Autoimmune encephalitis is a heterogeneous group of disorders characterized by cognitive and behavioral decline due to an immune reaction against neuronal antigens. There is increasing evidence that autoimmune encephalitis represents a significant subgroup of encephalitis in children, which are defined by the presence of antibodies against important proteins involved in neurotransmission. The distinction between the different causes of autoimmune encephalitis is important for the patient, as there is a marked difference in therapeutic response; specifically, autoimmune encephalitis associated with the classical onconeuronal antibody is unresponsive to treatment, while autoimmune encephalitis in association with antibodies agagainst surface proteins may respond to immunomodulation. Autoimmune encephalitis may be classified into forms with prevalent involvement of the grey matter (polioencephalitis), white matter (leucoencephalitis), or endothelial cells (vasculitis). The subject of this review includes polioencephalitis, which encompasses syndromes in which there is a loss and/or alteration of neuronal function and in which autoantibodies can be detected in the serum or CSF.

Background:

Bilateral sensorineural hearing loss associated with recurrent urticarial skin lesions may be signs of underlying Muckle-Wells syndrome. Previous reports have described the hearing loss to be progressive in nature. Method: To our knowledge, this paper presents the first published case of sudden onset, bilateral sensorineural hearing loss associated with urticarial vasculitis due to underlying Muckle-Wells syndrome.

Results:

The patient underwent a cochlear implantation with a modest outcome.

Conclusion:

Cochlear implantation may help to rehabilitate sudden hearing loss associated with this condition, but early diagnosis may allow treatment with interleukin-1β inhibitors such as anakinra.

Severe retinal vascular occlusions resulting in blindness is a rare occurrence in patients with systemic lupus erythematosus (SLE). Herein, we report a case of a 33-year-old female who developed combined central retinal artery occlusion, retinal vein occlusion, and choroidopathy and rapidly became completely blind in both eyes within a week. The electroretinogram revealed a severely attenuated a-wave and b-wave, indicating a profound dysfunction of both choroidal and retinal circulation, respectively. The current case demonstrates objectively the functional impact of severe choroidopathy in SLE for the first time. Patients with unilateral blindness due to combined retinal/choroidal vascular obstructions should be monitored carefully to ensure adequate anticoagulant therapy in an attempt to guard the vision in the fellow eye.

Objectives:

Hypocomplementemic urticarial vasculitis syndrome (HUVS) is characterized by recurrent urticaria along with dermal vasculitis, arthritis, and glomerulonephritis. Systemic lupus erythematosus (SLE) develops in more than half of the affected subjects, while etiopathogenesis is unknown. Methods/

Results:

The aim of this study is to find the causative DNA mutations in two families with autosomal recessive HUVS to unveil the pathogenesis and to aid in the laboratory diagnosis. By combining autozygosity mapping with whole-exome sequencing in a family with three affected children, we identified a homozygous frameshift mutation, c.289_290delAC, in DNASE1L3. We subsequently found another homozygous DNASE1L3 mutation leading to exon skipping, c.320+4delAGTA, in an unrelated family. Detected mutations lead to the loss of function, either with nonsense mediated mRNA decay or abolished endonuclease activity demonstrated by a plasmid nicking assay.

Conclusion:

These results show that HUVS is caused by mutations in DNASE1L3, encoding an endonuclease, which has been previously associated with SLE. © 2013 American College of Rheumatology.

OBJECTIVE:

The purpose of this study is to report a single institution's experience with abdominal coarctation in children and report associated comorbidities.

BACKGROUND:

Abdominal coarctation is a rare condition, accounting for less than 2% of aortic coarctations. Single patients with abdominal coarctation have been reported with additional vascular disease in pediatric patients.

METHODS:

Our echocardiography database between January 2001 and January 2012 was searched to identify all patients with abdominal coarctation. Relevant clinical data were reviewed.

RESULTS:

Nine patients were identified with abdominal coarctation. Median age at diagnosis was 4.7 years (IQR 1.1-14.3 years). Additional cardiac diagnoses were found in three patients: one had moderate aortic regurgitation and aortic root dilatation; one had mild aortic regurgitation, severe mitral regurgitation, and atrial flutter; and one had a thoracic coarctation previously repaired. Eight patients (89%) had an associated noncardiac comorbidity. Comorbidities included: Takayasu arteritis (n = 3), systemic lupus erythematosus (n = 1), epidermal nevus syndrome (n = 1), abdominal hemagioma (n = 1), Williams syndrome (n = 1), and renal artery stenosis (n = 2). Intervention was performed in four patients (57%): two underwent surgical grafting and two had angioplasty with stent placement. Patients with surgical grafting required no further intervention, whereas both patients who underwent angioplasty and stenting required further stent placement.

CONCLUSION:

Abdominal coarctation is a rare anomaly. It is frequently associated with other vascular abnormalities. Vasculitis should be suspected in children with abdominal coarctation. All patients, even if treated, require continued close observation.

Purpose:

To present the short-term favorable clinical results with the dexamethasone intravitreal implant in a patient with florid idiopathic retinal vasculitis, aneurysms, and neuroretinitis syndrome (IRVAN).


Methods:

A 26-year-old man presented with significant bilateral deterioration of vision due to vitreous hemorrhage and neuroretinitis with a background of vasculitis and neovascularization. The patient was initially treated with high doses of oral steroids (80 mg prednisolone), which were gradually tapered, and also received extensive argon laser photocoagulation in ischemic areas in both eyes. Despite vigorous treatment and an initial positive response to treatment, pars plana vitrectomy was eventually needed to address the recurrent vitreous hemorrhages in the left eye. Consequently, visual acuity improved from 0.1 to 0.2 (Snellen) and there was no relapse of vitreous hemorrhage. Persistent macular edema was noted, however, and it was decided to treat with a dexamethasone 0.7 mg intravitreal implant.


