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

Neuroimaging in inborn errors of metabolism

Nasljedne metaboličke bolesti pripadaju skupini od više od 8.000 monogenski nasljednih bolesti, a prema online bazi podataka o nasljednim metaboličkim bolestima (IEMbase), do sada ih je poznato oko 1.900. Najčešće su uzrokovane patogenim varijantama nuklearnih gena, a manji dio ih nastaje zbog patogenih varijanti gena u mitohondrijskoj DNA. Posljedica je navedenih mutacija ili akumulacija toksičnih produkata ili nedostatak esencijalnih metaboličkih produkata. U konačnici takvi poremećaji uzrokuju više ili manje specifične kliničke simptome, kao posljedica zahvaćenosti različitih organa ili tkiva, a većina ih zahvaća i središnji živčani sustav. Klinički simptomi mogu se pojaviti u bilo kojoj dobi, od intrauterine do kasne odrasle dobi. Mogućnost liječenja i ublažavanje posljedica značajno ovisi o pravovremenoj dijagnozi. Neuroradiološka obrada može suziti diferencijalnu dijagnozu i usmjeriti daljnju obradu, a ponekad zahvaljujući specifičnim obrascima zahvaćanja središnjega živčanog sustava (CNS-a) može dovesti i do ranog postavljanja dijagnoze i time pravovremene terapije. No, neuroradiološki nalaz kod ovih bolesti može varirati od urednog nalaza do opsežnih promjena, ovisno o brojnim čimbenicima (vrsti i trajanju bolesti, količini nakupljenih toksičnih metabolita, zrelosti mozga te fazi bolesti u kojoj se radi MRI). Obzirom na brojnost ovih poremećaja nije ih moguće sve obuhvatiti u kratkom pregledu te je cilj ovog rada pokazati nekoliko primjera s tipičnom neuroradiološkom prezentacijom.Inborn errors of metabolism (IEM) are a group of more than 8000 monogenic inherited diseases, and according to the online database of IEM (“IEMbase”), around 1900 of them are recognized so far. Most often they are caused by pathogenic variants of nuclear genes, and a smaller proportion of them are caused by pathogenic variants of genes in mitochondrial DNA. The result of these mutations is either the accumulation of toxic or the lack of essential metabolic products. These disorders cause more or less specific clinical symptoms, as a result of the involvement of various organs or tissues, and most of them will also affect the central nervous system. Clinical symptoms can occur at any age, from intrauterine to late adulthood. The possibility of treatment and mitigation of consequences significantly depends on timely diagnosis. Neuroimaging with specific patterns of CNS involvement can narrow the differential diagnosis and direct further management of the patient. However, neuroradiological findings vary from normal findings to extensive changes, depending on a number of factors (type and duration of the disease, the amount of accumulated toxic metabolites, brain maturity, and the stage of the disease in which MRI is performed). Given the number of these disorders, it is not possible to include them all in thid short review, so the aim of this paper is to provide several examples with a typical neuroradiological presentation of IEMs

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

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

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