Ivana Zadro

Isolated cranial nerve palsies in multiple sclerosis.

Data on patients with multiple sclerosis and cranial nerve involvement as a presenting sign or a sign of disease exacerbation were retrospectively analyzed. Isolated cranial nerve involvement was present in 10.4% out of 483 patients, either as a presenting symptom (7.3%) or a symptom of disease relapse (3.1%). Trigeminal nerve was most frequently involved, followed by facial, abducens, oculomotor and cochlear nerves. Only 54% of patients had brainstem MRI lesion that could explain the symptoms. As multiple sclerosis is a disease characterized by multiple neurological symptoms, while early diagnosis and therapy are critical for the prognosis and course of the disease, the diagnosis of multiple sclerosis should be considered in young adults with cranial nerve involvement.

Cervical Dystonia Due to Cerebellar Stroke

A 48-year-old woman patient presented with a sudden onset of vertigo, vomiting, and ataxia. On admission, neurological examination revealed horizontal, bidirectional nystagmus and ataxia of the left limbs. Her previous medical history was unremarkable. She smoked 20 cigarettes per day. Emergency MRI findings were consistent with acute cerebellar infarction in the irrigation area of the left superior cerebellar artery (Fig. 1a,b). Standard biochemistry, erythrocyte sedimentation rate, and complete blood count were within the normal limits. Immunologic tests (rheumatoid factor, antineutrophilic cytoplasmic antibodies, anticardiolypin antibodies, antinuclear antibodies) were negative. Chest X-ray and electrocardiogram were normal. Heart ultrasound was normal and did not show signs of patent foramen ovale. Fundus was normal. On the second day of hospital stay, she started developing abnormal posturing of her head along with sustained involuntary contractions of the cervical muscles, and so the head was rotated to the right and down. She was discharged to stationary rehabilitation with almost complete recovery of left limb ataxia. Therapy with aspirin (100 mg) was introduced, and because of registered mild hypertension, ramipril (2.5 mg) in the morning was prescribed. However, involuntary movements progressed severely over the next few weeks, and so she could just temporarily move her head to the normal position, and hypertophy of the left sternocleiodomastoid muscle developed. Neck MRI was normal. Clonazepam (0.5 mg; three times daily) and baclofen (5 mg; three times daily) were introduced. This therapy led to slight improvement of symptoms. One month later, after the application of botulinum toxin, her symptoms improved significantly.

Current concepts in the diagnosis of transverse myelopathies

The clinical symptoms and MRI characteristics of transverse myelopathy (TM) due to non-compressive causes are reviewed, with special emphasis on the differential diagnosis between inflammatory demyelinating lesions, and metabolic and vascular myelopathies. Inflammatory transverse myelopathies are the commonest and most difficult ones to identify. The differentiation between clinically isolated syndromes, multiple sclerosis, neuromyelitis optica, acute disseminated encephalomyelitis and metabolic causes is based on both clinical symptoms and paraclinical signs including magnetic resonance imaging, cerebrospinal fluid analysis, and immunological and biochemical parameters. The most intriguing form of TM is that where there is clinical evidence of complete spinal cord transection, with normal findings in magnetic resonance imaging in the acute phase, but subsequent cord atrophy.

The vestibular evoked myogenic potentials (VEMP) score: a promising tool for evaluation of brainstem involvement in multiple sclerosis

Concerning the great importance of brainstem involvement in multiple sclerosis (MS), the aim of this study was to explore the role of the newly developed vestibular evoked myogenic potentials (VEMP) score as a possible marker of brainstem involvement in MS patients.

Brain MRI abnormalities in ataxia-telangiectasia.

Background:Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder, initially characterized by normal brain magnetic resonance imaging (MRI). Case report:In a 34-year-old woman patient with AT, MRI revealed extensive and diffuse white matter dismyelination, T1 and T2 hypointense lesions, T1 hypointense but T2 hyperintense lesions, and numerous dilated telangiectases upon gadolinium enhancement. Discussion:In our patient, brain MRI confirmed extensive extracerebellar lesions in AT. Conclusion:Our report broadens the spectrum of brain MRI abnormalities in AT and supports the hypothesis on cerebrovascular abnormalities occurring in later stages of AT.

