Triad of torticollis, photophobia and epiphora in a child with a posterior fossa tumor

[english] A 7-month-old Caucasian girl presented with an acquired, spasmodic torticollis to the right side with the head tilted downwards, photophobia and epiphora. Diagnostic work-out revealed a posterior fossa pilocytic astrocytoma. The symptoms improved after surgical resection. There is evidence of internuclear connections between cranial nerves II, V and VII acting as important mechanisms in this triad (Okamoto et al. 2010)

Spastic paraplegia with crystalline retinopathy: A recognisable phenotype?

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Detailed clinical phenotyping of oxalate maculopathy in primary hyperoxaluria type 1 and review of the literature

PURPOSE: To describe the structural and functional characteristics of oxalate retinopathy. METHODS: Five patients with molecularly confirmed primary hyperoxaluria (PH) Type 1 underwent multimodal retinal imaging (spectral-domain optical coherence tomography, white light, and HRA multispectral imaging) and functional testing, including color vision testing, Goldmann perimetry, and International Society for Clinical Electrophysiology of Vision standard electrophysiological testing. RESULTS: Four distinct retinal phenotypes are presented. One patient with a c.[33dupC]; c.[731T>C] mutation showed bilateral perifoveal retinal pigment epithelium hyperplasia. The fundus in the four other patients, all of whom share an identical homozygous c.[33dupC] mutation, ranged from normal to bilateral widespread distribution of retinal crystals and confluent macular retinal pigment epithelium hyperplasia with subfoveal fibrosis. All patients who had developed end-stage renal disease showed some sign of retinopathy, more severe with earlier onset. CONCLUSION: Retinopathy in PH Type 1 shows considerable interindividual variation. No correlation between genotype and retinal phenotype was detected. Oxalate crystals at the level of the retinal pigment epithelium seem to be irreversible. A proposed clinical grading system of oxalate maculopathy, based on a literature review, may provide clinicians with a tool to better predict visual function and prognosis

Defining a therapeutic range for adalimumab serum concentrations in the management of pediatric noninfectious uveitis, a step towards personalized treatment

Abstract Background Adalimumab is currently considered the most efficacious anti-TNFα agent for childhood noninfectious uveitis (NIU). The objective of this study was to define a therapeutic range for adalimumab trough levels in the treatment of childhood NIU. Methods A retrospective, observational, pilot study of 36 children with NIU aged < 18 years, treated with adalimumab. Serum adalimumab through levels and adalimumab anti-drug antibodies (ADA) were analysed at least 24 weeks after start adalimumab. Results Adalimumab trough levels were significantly higher in complete responders 11.8 μg/mL (range 6.9–33.0) compared to partial or non-responders 9,2 μg/mL (range 0–13.6) (p = 0,004). Receiver–operator characteristics analyses with an area under the curve of 0,749 (95% CI, 0,561–0,937) defined 9.6 µg/mL as the lower margin for the therapeutic range. This cut-off corresponds with a sensitivity of 88% and a specificity of 56% (positive predictive value, 85%; negative predictive value, 62.5%). A concentration effect curve defined 13 µg/mL as the upper margin. Approximately one-third (30.5%) of patients had an adalimumab trough concentration exceeding 13 µg/mL. Free ADA were observed in 2 patients (5.5%). Conclusions A therapeutic range of adalimumab trough levels of 9.6 to 13 µg/mL, which corresponds with an optimal clinical effect, was identified. Therapeutic drug monitoring may guide the optimisation of treatment efficacy in children with NIU in the treat-to-target era

Congenital fixed dilated pupils due to ACTA2-multisystemic smooth muscle dysfunction syndrome

Congenital fixed dilated pupils (congenital mydriasis) is characterized by hypoplasia or aplasia of the iris muscles, with absence of iris between the collarette and pupillary border, creating a scalloped pupillary margin. This condition has been reported in a multisystemic smooth muscle cell dysfunction syndrome, combined with congenital patent ductus arteriosus, cerebrovascular disease (Moya-moya-like), coronary artery disease, thoracic aorta aneurysm, and dysfunction of smooth muscle cells in organs throughout the body. All affected individuals carry a p.R179H heterozygous mutation in the ACTA2 gene. We add to the ophthalmologic involvement with 3 more patients. Congenital fixed dilated pupils is a rare condition and should alert ophthalmologists to the possibility of the coexistence of systemic life-threatening disorders. 2014 by North American Neuro-Ophthalmology Society.SCOPUS: ar.jinfo:eu-repo/semantics/publishe