Genetic determination of motor neuron disease and neuropathy.

Following the completion of the Human Genome Project, a lot of progress has been made in understanding the genetic basis of motor neuron diseases (MNDs) and neuropathies. Spinal Muscular Atrophies (SMA) are caused by mutations in the SMN1 gene localized on Chromosome 5q11. Amyotrophic Lateral Sclerosis (ALS) has been found to have at least 18 different types, many of them associated to different genetic loci (e.g. SOD1, ALS2, SETX, FUS, VAPB, ANG, TARDBP and others), but many of the forms have still not been associated with a particular gene. Sensomotoric hereditary neuropathies (Charcot-Marie-Tooth) are a large heterogeneous group of various hereditary neuropathies, which have also been associated with a wide spectrum of genetic mutations, such as PMP22, LITAF, EGR2, P0 protein, KIF1B, MFN2, RAB7 and others. It is also apparent that more genes are being implicated, mutations discovered, and phenotypes recognised and broadened. Therefore, a lot of continuing, additional research effort will be required in the coming years to illuminate pathogenic mechanisms that underlie motor neuron diseases and neuropathies and that could lead to new and improved treatments.

Progression of optic neuritis to multiple sclerosis in the County of Split-Dalmatia, Croatia.

The aim of this study was to determine the incidence of monosymptomatic optic neuritis (MON) and progression of MON to multiple sclerosis (MS) from the Mediterranean region of southern Europe in the County of Split-Dalmatia, Croatia during the 11 years period from 1991 to 2001. This study was made retrospectively on the 87 cases (59 female, aged 25.9 +/- 11.3 and 28 male aged 29.9 +/- 9.2) of MON, which were treated at the Department of Ophthalmology and Department of Neurology, Split, University Hospital, from January 1991 to December 2001. In each case the diagnosis was confirmed by a chart review and cases were ascribed to the data of admittance at hospital. The annual incidence of MON was 1.9 per 100,000 (95% CI, 0.4-3.5). The incidence among males was 1.2 (95% CI, 0-2.9) cases / 100,000 per year and 2.5 (95% CI, 0.1-4.9) among females. A significant seasonal variations in the incidence of MON was not found (chi2 = 6.81, p = 0.08). MS developed in 20 of 87 patients (22.9%) and median time was 25 (SE 8) months, (95% CI, 9-41) after the MON onset. After two years 12.6% of patients with MON developed MS, 20.6% after 5 years and 22.9% after 10 years. MS was slightly but not significantly more frequent in women than in men (chi2 = 0.72, p = 0.3). In conclusion, the progression of MON to MS in the County of Split-Dalmatia, Croatia was at a relatively moderate frequency.

Successful conservative and endoscopic treatment of pancreatic fistula due to splenectomy following blunt abdominal trauma.

Pancreatic fistula most commonly occur as a consequence of resective procedures and pseudocyst drainage, and rarely as a consequence of splenectomy. Conservative treatment can have good results, but it is long lasting and demands long hospitalization. In case of conservative treatment failure, operative treatment is indicated, but this has significantly higher percentage of morbidity and mortality. In selected cases, conservative treatment with somatostatine or octreotide, along with endoscopic procedure including the use of fibrin glue, significantly accelerates sanation of the fistula and reduces the length of hospitalization. We report a case of exterior pancreatic fistula due to splenectomy following blunt abdominal trauma, which were successfully treated with conservative (infusion, antibiotics, enteral nutrition, and octreotide) and endoscopic therapy. During ERCP papillotomy was performed, and good external drainage using drainage catheter was important in the patient outcome. Considering the initial secretion of 300 mL/24 h, our patient had a high output fistula. Despite that, fistula was quickly resolved after treatment. Our opinion is that octreotide therapy and unobstructed drainage of pancreatic duct into the duodenum were the most important in the rapid resolution of the fistula.

Hemifacial spasm in vertebrobasilar dolichoectasia.

Vascular compression of the facial nerve is a well recognized cause of hemifacial spasm (HFS). Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) provide vascular and brain tissue diagnosis in a single non-invasive examination and should be recommended as primary neuroradiological procedure in HFS. We report a rare case of symptomatic HFS caused by a vertebrobasilar dolichoectasia. A 49-year-old women experienced left hemifacial spasm for 10 months. MRI showed an enlarged vertebrobasilar dolichoectasia of the left vertebral artery which compressed the seventh cranial nerve at its exit from the caude pons. MRI is essential in establishing the cause of HFS. Together with MR angiography it shows the correlation among the seventh cranial nerve, blood vessels and the structures of mid-brain. Vertebrobasilar delichoestasia is just one of the blood vessel anomalies which causes HFS and which can be shown by MRI. HFS caused by vertebrobasilar dolichoectasia is quite rare.