Primary diffuse meningeal melanomatosis.

Primary diffuse meningeal melanomatosis can clinically mimic a wide variety of other conditions, including lymphoma, leukemia, neurosarcoidosis, metastatic carcinoma, acute disseminated encephalomyelitis, subacute meningitis, viral encephalitis, and idiopathic hypertrophic cranial pachymeningitis. We report on a young patient with primary diffuse meningeal melanomatosis who presented with papilledema, flaccid paraparesis, and cognitive impairment. The importance of imaging of the whole central nervous system, cerebrospinal fluid analysis, and pathohistological examination is emphasized in making the appropriate diagnosis.

Parkinsonism and multiple sclerosis—Is there association?

Association between multiple sclerosis (MS) and parkinsonism is rarely reported. We describe clinical, radiological and DAT scan findings in two patients presenting with parkinsonism. MRI revealed demyelinating lesions of the central nervous system consistent with MS in both patients. On the other hand, DAT scan findings were supportive of Parkinsons disease. There is still an open debate whether MS lesions can cause parkinsonism, or these are just coincidental findings of two different diseases in the same patient. Although there are cases of causal relationship between parkinsonism and MS, some literature reports and our observations suggest that Parkinsons disease and MS can coexist as two separate diseases in the same patient. It is possible that the symptoms of Parkinsons disease can be aggravated by MS plaques, explaining the favorable response to corticosteroids in some patients.

Progressive ataxia and palatal tremor.

ANOTHERWISE HEALTHY middle-aged woman was experiencing gait instability.Neurological examination revealed truncal ataxia. Family history was negative. Brain and spinal cord 1.5-T magnetic resonance imaging (MRI) was performed and yielded normal results. Thyroid hormone, vitamin B12, and folic acid levels were normal. During the next 4 years, her walking difficulties progressed. She also developed palatal tremor. Repeated brain MRI revealed T2 hyperintensities in both olivary nuclei. Therefore, she was referred to our institution for further evaluation. On admission, the patient had severe palatal tremor (a video is available at http://www.archneurol .com) with Romberg and walking instability. She had no signs of pyramidal or sensory involvement and cognitive examination results were normal. Magnetic resonance imaging (3-T) was performed and revealed atrophy of the vermis and both cerebellar hemispheres and bilateral symmetrical hyperintensity of olivary nuclei (Figure). Brain singlephoton emission computed tomographic r esults w ere n ormal. Results of standard laboratory tests (sedimentation rate, complete blood count, serum glucose, electrolytes, liver enzymes, urea, creatinine, creatine kinase, lactate dehydrogenase, and C-reactive protein) were within normal limits. Serum and urine copper and ceruloplasmin levels were also normal. Results of genetic analysis for spinocerebellar ataxias 1, 2, 3, and 6; fragile X–associated tremor; ataxia syndrome; and Huntington disease were negative. Cerebrospinal fluid analysis revealed 1 lymphocyte and a slightly elevated protein level (0.062 g/dL [to convert to grams per liter, multiply by 10.0]) with negative oligoclonal bands. COMMENT Palatal tremors can be divided into essential palatal tremor, which is associated with normal brain MRI findings, and secondary palatal tremor, which is associated with structural lesions of the brainstem or cerebellum. 1 A distinct degenerative disease called progressive ataxia with palatal tremor has recently been described as an idiopathic or familial form of palatal tremor. 2 Characteristic MRI findings of the disease consist of bilateral hypertrophy of inferior olivary nuclei and mild cerebellar atrophy. Fludeoxyglucose F18 positron emission tomography shows hypometabolism in the red nucleus, external globus pallidus, and precuneus. Iodine I 123– radiolabeled 2-carbomethoxy-3(4-iodophenyl)-N-(3-fluoropropyl) nortropane single-photon emission computed tomography shows mild and progressive loss of striatal dopaminergic terminals, implicating dopaminergic dysfunction. 3 A very similar familial progressive ataxia with palatal tremor, spinocerebellar ataxia type 20, has been described with calcification of dentate nuclei. 4 Our patient did not have any structural lesions of the brainstem or cerebellum, and there was no calcification of the dentate nucleus. Her clinical presentation together with the 3-T MRI findings were consistent with a diagnosis of idiopathic progressive ataxia with palatal tremor.

