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The muscular dystrophies are a group of inherited, non-inflammatory disorders, consisting of progressive muscle wasting, without peripheral or central nerve involvement. We present a series of three cases involving progressive motor deficit and their different evolutions. The first case is about a 57-year-old female patient, without a significant family medical history, presenting for progressive motor deficit involving the shoulder and pelvic muscles, started at the age of 20-year-old, when she was diagnosed with a sporadic form of limb-girdle muscular dystrophy. The second case is about a 27-year-old male, diagnosed with muscular dystrophy at the age of 15. The third case is about a 43-year-old male admitted for frequent falls and weakness of the limbs, mainly distal, started 10 years ago. He was diagnosed with myotonic dystrophy. Although there is still no treatment for muscular dystrophies, the pathology is under investigation in clinical trials.

Chiari malformations are congenital defects involving the cerebral structures in the posterior fossa. They range from asymptomatic cerebellar tonsil herniation beside the brainstem, to cerebellar aplasia. These conditions were first described in 1890 and are still considered a rare occurrence even though they are more likely under-diagnosed rather than rare. We report the case of a 44-year-old woman with Chiari type I malformation and associated cervical syringomyelia.

Acute encephalopathy is frequently seen in Neurology and Internal Medicine Departments, it makes for a wide spectrum of neuropsychiatric abnormalities, but its brain magnetic resonance imaging appearance in the adult population is not well recognised. We present the case of an acute hyperammonemic encephalopathy in the setting of ischemic hepatitis secondary to global heart failure and its MRI findings with a review of the literature.

The most common tumours of the central nervous system, meningiomas are frequently diagnosed by accident when patients undergo imaging studies of the brain for other reasons. Most patients lack symptoms and thus can live their whole lives without knowing they have a brain tumour. Less fortunate patients seek medical advice for troubling symptoms – like seizures or disturbances of the cranial nerves – get surgery for the excision of the tumour and years later fi nd out their tumour has come back. We are presenting the case of such a patient with a recurrent parietal meningioma.

Progressive multifocal leukoencephalopathy (PML) is an opportunistic infection associated with the reactivation of the JC virus, causing a severe demyelination within the central nervous system in patients with immunosuppression caused by disease or secondary to use of drugs. Several therapies used in the treatment of MS have reported cases of associated PML, most cases being related to Natalizumab treatment. In this article we review specific MS medication with a reported risk for PML, and also revise PML epidemiology, pathogenesis, treatment and available approaches on therapy in patients at high risk for developing this infection.

Cerebral venous thrombosis is a rare form of stroke treated with anticoagulant compounds both in the acute phase as well as in long term. We present the case of a 56-year-old female that suffered two different forms of stroke in 2 years.

Alzheimer’s Disease (AD) is the most common form of dementia in the old population, carrying a major negative influence upon society and caregivers, as its socio-economic implications are enormous. The devastating impact of AD is also due to the fact that the diagnosis is difficult to be established in an early stage, and in spite of the advances made in medicine, the new symptomatic and disease modifying therapies have still only a mild though promising positive effect. Caregivers are exposed to increased risk of disease themselves, due to the high burden which predisposes them to stress related psychological, behavioral or cognitive disorders. Greater caregiver resilience can predict lower levels of depression. Also, a strong external support system was associated with increased resilience. Establishing a pattern for the behavioral and psychological manifestations in dementia can have as direct effect developing better coping strategies in order to reduce stress and the burden of the caregivers. Some data regarding the economic and social impact of AD, as well as facts and numbers from our local centers will be described in the following pages.

We are presenting the case of a 43 year old man, without significant pathological antecedents, who accused back pain with irradiation on the back of the thigh and the right calf, which were associated with paresthesia at the same level. Symptoms appeared a year ago, when the patient was on symptomatic treatments with minimal results. On the generally examination there are found fifteen café au lait spots, distributed on the torso and limbs with the diameter above 15 mm, axillary hyperpigmentation, ten cutaneous neurofibromas with the same distribution and Lisch nodules in the iris. We proceeded to MRI examination of the lumbar spine that reveals an important irregular thickening, tortue with pseudotumoral aspect, predominantly in the extraforaminal and peripheral path and less in the intraforaminal of nerve roots from T12 to the sacral roots; widening of the conjugation foramina; changes are more pronounced in the sacral plexus (left > right), the terminal segments presenting the appearance of „pelvic mass“ – MRI compatible with plexiform neurofibromas aspect. The final step was the histopathological examination which confirmed the diagnostic. The particularity of this case is that this patient was very late diagnosed, despite the fact that he had many pathognomonic elements of neurofibromatosis, and his symptomatology was rough, usually this disease is diagnosed in childhood or as an young adult.

