Observations on the Electroencephalogram and Photosensitivity of South African Black Albinos

An EEG survey of 70 normal South African black albinos was carried out to determine whether the lack of pigment in the retinae and eyelids would have any effect on the photoconvulsive response during intermittent photic stimulation. Only 2 out of the 70 (2.85%) showed photosensitivity on intermittent photic stimulation. The results do not confirm the "pigmentary protection theory." Other intrinsic inhibitory factors must be responsible for the level of the photoconvulsive threshold.     

日光照射诱发的系统性红斑狼疮的研究

目的　探讨日光照射诱发的系统性红斑狼疮 (SLE)的临床特点。方法　分析 5 2例对日光过敏的由日光照射诱发的SLE患者及 40例无日光过敏的SLE患者的临床资料。结果　日光照射诱发的系统性红斑狼疮患者其首发症状以关节痛和面部红斑为主 ,而无日光过敏的SLE患者其首发症状以肾脏病变和关节痛为主 ,日光照射诱发的SLE患者颧部红斑、抗ds -DNA抗体阳性率明显高于无日光过敏组SLE患者 (P <0 0 1)。而心包炎、胸膜炎、肾脏病变、贫血低于无日光过敏的SLE患者 (P <0 0 1)。两者口腔溃疡、关节炎、神经系统病变、白细胞减少、血抗Sm抗体及抗核抗体阳性率无明显差异。结论　应重视日光照射诱发的SLE患者的临床特点     

Lupus erythematosus tumidus in Japan: a case report and a review of the literature

Abstract

We report here the case of a 48-year-old Japanese woman showing plaque-forming scattered indurative papules on her face, buttock and extremities. Histological examination revealed a large amount of interstitial mucin deposition, and negative direct immunofluorescence was observed. The provocative phototesting reproduced the skin lesion, and the patient was diagnosed with lupus erythematosus tumidus (LET). A review of ten LET cases previously reported in Japan revealed that all of these cases had clinicopathological features similar to those reported for European cases, although not all of the former fully satisfied the European criteria.     

Extensive hydroa vacciniforme

Hydroa Vaciniforme is a very rare photodermatosis that is mainly seen in childhood. An 18 year old female student reported that since the age of 5 she has been suffering necrotic lesions and vesicles lesions in exposed areas, leaving asymptomatic varioliform scars, which worsened in summer. Light microscopy showed epidermal necrosis with lymphocytic infiltration. Sunscreens were prescribed with light improvement.     

Mutation in the mitochondrial tRNAIle gene causes progressive myoclonus epilepsy

PurposeThe group of the rare progressive myoclonic epilepsies (PME) include a wide spectrum of mitochondrial and metabolic diseases. In juvenile and adult ages, MERRF (myoclonic epilepsy with ragged red fibres) is the most common form. The underlying genetic defect in most patients with the syndrome of MERRF is a mutation in the tRNALys gene, but mutations were also detected in the tRNAPhe gene.MethodHere, we describe a 40 year old patient with prominent myoclonic seizures since 39 years of age without a mutation in the known genes who underwent intensive clinical, genetic and functional workup.ResultsThe patient had a slight mental retardation and a severe progressive hearing loss based on a defect of the inner ear on both sides. Ictal electroencephalography (EEG) showed bilateral occipital and generalized spikes and polyspikes induced and aggravated by photostimulation. A cranial magnetic resonance imaging (cMRI) detected a global cortical atrophy of the brain and mild periventricular white matter lesions. The electromyography (EMG) was normal but the muscle biopsy showed abundant ragged red fibres. Sequencing of the mitochondrial DNA from the skeletal muscle biopsy revealed a novel heteroplasmic mutation (m.4279A>G) in the tRNAIle gene which was functionally relevant as tested in single skeletal muscle fibre investigations.ConclusionMutations in tRNAIle were described in patients with chronic progressive external ophthalmoplegia (CPEO), prominent deafness or cardiomyopathy but, up to now, not in patients with myoclonic epilepsy. The degree of heteroplasmy of this novel mitochondrial DNA mutation was 70% in skeletal muscle but only 15% in blood, pointing to the diagnostic importance of a skeletal muscle biopsy also in patients with myoclonic epilepsy.     

Occipital seizures induced by Intermittent Photic Stimulation in Dravet syndrome

PurposeDravet syndrome (DS) is a rare disorder with seizure onset in the first year of life, typically beginning with prolonged febrile hemiclonic seizures or generalized tonic–clonic seizures. Photosensitivity is reported in more than 40% of patients. We present two cases of DS in which we had the chance to record occipital seizures induced by Intermittent Photic Stimulation (IPS).MethodWe retrospectively reviewed the medical records of 32 children affected by DS. All clinical notes were reviewed in order to evaluate the occurrence of seizures induced by IPS.ResultsAmong the 32 reviewed clinical records, two patients with IPS-induced seizures were found. In both patients seizures originated from the occipital-temporal region. Clinical history was characterized by generalized tonic–clonic seizures, and myoclonia. At the age respectively of 11 months and 20 months they presented a prolonged focal seizure induced by IPS at a frequency of 10 Hz. During the follow-up they additionally presented with hypomotor seizures, also induced by IPS during laboratory EEG examinations. The semiology of hypomotor seizures resembled what is described as “complex partial status”, a type of non-convulsive status with ictal discharges arising unilaterally from the occipito-temporal region.ConclusionBased on available literature, IPS induced occipital seizures have not been reported during the first year of life. Although pathophysiological features are not yet completely understood, both photosensitivity and occipital seizures should be considered in the diagnostic evaluation in DS. The documentation of IPS induced occipital seizures might contribute to widen the clinical and neurophysiological spectra of DS.     

Photosensitivity induced by lomefloxacin versus other fluoroquinolones: A meta-analysis

Lomefloxacin may be more likely than other fluoroquinolones to cause photosensitivity. However, the rate of photosensitivity is variable and a meta-analysis has yet to be performed. The aim of this meta-analysis is to compare the rate of photosensitivity between outpatients who received lomefloxacin and those who received other fluoroquinolones. PubMed, EMBASE, Cochrane Library databases and trial registries were searched for randomized controlled trials (RCTs) of outpatients through June 12, 2019. The study outcome was the rate of photosensitivity based on the intention-to-treat principle, estimated by risk difference (RD) as the primary analysis and Peto odds ratio (Peto OR) as the secondary analysis, with 95% confidence intervals (CIs) using random-effects models. Four RCTs (total of 2295 patients) were included in this meta-analysis. A statistically higher risk of photosensitivity was found with lomefloxacin than with other fluoroquinolones (RD, 3.4%; 95% CI, 0.7%–6.2%; P-value = 0.013; I² = 10.9%). The odds of photosensitivity was also significantly higher with lomefloxacin (Peto OR, 5.81; 95% CI, 3.34 to 10.11; P-value <0.001; I² = 0%). This meta-analysis of RCTs found significantly higher photosensitivity with lomefloxacin compared to other fluoroquinolones. Considering this finding and given its lack of additional efficacy compared to other fluoroquinolones, lomefloxacin as a fluoroquinolone option should potentially be reconsidered.