Results:

Following the dexamethasone implant OS, visual acuity improved significantly from 0.2 to 0.5 (Snellen), the patient reported much less distortion, and there was marked reduction in central retinal thickness from 467 to 234 microns. The patient remains in remission without any exudation in the macula at 4 months follow-up.


Conclusion:

Dexamethasone 0.7 mg intravitreal implant appears to be a safe and effective solution in the treatment of macular edema in patients with IRVAN syndrome and could possibly be a treatment option for other cases of inflammatory induced macular edema.

Worldwide, 480-520 million people are chronically infected with hepatitis B or C virus. In addition to their effects in the liver, chronic hepatitis viral infections may have serious extra hepatic manifestations. These manifestations have been more widely studied in chronic HCV infection, where they are more frequently described, but they have been also reported chronic HBV infection.Among those, of great interest are the ocular manifestations caused by the HBV or HCV infection or induced by chronic hepatitis therapy. These we attempted to review.A PubMed search was conducted using the terms hepatitis, ocular, eye.This article describes the ocular symptoms related to HBV and HCV hepatitis such as xerophthalmia, Mooren's ulcer and retinopathy as well as other rare manifestations caused by either the infection or the therapy.The ocular manifestations of HCV infections best supported by the literature include a dry eye syndrome similar to Sjögren's syndrome, and ischemic retinopathy caused by either HCV-induced vasculitis or treatment with interferon. There are no serious ocular manifestations of HBV infection other than dry eye syndrome. Special consideration should be held for possible connection between HBV vaccine and uveitis.

AIM:

The aim of this study was to describe the magnetic resonance imaging (MRI) findings and the neurological and neuropsychological outcomes in paediatric, diarrhoea-associated haemolytic-uraemic syndrome (D+HUS) with central nervous system impairment treated with eculizumab, a monoclonal antibody.

METHOD:

The 14-month single-centre prospective study included seven children (three males, four females; age range 16mo-7y 8mo; median age 3y 7mo) with typical D+HUS and acute neurological impairment. In the acute phase of the disease, neurological assessment and brain magnetic resonance imaging (MRI), including measurement of the apparent diffusion coefficient (ADC), were performed, and neuropsychological evaluation and brain MRI were also carried out 6 months after disease onset.

RESULTS:

In the acute phase, basal ganglia and white matter abnormalities with ADC restriction were a common and reversible MRI finding. In all the surviving patients (5/7), follow-up MRI after 6 months was normal, indicating reversible lesions. Clinical and neuropsychological evaluations after 6 months were also normal.

INTERPRETATION:

This specific brain MRI pattern consisting of an ADC decrease in basal ganglia and white matter without major T2/fluid-attenuated inversion recovery (FLAIR) injury may be a key finding in the acute phase of the disease in favour of a vasculitis hypothesis. These reversible lesions were associated with a good neurological outcome. These results call for further evaluation of the potential role of eculizumab in the choice of treatment for severe D+HUS, particularly in the case of early neurological signs.

Behçet's disease is a chronic autoimmune disease with vascular complications that are most frequently manifested as thromboembolism in veins and pseudoaneurysm in arteries. We report the case of a 13-year-old boy admitted for clinical and biological signs of rheumatic fever associated with chest pain. The clinical examination found heart sounds with a discrete systolic murmur of mitral regurgitation. The electrocardiogram showed a microvoltage with diffuse repolarisation disorder. Biologically, he had inflammatory syndrome. Transthoracic echocardiography showed circumferential pericardial effusion with anterosepto-apical hypokinesia of the left ventricle with systolic dysfunction, and a minimal mitral regurgitation. The patient was treated by corticotherapy and antibiotherapy. The outcome was marked by orogenital aphthous ulceration and decreased visual acuity related to intermediate uveitis. The retinal angiography showed a vasculitis. The late appearance of this symptom led to the right diagnosis of Behçet's syndrome. Transthoracic echocardiography showed a hypokinetic dilated cardiomyopathy left ventricular with septo apical and anterior akinesia and severe systolic dysfunction, with a defect of the inferior septal with a collar communicating the left ventricle with a giant pseudo aneurysm. Magnetic resonance imaging showed a giant pseudoaneurysm communicating with the left ventricle. The coronary computed tomography was normal. The patient had undergone surgical treatment for the pseudoaneurysm with good outcomes.

Connective tissue disorders increase the risk of malignancy; conversely, they may manifest as rheumatological paraneoplastic syndromes due to an underlying malignancy. We describe a patient with limited scleroderma whose rapid disease progression coincided with the discovery of a renal tumor. A female patient, aged 75 years, presented with a 3-month history of progressive difficulty grasping objects, unsteadiness, dyspnea, xerostomia, xerophthalmia, and significant weight loss. She had a 10-year history of gastroesophageal reflux and Raynaud's phenomenon. Pertinent physical examination findings included facial telangiectasias, bibasilar inspiratory rales, sclerodactyly, and absent pinprick and vibratory sensation in her toes. She also had swelling and tenderness in several metacarpophalangeal and interphalangeal joints and both ankles. A renal mass was demonstrated on abdominal computed tomography. A left partial nephrectomy was performed, confirming an unclassified type of renal cell carcinoma, along with a focal proliferative crescentic pauci-immune glomerulonephritis. Medical therapy with rituximab, pulse methylprednisolone, and prednisone led to improvement in her symptoms. The patient's presentation is consistent with a rapid progression of pre-existing limited scleroderma with the development of new rheumatological symptoms, including vasculitis. We propose that this progression was secondary to paraneoplastic stimulation by the renal cell carcinoma. Clinicians should consider looking for a malignancy in patients with connective tissue disorders who present with a myriad of new symptoms.