Chronic subdural hematoma is a common type of intracranial hemorrhage with higher incidence and unpredictable evolution among elderly people. We present the case of a 73 years old male patient, diagnosed in October 2013 with subacute bilateral subdural hematomas who was admitted in our clinic for worsening of motor function in his left limbs. The cerebral CT performed revealed a right massive chronic subdural hematoma which met the criteria for neurosurgical approach requiring a large craniotomy for complete removal. In this article we review the risk factors associated with an unpredictable evolution and postoperative subdural hematoma recurrence in the elderly.

Lately, vitamin D has been a hot topic among multiple sclerosis specialists. Vitamin D supplementation is being thoroughly researched in order to establish whether or not it is useful in the treatment of multiple sclerosis. We present the case of a patient with multiple sclerosis, who, after searching online, decided to administer vitamin D supplements in high doses; subsequently he was admitted to our for-clinic symptoms consistent with vitamin D intoxication.

Cavernomas are frequent low-flow vascular malformations with a characteristic MRI aspect due to their specific morphology. We present the case of a 64-year old male diagnosed in 2008 with multiple cerebral cavernomas and symptomatic epilepsy, who developed left face, arm and leg paresthesia during the last 6 days. The MRI examination performed in our clinic showed increased number of infracentimetric lesions with no signs of hemorrhage or growth of the previous documented ones. Considering MRI findings and the patient being seizure free for the last three years there is no current indication for invasive treatment. The presence of multiple lesions along with their aspect on T2* MRI sequences suggest a hereditary form in absence of familial history of cerebral cavernous malformations.

We report the case of a 68 year-old female (O.F.), referred to our clinic for a neurological evaluation after an episode of loss of consciousness that occurred three days before admittance. She was also diagnosed with cognitive impairment (July 2011). Case particularity: the MRI examination, which was the investigation of choice in this case, revealed structural brain abnormalities – dysgenesis of the corpus callosum.

Neurologic defi cits appearing after various anesthetic techniques are not always caused by these procedures, also some are attributed to them. Neuraxial blocks – spinal, more often than epidural – have been associated with the postoperative relapse of multiple sclerosis, although the evidence is not strong. The mechanism is unknown but it is speculated that the disease makes the spinal cord more susceptible to the neurotoxic effects of local anesthetics. We present the case of 42-years-old female, scheduled for ureteroscopy for ureteric calculi under spinal anesthesia. Postoperatively she developed various neurological symptoms that together with the paraclinical findings led to the diagnosis of multiple sclerosis.

We present the case of T.F., a 28 year-old woman diagnosed with corpus callosum dysgenesis and colpocephaly. The diagnosis is based on cerebral imaging – magnetic resonance imaging (MRI) and computerised tomography (CT)

We present the case of a 60 year-old woman diagnosed with meningiomatosis (multiple sporadic meningiomas), in the absence of neurofibromatosis type 2. The cerebral computerized axial tomography (CT scan) revealed six expansive lesions (one isodense and five spontaneously hyperdense partially or completely calcified), which at the cerebral magnetic resonance imaging (MRI) examination showed typical features of meningiomas. Case particularity: the very low incidence of sporadic multiple meningiomas and a rare cause of secondary epilepsy.

Porphyria is a group of at least 8 diseases that differ greatly between them. Common feature of these diseases is the accumulation in the body of porphyrins or porphyrin precursors, due to defects of specific enzymes in the biosynthesis of heme. Many symptoms of porphyria are nonspecific and therefore the diagnosis is often delayed. Laboratory tests can confirm or exclude the diagnosis of porphyria. However, certain diagnosis requires demonstration of specific enzyme deficiency. The presented case demonstrates the difficulty in diagnosis of acute intermittent porphyria (AIP) in a young woman without a history of significant pathology.

Behçet disease is a form of vasculitis that can lead to ulceration and other lesions. The etiology is not well-defined, but it is characterized by inflammation of the blood vessels. There is no specific pathological test for Behçet disease at present. It is diagnosed clinically by specific patterns of symptoms and repeated outbreaks.

Multiple sclerosis is the most common neurological disease of young adults that causes major disability. In Romania, it is estimated that this disease has a prevalence of 35–40 per 100,000 inhabitants. It is a disease that begins at the age of 20–40 years and is 2-3 times more common in women than in men. More than half of patients with MS develop the disease in their fertile period of life; therefore, MS patients use contraceptive methods while being under our treatment. Since several therapeutic options have been implemented with good efficiency in the disease stabilization, increasingly more patients begin to wonder about the possibility of having a child and about the possible risks of pregnancy. The evolution during pregnancy and the lactation period has been favorable, with lower relapses and side effects comparable to those in the general population. In addition, babies born to mothers with MS have not had a significantly different mean gestational age or birth weight compared to babies born to healthy mothers.

Total medullar syndrome section has multiple causes including the most common are trauma with or without bone involvement, spinal tumors, myelitis and ischemia. At various stages of clinical presentation are written plus some features of each etiology in part. Differential diagnosis often requires additional investigation and interdisciplinary consultation that could be a major emergency. [ABSTRACT FROM AUTHOR]