Delay in the diagnosis of multiple sclerosis in Croatia

BACKGROUND The National Institute for Health and Clinical Excellence (NICE) guidelines for multiple sclerosis (MS) recommend the time from initial presentation to first neurological evaluation to be no longer than 6 weeks, and a further 6 weeks until any necessary investigations are completed. The aim of this study was to evaluate how many patients with MS are diagnosed within the NICE timelines in two settings specific for Croatia. PATIENTS AND METHODS All patients with the final diagnosis of clinically isolated syndrome (CIS) or MS in a 6 months period were retrospectively reviewed. We calculated time from first symptom to first neurological evaluation, time from first symptom to MRI scan, time from first neurological evaluation to MRI scan, time from first neurological evaluation to lumbar puncture (LP), time from first symptom to diagnosis and time from first neurological evaluation to diagnosis. We also calculated the percentage of patients fulfilling the NICE timelines. RESULTS This study showed that only 61.5% of MS patients in Croatia see neurologist within 6 weeks of first symptoms, and 64.1% are diagnosed within next 6 weeks. However, 80% and 100% of patients presented to the emergency room of our hospital (where a visit to a MS clinic can be automatically made) met the NICE guidelines for time from first symptom to first neurological evaluation and time from first neurological evaluation to diagnosis, respectively. CONCLUSION A specifically designed demyelinating disease diagnostic clinic offers a better service than other existing models in the diagnosis and management of MS patients.

Isolated plasma cell granuloma of the meninges

A 77-year-old female with hypertension, presented with right partial motoric seizures. Neurological examination showed right hemiparesis. Brain MRI revealed extensive post-contrast interhemispheral dural, pachymeningeal and leptomeningeal enhancement of the left cerebral hemisphere (Fig. 1), which were initially interpreted as meningeal carcinomatosis. However, CSF analysis performed on two occasions, with normal cell count, glucose and protein levels, did not show malignant cells. Chest and abdominal CT scan and mammography were normal. Brain and meningeal biopsies were performed and histological findings (Fig. 2) were consistent with plasma cell granuloma. Following this bone marrow biopsy, skeletal X-rays survey, peripheral blood cell count, renal function, calcium and protein electrophoresis were normal. The patient was treated with corticosteroids without any neurological sequel and significant improvement of MRI findings. This case emphasizes how the diagnosis of leptomeningeal carcinomatosis remains challenging, as neither CSF cytology nor MRI is adequately sensitive for the diagnosis. Plasma cell granulomas are uncommon, benign inflammatory masses of unknown etiology [1]. They are histologically characterized by polyclonal plasma cells, large histiocytes with lymphophagocytosis and fibrosis [1]. There are only few reports of isolated CNS plasma cell granuloma in the literature [1]. Based on similar histological features, plasma cell granulomas, Rosai–Dorfman disease, and idiopathic hypertrophic pachymeningitis are now believed to form a spectrum of inflammatory or reactive conditions with, probably, the same unknown etiology [2, 3]. Rosai–Dorfman disease, or sinus histiocytosis, with massive lymphadenopathy, is a benign idiopathic histiocytic proliferative disease with pathognomonic histological and immunohistochemical characteristics. Extranodal involvement occurs in 43 % of cases [4], and by December 2008 111 cases of Rosai–Dorfman disease involving the central nervous system had been reported in the literature [5]. The main histopathological differentiation between plasma cell granuloma and Rosai–Dorfman disease is a careful appraisal of the morphological features together with the absence of emperipolesis in the S100-positive D. Kolenc S. Dotlic Department of Pathology, University Hospital Center Zagreb, Zagreb, Croatia