Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.

Identification of this additional patient from a distant part of the originally described pedigree (Synofzik et al. 2014) confirms pathogenicity of DNAJC3 mutations. Hypothyroidism is a newly identified feature in addition to the known phenotype (diabetes with multisystemic neurodegeneration).

Sonographic analysis of laryngeal elevation during swallowing.

BACKGROUND: Swallowing disorders are common symptoms in many neurological diseases. The aim of this pilot-study was to analyse vertical laryngeal excursion during swallowing non-invasively using ultrasound sonographic techniques in patients with dysphagia compared with healthy volunteers. METHODS: Data were obtained from 42 healthy volunteers (mean age: 57 +/- 19 years) and 18 patients (mean age: 63 +/- 8 years) with dysphagia due to different neurological diseases using a 7.5 MHz linear array probe, which was placed in longitudinal position above the larynx. This allowed visualization of the contour and the acoustic shadow of the hyoid bone and the thyroid cartilage. The distance between the hyoid bone and the upper end of the thyroid cartilage during laryngeal elevation was readily assessed by video-mode function. RESULTS: In healthy subjects we found a mean distance of 220 (+/- 30) mm at rest; the shortest distance during swallowing of 5 or 10 ml water was 85 (+/- 11) mm and represents a reduction of 61 % (+/- 3) under physiological conditions. The mean relative laryngeal elevation in the patients with neurogenic dysphagia was reduced to only 42 % (+/- 10) (p < 0.0001). CONCLUSIONS: Ultrasound is a viable and non-invasive method in the investigation of laryngeal elevation during swallowing. It allows direct visualization of impaired laryngeal motion in patients with neurogenic dysphagia.

[Intravenous immunoglobulin and prednisolone treatment of cryoglobulinemic polyneuropathy]. / Intravenöse Immunglobulin- und Prednisolon-Behandlung bei kryoglobulinämischer Polyneuropathie.

A 71-year-old man with cryoglobulinemia associated with severe symmetrical sensorimotor polyneuropathy was successfully treated with intravenous immunoglobulin (IVIG) and a corticosteroid. Within 2-3 months, he developed distal motor and sensory deficits and burning feet deteriorating after cold exposure. On examination, symmetric hypesthesia and hypalgesia were found along with bilateral loss of vibration and position sense, loss of ankle jerks, and paralysis of the pretibial muscles with step-page gait. The laboratory exam revealed elevated cryoglobulin levels and reduced complement C4. Nerve conduction studies were consistent with a severe axonal sensorimotor polyneuropathy. Sural nerve biopsy showed chronic neuropathy with an acute component. The patient underwent a combined treatment with prednisolone (initially 100 mg) and intravenous immunoglobulin. His condition markedly improved after almost a year of treatment. Unfortunately, the treatment with intravenous immunoglobulin had to be interrupted due to an allergic reaction after the sixth application.

Color-coded duplex ultrasonography of the origin of the vertebral artery: normal values of flow velocities.

The introduction of color-coded duplex ultrasonography has improved the ease of performing ultrasound investigations of the vertebral arteries. So far, normal values of flow velocities have been reported only for the intertransverse region of the vertebral artery (V2 segments). Atherosclerotic disease at the origin of the vertebral arteries (V0 segment) is frequent and is one of the risk factors for vertebrobasilar ischemic disease. Normal values of flow velocities of the vertebral artery origin are needed to assess pathologic findings, such as vertebral artery origin stenosis or dissection. The aim of this study was to describe the normal flow velocities of vertebral artery origin (V0 segment) and the pre- (V1 segment) and intertransverse (V2 segment) part in 50 age-matched neurologic patients (mean age 54) without ischemic cerebral disease. The V0 segment could be visualized in 46 persons (92%) on the right side and in 43 (86%) on the left. The peak systolic blood velocity ranged from 30 to 100 cm/s (mean 63.6 +/- 17.5 cm/s), and end-diastolic blood velocity ranged from 10 to 35 cm/s (mean 16.1 +/- 5.1 cm/s). Analysis of side-to-side differences showed no significant differences of flow velocities in all subjects. It is concluded that color duplex ultrasonography is a feasible method to insonate the origin of the vertebral artery, and that nomogram data could be established. It is suggested that color-coded duplex ultrasonography of the vertebral artery origin should be performed in all patients with clinical symptoms or signs of vertebrobasilar ischemic disease. Nevertheless, further studies are needed to determine the normal and pathologic values of flow velocities of the vertebral artery origin and their reproducibility.

[Spontaneous intracranial hypotension syndrome. Clinical, neuroradiological and cerebrospinal fluid findings]. / Spontanes Liquorunterdrucksyndrom. Klinische, neuroradiologische, nuklearmedizinische und Liquor-Befunde.

