Chronic Autoimmune Neuropathies

U kliničkom radu najvažnije je razlikovati akutne i kronične neuropatije, a zatim razlučiti dominantno motoričke oblike kroničnih neuropatija. Kortikosteroidi nisu učinkoviti u akutnom obliku neuroimunopatije te mogu dovesti do pogoršanja multifokalne motorne neuropatije, ali i drugih, dominantno motornih oblika kroničnih neuroimunopatija. Samo 51% oboljelih od kronične inflamatorne demijelinizacijske neuropatije ima tzv. klasični oblik bolesti. Kronična neuroimunopatija jest ona koja traje dulje vrijeme, obično dulje od tri mjeseca, i ima oscilirajući, sporo progresivni ili relapsno-remitirajući tijek. Kronična inflamatorna demijelinizacijska polineuropatija (engl. Chronic Inflammatory Demyelinating Polyneuropathy – CIDP) jest stečena, autoimunosna, najčešće demijelinizacijska i senzomotorička neuropatija. CIDP se u kliničkim i elektromioneurografskim (EMNG) značajkama preklapa s drugim oblicima polineuropatija, poput dijabetičke senzomotoričke polineuropatije, činjenicom da očekivani klasični oblik bolesti ima tek svaki drugi bolesnik, da je bolest devet puta češća u dijabetičara te da se CIDP može naći i kao sekundarna neuropatija u bolesnika s nasljednim demijelinizacijskim polineuropatijama. Za dijagnozu CIDP-a treba učiniti dovoljno ekstenzivnu elektroneurografsku analizu i dovoljnu obradu koje će isključiti ili dokazati druga stanja i bolesti što se mogu javiti uz ovu polineuropatiju. Znatan broj bolesnika današnjim metodama imunomodulatorne i imunosupresijske terapije može se vrlo uspješno liječiti. Ovo je neuromuskularna bolest u kojoj možemo svjedočiti brzom oporavku teškoga motoričkog deficita i pratiti cjelokupan oporavak bolesnika na obostrano zadovoljstvo. No, motorički deficit nije jedina, a ni najvažnija klinička pojavnost ove bolesti. Iako smo toga manje svjesni nego što je to slučaj u akutnim neuroimunopatijama, i u CIDP-u može doći do znatne autonomne disfunkcije koja može biti bitna odrednica prognoze bolesnika i uspješnosti liječenja.Distinguishing the difference between acute and chronic forms, including the dominant motor forms of chronic neuropathies, is essential to any clinical work related to chronic autoimmune neuropathies. Corticosteroids are not effective in the acute form of neuroimmunopathy and may lead to aggravation of multifocal motor neuropathy, as well as other dominant motor forms of chronic neuroimmunopathy. Only 51% of patients suffering from a chronic inflammatory demyelinating polyneuropathy (CIDP) have the so-called “classic form of disease”. Chronic neuroimmunopathy is a disease that persists for a long time, usually lasting more than three months, and has an oscillating, slowly progressive or relapsing-remitting course. CIDP is acquired, autoimmune, most commonly both demyelinating and sensomotoric neuropathy. In terms of clinical and electromyoneurographic (EMNG) features, the common denominator that CIDP shares with other forms of polyneuropathies, such as diabetic sensomotoric polyneuropathy, is the fact that the expected classical form of disease is seen in only one out of two patients, that the disease is nine times more common in diabetics and that CIDP can also be found as secondary neuropathy in patients with inherited demyelinating polyneuropathies. Diagnosis of CIDP requires electroneurography and diagnostic work-up that are extensive enough to exclude or demonstrate other conditions and diseases which may occur alongside this polyneuropathy. Today’s methods of immunomodulatory and immunosuppressive therapy can ensure successful treatment for a significant number of patients. This neuromuscular disease allows for a rapid recovery of severe motor deficits, as well as the monitoring of the patient’s overall recovery to the mutual satisfaction. However, motor deficiency is neither the only nor the most important clinical manifestation of this disease. Although we are more aware of the fact that significant autonomic dysfunction can occur in acute neuroimmunopathy, it can also occur in CIDP, representing an important determinant of patients’ prognosis and success of treatment

Myasthenia gravis patients with anti-MuSK antibodies [Miastenija gravis kod bolesnika s pozitivnim protutijelima na MuSK]

In myasthenia gravis (MG) patients without detectable anti-acetylcholine receptor (anti-AChR) antibody, referred to as seronegative myasthenia gravis patients, there is a variable proportion of patients with antibodies against the muscle specific kinase (MuSK). MuSK antibodies were found in 8 (29.6%) of our 27 patients with generalized MG without anti-AChR antibodies. All these patients were female. The age at the onset ranged from 22 to 38 years. All patients had ocular and bulbar symptoms, and two patients also had generalized limb weakness. Two patients had pure ocular symptoms for 7 or 8 years before the development of bulbar symptoms. All anti-MuSK positive patients were treated with immunosuppressive drugs, three received plasmapheresis and one patient required mechanical ventilation. Our results are consistent with other literature reports

STIFF PERSON SYNDROME (MOERSCH-WOLTMAN)

