Differential diagnostic relevance of high resolution magnetic resonance in patients with possible multiple system atrophy (MSA) – a case report [Važnost uporabe magnetne rezonancije visoke rezolucije u dijagnostici moguće multiple sistemske atrofije - prikaz slučaja]

Multiple system atrophy (MSA) is sporadic, progressive neurodegenerative disorder characterized clinically by autonomic dysfunction, Parkinsonism (MSA-P), and cerebellar ataxia (MSA-C) in any combination. Parkinsonism is present in the majority of patients (80%). Early in the course of the disease autonomic dysfunctions are present in approximately 40% of patients, while the domination of cerebellar symptoms is present in 20% of all patients1,2. According to second consensus statement on diagnosis of MSA, to make the diagnosis of possible MSA, except Parkinsonism or a cerebellar syndrome, there must be one feature involving autonomic dysfunction plus one other additional that can include findings on history, clinical examination or changes in structural or functional imaging3. We present a case of 60-year old male with Parkinsonism and cerebellar symptoms accompanied with signs of autonomic nervous system involvment. Level of autonomic dysfunction was not the level required for the diagnosis of probable MSA. On initially performed 1.5T MRI, the most prominent neurodegenerative feature of brain stem, cerebellum and basal ganglia was atrophy, however features like »hot-cross bun« sign, »slit-like« putaminal rim and middle cerebellar peduncle hyperintensities were detected only after MR imaging on higher resolution (3T) device4. Our case points to the possibility that some typical structural changes that can help in diagnostic process may not be clearly visible on 1.5 T MRI devices. In such cases we suggest using 3T MRI device, if feasible, in order to demonstrate findings that may help in establishing the diagnosis of possible MSA

Endovaskularno liječenje intrakranijskih aneurizmi zavojnicama uz ugradnju potpornice [Endovascular treatment of intracranial aneurysms with stent assisted coiling]

The aim of intracranial aneurysm treatment is prevention of rupture. For a long time only option was neurosurgical procedure of clipping the aneurysm neck for exclusion from circulation, but certain number of patients were unfavourable for operation. In the last 20 years endovascular technique of embolization with coils (coiling) was developed as an alternative and solution for those patients. Published investigations have shown better results of embolization procedures with lower rates of complications, but higher rate of recanalization, i.e. reentering of blood into the aneurysm, was observed that requires more controls and longer follow-up. To improve long-term results, stents have been used as a supporting device to allow better filling of large and wide neck aneurysms with coils, with additional effect of diverting blood flow from the aneurysm and promotion of aneurysm neck healing. In this research demographic, clinical and anatomical parameters of patients and aneurysms treated with non assisted or stent assisted coiling were assessed, and long-term morphological outcome was evaluated on control angiographic exams. It was established that endovascular treatment with stent assisted coiling does not have higher rate of angiographicaly detected procedural complications than non assisted coiling, and that use of stent significantly reduces the rate of persistent residual filling of aneurysm lumen during follow-up period, but does not reduce the rate of recurrence compared to non assisted coiling

Severe Isolated Cognitive Relapse in Multiple Sclerosis - Indication for High Efficacy Therapy?

Isolated cognitive relapses (ICRs) are transient deficits in cognitive performance that are not accompanied with other symptoms typical for multiple sclerosis (MS). They are often missed and can lead to long-term cognitive decline. Considering possible devastating consequences of cognitive impairment, especially in working adults, and high economic burden of MS, it is of great importance to establish whether ICRs are sufficient to start with high efficacy therapy. 42-year- old women with a recent diagnosis of relapsing-remitting multiple sclerosis developed significant impairment in almost all cognitive domains, with dominant difficulties in naming and low performance in phonemic fluency tasks, consistent with ICR. Her brain MRI showed new lesions affecting the anterior part of the thalamus and her condition partially improved on intravenous corticosteroid therapy. While waiting the disease-modifying therapy to begin, for what was now highly active MS, she developed subarachnoid haemorrhage which further narrowed the treatment options. This case illustrates the complexity of managing patients with MS and ICRs in at least three aspects. Firstly, the lack of uniform definition resulting in diagnostic delay of highly active MS and ICRs. Secondly, optimal treatment choices are often limited due to safety issues and reimbursement reasons. And thirdly, there is still an open question about the right treatment option for ICRs, so more research is needed

Arylsulfatase a Gene Polymorphisms in Relapsing Remitting Multiple Sclerosis: Genotype-Phenotype Correlation and Estimation of Disease Progression