We report 11 patients with orthostatic headache due to spontaneous intracranial hypotension. Nausea (3 patients) and abducens palsy (2 patients) were the main additional symptoms. Ten patients had CSF pleocytosis (6 to 43 white cells/microliter) and/or increased protein (581 to 1668 mg/l). CT and/or MRI documented bifrontal accentuated subdural hygromas and hematomas in 5 patients. MRI also documented diffuse meningeal gadolinium enhancement in all 4 patients examined, and descent of the brain in one. Cisternography was done in 9 patients and revealed a decreased or absent activity over the convexities and early detection of the tracer in the bladder in all, and a CSF leak at the cervicothoracal junction in 2 patients. Most patients improved with bed rest, increased fluid intake (oral or intravenous), steroids, and/or epidural blood patch. Subdural hematomas increased in 2 patients and have to be drained. Spontaneous intracranial hypotension is due to a CSF leak followed by decreased CSF volume and hydrostatic CSF pressure changes. The locations of the leaks are mainly cervical or at the cervicothoracal junction. MRI always documents diffuse meningeal gadolinium enhancement. Treatment of choice is an epidural blood patch. Surgical treatment may be needed in patients with subdural hematomas or meningeal diverticula. Prognosis is typically good, but subdural hematomas may occasionally lead to an increased intracranial pressure.

Tamponamento cardíaco como manifestaçäo predominante no lúpus eritematoso sistêmico / Cardiac tamponade as the predominant manifestation in systemic lupus erythematosus

Os autores relatam as características clínicas, o diagnóstico e o seguimento de uma paciente com lúpus eritematoso sistêmico (LES), em que o tamponamento cardíaco foi a principal manifestaçäo. Discute-se a ausência de alguns sinais de tamponamento cardíaco, com hipofonese de bulhas cardíacas e taquidispnéia, bem como a baixa freqüência de tamponamento cardíaco no LES

Effects of epidural analgesia on scalp-recorded somatosensory evoked potentials to posterior tibial nerve stimulation.

The effect of epidural analgesia with plain bupivacaine 0.5% on somatosensory evoked potentials (SEP) to electrical stimulation of the posterior tibial nerve was examined in six patients. Epidural analgesia significantly increased onset time and latencies of the early components in SEP, while the amplitudes decreased. These results suggest that SEP may be valuable in the objective evaluation of possible differential neural effects of local anaesthetic agents following epidural or intrathecal administration.

Nerve conduction, tactile sensibility, and the electromyogram after suture or compression of peripheral nerve: a longitudinal study in man.

In three patients sequential studies were performed of sensory and motor conduction after complete section and suture of the median nerve at the wrist and in one patient after partial section of the nerve. The sensory potential evoked by stimuli to digits III and I and recorded proximal to the suture line at the wrist appeared after a delay of three to four months, corresponding to a growth rate of 1.5-2.0 mm per day. From early in the course of regeneration the sensory potential was dispersed in 40 components. In the adult patient the cumulative amplitude increased for two years slowly and thereafter at a two times faster rate. Amplitude and tactile sensibility were normal after 40 months, but the sensory potential was still five times more dispersed than normal. The overall increase in the amplitude of the sensory potentials in children aged 10 and 12 years was three times faster than in adults. In the adults and in the children the maximum sensory conduction velocity was 10-25% of normal. It then increased at 3% per month during the first two years, and thereafter 10 times slower. Forty months after suture in the adults and 13-19 months after suture in the children the conduction velocity had reached 65-75% of normal. The pattern of discrete electrical activity during voluntary effort and the prolonged duration of motor unit potentials indicate persistent enlargement of the reinnervated motor units by peripheral sprouting. The sensory potential recovered five times faster after a compressive nerve lesion than after section and suture as seen in another patient with an affection of the ulnar nerve at the elbow. Normal tactile sensibility was attained 10 times faster than after section and suture. Maximum sensory and motor condution velocity recovered within one year from 60-70% to 80-90% of normal.

A comparative controlled study between carbamazepine and diphenylhydantoin in psychomotor epilepsy.

A double-blind study of the antiepileptic effect and side effects of carbamazepine (CARB) and diphenylhydantoin (DPH) was undertaken in 38 patients with psychomotor epilepsy and without grand mal epilepsy except for a single previous seizure. The patients were treated with CARB and DPH only, each in periods of 16 weeks and with a crossover of 4 weeks. The initial dosage of 6 mg/kg DPH or 15 mg/kg CARB was corrected according to the serum values aiming at therapeutic intervals of 8-16 mg/1 DPH and 6-10 mg/1 CARB. The trial had to be discontinued in 12 patients. The effect of the two drugs in preventing psychomotor seizures was the same. Some patients, however, had considerably fewer seizures while on CARB; others had fewer seizures on DPH. It seems advisable, therefore, to try both drugs separately before proceeding to combined medication. During CARB treatment the selected therapeutic interval was more easily reached and maintained than during DPH. During the latter treatment, one-third of the monthly serum value determinations were below the level in spite of dosage corrections. Side effects were equally mild and occurred as often during DPH as during CARB treatment.

A double blind study of carbamazepine and diphenylhydantoin in temporal lobe epilepsy.

In a double 0lind study no difference was found between carbamazepine and diphenylhydantoin with regard to efficacy in preventing temporal lobe seizures, i.e. partial seizures with complex symptomatology, when the drugs were given without other medication for periods of 16 weeks, and when the serum concentrations were within selected therapeutic levels corresponding to usual therapeutic dosage. Some patients, however, had considerably fewer seizures on carbamazepine, some on diphenylhydantoin. It therefore seems advisable to try both drugs separately, before using a combined medication.