Cilj ovog članka je dati pregled znanstveno potvrđenih spoznaja o epidemiologiji, genetici, etiopatogenezi, kliničkoj slici, dijagnostici i liječenju sindroma ukočene osobe. Sindrom je karakteriziran progresivnim mišićnim rigiditetom i bolnim mišićnim spazmima. Tri su oblika ovog sindroma: autoimuni, paraneoplastički i idiopatski. Kod autoimunog oblika verificirana su antitijela na glutamat dekarboksilazu, a kod paraneoplastičke varijante antitijela na presinaptički protein amfifizin i postsinaptički protein gefirin. Dijagnoza se temelji na dijagnostičkim kriterijima (kliničkim, laboratorijskim i elektrofiziološkim) prema Gordonu i Lorishu. Liječenje može biti simptomatsko i imunomodulacijsko (imunosupresijsko). U Republici Hrvatskoj su od 2005. godine publicirana dva prikaza slučaja ovog sindroma. Iako rijedak, ovaj je sindrom od kliničkog značenja, osobito uzevši u obzir postojanje paraneoplastičke varijante te osobitosti anesteziološkog pristupa kod pacijenata s ovom bolesti.The prime goal of this paper is to offer an overview of main scientific points in epidemiology, genetics, pathogenesis, clinical course and therapeutic strategies in stiff person syndrome (SPS). This syndrome is characterized by progressive muscle rigidity and painful muscle spasms. Three major forms of SPS are described, according to the pathophysiologic basis, autoimmune, paraneoplastic and idiopathic SPS. In autoimmune form of SPS the antibodies are specific for an enzyme (glutamic acid decarboxylase, GAD). If the paraneoplastic form takes place, the antibodies may be specific for presynaptic (amphyphysin) or the postsynaptic protein (gephyrin). The SPS diagnosis should be based on clinical, laboratory and electromyoneurographic criteria, according to Gordon and Lorish. The therapeutic approaches are focused on symptomatic therapy managing the muscle spasm and on possible immunomodulatory procedures to attenuate an autoimmune reaction. Two cases of SPS are reported in the Republic Croatia since 2005. Although it is a rare medical condition, SPS is of clinical importance, especially because it may be the first sign of an underlying undiagnosed malignant disease or if the anesthesia is necessary in SPS patient

Calculating Lumbar Puncture Depth in Children

Lumbar puncture was performed in 195 children and the depth of needle was recorded. Our results show that the depth of lumbar puncture necessary to obtain uncontaminated cerebrospinal fluid correlates best with the child’s weight. The simple formula: mean depth of insertion (cm) = 1.3 + 0.07 x body weight (kg), can be used to estimate the depth of lumbar puncture of children older than 3 months. The depths of lumbar puncture of children younger than 3 months are mostly 1.0–1.5 cm

FACTORS CONTRIBUTING TO THE REDUCTION OF PAIN DURING ELECTROMYOGRAPHY AND NERVE CONDUCTION STUDIES

Background: Electromyography (EMG) and nerve conduction studies (NCS) are an unpleasant and sometimes painful examinations. Pain can reduce patient’s compliance and have a negative effect on the examination results. Different studies rep ort that music affects pain perception by acting as a distractor, by inducing positive emotional valence or through the concept of convergence of different sensory modalities. The aim of this study was to explore the effect of music and different environment al and sociodemographic factors on pain perception during EMG and NCS. Subjects and methods: Sixty patients with suspected neuromuscular disease were randomized into music and control group. Specific questionnaire assessed sociodemographic characteristics, medical history, examination waiting time, examination extent and biometeorological forecast. The numerical rating scale was used for the evaluation of pain. The examiner evaluated patient’ s compliance after the examination. Results: NCS was less painful for patients in the music group (p=0.03), as well as for more cooperative patients (p=0.011). For patients who previously underwent EMG/NCS, present NCS was more painful (p=0.001), regardless of the music intervention (p=0.019). EMG was more painful for older patients (p=0.041). Patients with lower level of education reported lower pain during NCS (p=0.026). Gender, financial satisfaction, biometeorological forecast, diabetes, depression or malignant disease, use and dosing of analgesics or antidepressants, symptoms, examination waiting time and the examination extent had no effect on pain perception. Conclusions: Music significantly decreased the perception of pain associated with NCS, but not the EMG portion of the examination. During EMG pain level was not significantly reduced, but the median of pain was still lower. Generally, the pain l evel during NCS, unlike the one during EMG, was affected by patients\u27 compliance, level of education and painful predetermination. W e propose using music during EMG/NCS because it can make the examination more comfortable for the patient and thus contribute to better quality of this examination

Complex Regional Pain Syndrome Type I after Diphtheria-Tetanus (Di-Te) Vaccination

Complex regional pain syndrome type I (CRPS I) is a disorder of one or more extremities characterized by pain, ab- normal sensitivity (allodynia), swelling, limited range of motion, vasomotor instability, fatigue and emotional distress. The symptoms may be aggravated by even minor activity or weather change. It is usually provoked by injury, surgery or injection but in a small proportion of patients CRPS I develops without a clear causative event. There are several litera- ture reports on CRPS after rubella and hepatitis B vaccination. We present a case of CRPS I affecting the left arm after diphtheria and tetanus (Di-Te) vaccination in the left deltoid muscle in a young girl having experienced profound emo- tional stress before the vaccination procedure. History data on previous minor trauma at the site of vaccination or emo- tional stress may necessitate temporary vaccination delay due to their proneness to impaired local or systemic immune response and CRPS as a complication of vaccination. If a child or an adult has prominent swelling and severe pain after vaccination, the diagnosis of CRPS I should be considered and if confirmed, the multidisciplinary treatment should start as soon as possible

Nusinersen treatment in SMA type III: treating an adult patient

INTRODUCTION/OBJECTIVES: Spinal muscular atrophy (SMA) is a rare disorder which presents as a loss of (spinal) lower motor neuron with consequential muscular atrophy. It is caused by absence of SMN1 gene on chromosome 5 due to exon 7, or additionally exon 8, deletion. Presence or absence of SMN2 and NAIP genes determine the severity and time of onset of the disease. SMA is divided in 5 types ranging from 0 to 4 with 0 being the most severe with the earliest time of onset and 4 being the mildest with the latest time of onset