Arylsulfatase A (ASA) is a lysosomal enzyme involved in catabolism of cerebroside-sulfate, major lipid constituent of oligodendrocyte membranes. Various polymorphisms in ASA gene have been described, leading to different levels of enzyme deficiency. Progressive demyelination occurs in metachromatic leukodystrophy (MLD), while the condition of ASA-pseudodeficiency (ASA-PD) is suggested to contribute to complex pathogenesis of multiple sclerosis (MS). This work presents usefulness of genotype-phenotype correlation in estimation of disease severity and progression. The presence of two most common mutations associated with ASA-PD was analyzed in 56 patients with diagnosis of relapsing-remitting multiple sclerosis, by polymerase chain reaction restriction fragment length polymorphism method. In MS patients confirmed as ASA-PD mutations carriers, arylsulfatase activity was determined in leukocyte homogenates by spectrophotometry. To determine whether there is a difference between disability level and/or disease progression in patients with or without mutations we have estimated disability level using Expanded disability status scale (EDSS) and disease progression using Multiple sclerosis severity score (MSSS). Correlation of genotypes and disease progression was statistically analyzed by Kruskal-Wallis test. Patients showing higher MSSS score and found to be carriers of both analyzed ASA-PD mutations were additionally examined using conventional magnetic resonance (MR) techniques. The presence of either one or both mutations was determined in 13 patients. Lower ASA activities were observed in allMS patients carrying the mutations. Nine of the mutations carriers had mild disability (EDSS=0–4.0), 1 had moderate disability (EDSS=4.5–5.5), and 3 had severe disability (EDSS6.0). On the other hand, only 3 MS patients who were mutation carriers showed MSSS values lower than 5.000 while in other MS patients-mutation carriers the MSSS values ranged from 5.267 to 9.453. Comparison of MR findings between MS patients, mutations carrier vs. non-carrier, matched for sex, age and disease duration, showed that the total number of lesions and the number of hypointense lesions on T1-weighted images was greater in MS patient carrying the ASA-PD mutations. Our results on genotype-phenotype correlation analysis indicate a possible contribution of detected arylsulfatase A gene polymorphisms to the clinical severity of multiple sclerosis, estimated by EDSS, MSSS and MR findings. The MSSS proved to be more appropriate indicator of disease progression and should be more frequently used in clinical practice especially for comparison of disease progression in different groups of patients and identification of factors that may influence disease progression such as the presence of gene polymorphisms

Importance of Diagnostic Imaging Technology in asymptomatic patients and therapeutic imaging approach: Child with ruptured brain AVM

Brain arteriovenous malformation is a type of high flow vascular malformation shunt in which blood flows from a feeding artery to a draining vein forming a connection called nidus (shunting arterioles/venous loops). They may not become clinically evident for several years. Other possible clinical presentations include headaches, seizures, and hemorrhage, which can be a vital complication

Long-term angiographic outcome of stent-assisted coiling compared to nonassisted coiling of intracranial saccular aneurysms

Aim To compare angiographic result at long-term followup, and rates of progressive occlusion, recurrence, and retreatment of stent-assisted coiled (SAC) and non-assisted coiled (NAC) intracranial saccular aneurysms. Methods Retrospective evaluation of department records identified 260 patients with 283 saccular intracranial aneurysms who had long-term angiographic follow-up (more than 12 months) and were successfully treated with SAC (89 aneurysms) or NAC (194 aneurysms) at the University Hospital Center Zagreb from June 2005 to July 2012. Initial and control angiographic results in both groups were graded using Roy/Raymond scale, converted to descriptive terms, and the differences between them were evaluated for statistical significance. A multivariate analysis was performed to identify factors related to progression of aneurysm occlusion and recurrence at follow-up, and those related to aneurysm retreatment. Results There were more progressively occluded aneurysms in SAC group (38 of 89 aneurysms, 42.7%) than in NAC group (46 of 194, 23.7%) (P = 0.002), but there were no significant differences in the rates of recanalization, regrowth, and stable result. Multivariate logistic regression identified the use of stent as the most important factor associated with progressive occlusion (P = 0.015, odds ratio 2.22, 95% confidence interval 1.17-4.21), and large aneurysm size and posterior circulation location as most predictive of aneurysm recurrence and retreatment. Conclusion The use of stent is associated with delayed occlusion of initially incompletely coiled aneurysms during follow-up, but does not reduce the rate of recurrence and retreatment compared to coiling alone. Long-term angiographic follow-up is needed for both SAC and NAC aneurysms

Gordon Holmesov sindrom prvi put dijagnosticiran u Hrvatskoj

Prikazuje se 38-godišnja bolesnica koja se klinički prezentirala ataksijom, kognitivnom disfunkcijom i sekundarnom amenorejom, s izraženim hiperintenzivnim promjenama na magnetskoj rezonanciji mozga (MR). Klinički simptomi počeli su u dobi od 20 godina razvojem sekundarne amenoreje, nestabilnosti u hodu i kognitivnom disfunkcijom. Iako je ovakav skup povezanih simptoma ataksije, primarne/sekundarne amenoreje uslijed hipogonadotropnog hipogonadizma i kognitivne disfunkcije poznat kao Gordon Holmesov sindrom (GHS), takav do sada nije opisan u Hrvatskoj. Zbog navedenog, dotadašnja klinička dijagnostika u različitim neurološkim institucijama koja je bila u početku usmjerena primarno na ataksiju, kognitivni poremećaj te nalaz hiperintenzivnih promjena na MR-u mozga, zanemarujući sekundarnu amenoreju, bila je neuspješna. Analizom velike grupe autosomno-recesivnih cerebelarnih ataksija naša grupa uočila je podudarnost skupa kliničkih simptoma: cerebelarne ataksije, kognitivne disfunkcije i hipogonadotropnog hipogonadizma, uz karakterističan MR nalaz specifičnih subkortikalnih hiperintenzivnih promjena bijele tvari, talamusa i moždanog debla i cerebelarne atrofije, koji čine sindrom uzrokovan mutacijom gena ATM RNF216, Gordon Holmesov sindrom. Sekvencijska genomska analiza učinjena u Variantyx laboratoriju u SAD-u pokazala je u naše bolesnice složenu heterozigotnu mutaciju RNF216 što je potvrdilo dijagnozu GHS-a, prvi put dijagnosticiranog u Hrvatskoj