patients group was significantly higher than in the controls, systolic blood pressure was increased, heart rate tended to be higher without significance, but heart rate variability was severe low, LF/HF ratio also tended to be higher in the patients group. In SSR test the amplitude of responses from hand and foot was significantly lower without changes in their latencies. We found changes in the electrophysiological tests of peripheral nerves, and positive anti-neural antibodies in 5 patients.nnnCONCLUSIONSnThe results of the study indicated to the sympathetic nervous system hyperactivity in patients with primary brain tumors. Local brain lesion with high intracranial pressure, additional peripheral nerve damage probably in the course of autoimmunity, and direct influence of autoimmunity to the central part of autonomic nervous system are possible in the pathogenesis of dysautonomia.

Is peripheral paraneoplastic neurological syndrome possible in primary brain tumors

Systemic malignant diseases cause the induction of autoimmunity, for example, paraneoplastic syndromes. There are no proofs of paraneoplastic syndromes in primary brain tumors. The aim of the study was to evaluate the involvement of the peripheral nervous system, together with an assessment of onconeuronal and antineural antibodies as indicators of humoral immune response against nervous system in patients with primary brain tumors.

Anatomical variation of the vertebral artery clinically mimicking myasthenia gravis.

Cranial nerve palsy, most commonly trigeminal, abducens, or facial, caused by compression of an ectatic or elongated intracranial artery is a well-known phenomenon. Symptoms of brain stem compression by an abnormal artery have rarely been reported (Tomasello et al. Neurosurgery 56(suppl 1):117–124, 2005). The authors present a 59-year-old woman with intermittent ptosis of the right eye, diplopia and swallowing disturbances, enhanced after physical effort, implying myasthenia gravis. Typical diagnostic procedures, e.g. repetitive nerve stimulation tests, acetylcholine receptor antibodies level were within normal limit. Neurogenic changes from the orbicularis oculi muscle were found in EMG. MRI and angio-CT revealed anatomical variation of the vertebral artery (elongated and arcuate route), causing intermittent signs of brain stem lesion. We point out the similarity of the clinical symptoms of myasthenia gravis and vascular brain stem compression by abnormal vertebral artery. The two diseases require completely different therapeutic proceedings.

Cerebellar ataxia as a first manifestation of Creutzfeldt-Jakob disease in two cousins

A 56-year-old man without a significant past medical history was admitted to the Neurology Department because of an 8-month history of progressive cerebellar syndrome and a 4-month history of progressing dementia. The neurological examination …

Severe course of neuromyelitis optica in a female patient with chronic C hepatitis

Neuromyelitis optica (NMO) is a rare, disabling, recurring inflammatory demyelinating disease affecting the spinal cord and optic nerves with predominance in women. We present the case of a female patient with chronic C hepatitis, who, despite treatment, developed severe symptoms of NMO during pregnancy and postpartum.

Diffusion tensor imaging findings in the multiple sclerosis patients and their relationships to various aspects of disability

BACKGROUNDnThe aim of the study was to assess microstructural changes within strategic brain regions in multiple sclerosis (MS) patients, using diffusion tensor imaging (DTI), with regard to various aspects of disability.nnnMATERIAL AND METHODSnThe study comprised 50 patients with relapsing-remitting MS (37 women, 13 men, mean age 36.4u202fyrs) and 27 age- and sex-matched controls. Using DTI, fractional anisotropy (FA) and apparent diffusion coefficient (ADC) values were obtained within corpus callosum (CC), both thalami (TH) and middle cerebellar peduncles (MCP). Disability was assessed using Expanded Disability Status Scale (EDSS), MS Functional Composite (MSFC), Symbol Digit Modalities Test (SDMT) and Fatigue Severity Scale (FSS). DTI indices were compared between the patients and controls and in the MS group - referred to disability measures.nnnRESULTSnSignificant decrease in FA and increase in ADC within CC and both TH were found in MS patients compared to the controls. DTI indices within CC and TH correlated significantly with SDMT score, and within TH and MCP - with MSFC manual dexterity measure.nnnCONCLUSIONSnChanges in DTI measures in normal appearing white and grey matter in the MS patients indicate subtle alterations of the tissue integrity. An occult damage to the strategic brain regions may contribute to various aspects of disability due to MS.

Is nigrostriatal dopaminergic deficit necessary for Holmes tremor to develop? The DaTSCAN and IBZM SPECT study

Holmes’s tremor (HT) is assumed to be the result of coexistence of nigrostriatal dopaminergic system impairment and the lesion of cerebello-thalamic pathways. It was suggested that dopaminergic deficiency is responsible for rest tremor, and lack of compensatory cerebellar function leads to spill of tremor into voluntary movements. Cases of HT with and without abnormalities of the presynaptic part of dopaminergic nigrostriatal were published and these findings raised the question of possibility of the postsynaptic lesion. Three patients with HT diagnosed according to criteria of Consensus Statement on Tremor were studied. In all of them SPECT imaging with ligands of presynaptic (I 123-FP CIT—DaTSCAN) and postsynaptic (I 123-iodobenzamide—IBZM) nigrostriatal dopaminergic neurons was performed. Indices of uptake in caudate and putamen normalized to nonspecific uptake in occipital cortex and indices of asymmetry for each whole striatum as well as for putamen and caudate separately were calculated. SPECT studies did not reveal asymmetry of DaTSCAN and IBZM binding in striatum in all studied subjects. The current clinical diagnostic criteria of HT are presumably insufficiently specific and when using them we identify patients both with and without the involvement of dopaminergic system. These two groups may represent tremor disorders of similar phenomenology but of different pathomechanism.

Progressive subacute Miller-Fisher syndrome successfully treated with plasmapheresis

BACKGROUNDnMiller-Fisher Syndrome (MFS) is a rare acute polyneuropathy composed of the clinical triad of ataxia, areflexia and ophthalmoplegia, with a monophasic, self-limited course and spontaneous improvement.nnnCASE REPORTnThe authors present a 65-year-old man with Miller-Fisher syndrome consisting of bilateral ophthalmoplegia, trigeminal and facial nerve palsy, mild ataxia and peripheral neuropathy. The disease had a progressive, subacute course within 3 months. A high titer of anti-GQ1b antibodies was detected. As a result of plasmapheresis, complete recovery was achieved.nnnCONCLUSIONSnThe presented case was atypical in its clinical course and treatment. It could support the theory of the continuity between MFS, Bickerstaff brainstem encephalitis (BBE), and Guillain-Barré syndrome (GBS).