Presentation and outcomes of paediatric craniopharyngioma in the west of Scotland: a 25 year experience.

PURPOSE: Craniopharyngiomas can be aggressive leading to significant complications and morbidity. It is not clear whether there are any predictive factors for incidence or outcomes. Our aim was therefore to record the incidence, presentation, characteristics and progression of paediatric craniopharyngiomas in the West of Scotland. METHOD: Retrospective case note review for children diagnosed with paediatric craniopharyngiomas at the Royal Hospital for Children Glasgow, from 1995 to 2021 was conducted. All analyses were conducted using GraphPad Prism 9.4.0. RESULTS: Of 21 patients diagnosed with craniopharyngiomas, the most common presenting symptoms were headaches (17/21, 81%); visual impairment (13/21, 62%); vomiting (9/21, 43%) and growth failure (7/21, 33%). Seventeen (81%) patients underwent hydrocephalus and/or resection surgery within 3 months of diagnosis, usually within the first 2 weeks (13/21, 62%). Subtotal resection surgeries were performed in 71% of patients, and median time between subsequent resection surgeries for tumour recurrence was 4 years (0,11). BMI SDS increased at 5 year follow-up (p = 0.021) with 43% being obese (BMI > + 2SD). More patients acquired hypopituitarism post-operatively (14/16, 88%) compared to pre-operatively (4/15, 27%). A greater incidence of craniopharyngiomas were reported in more affluent areas (10/21, 48%) (SIMD score 8-10) compared to more deprived areas (6/10, 29%) (SIMD score 1-3). Five patients (24%) died with a median time between diagnosis and death of 9 years (6,13). CONCLUSION: Over 25 years the management of craniopharyngioma has changed substantially. Co-morbidities such as obesity are difficult to manage post-operatively and mortality risk can be up to 25% according to our cohort.

Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.

This case report describes a girl who presented antenatal arthrogryposis and postnatal hypotonia, generalized and respiratory weakness, joint deformities particularly affecting the lower limbs and poor swallow. By 5 months, cataracts, abnormal electroretinograms, visual evoked potentials (VEPs) and global developmental impairments were recognized. No causative variants were identified on targeted gene panels. After her unexpected death at 11 months, gene-agnostic trio whole exome sequencing revealed a likely pathogenic de novo BICD2 missense variant, NM_001003800.1, c.593T>C, p.(Leu198Pro), confirming the diagnosis of spinal muscular atrophy lower extremity predominant type 2 (SMA-LED2). We propose that cataract, abnormal electroretinograms and VEPs are novel features of SMA-LED2.

Rod bipolar cell dysfunction in POLG retinopathy.

OBJECTIVE: To report the clinical and novel electrophysiological features in a child with POLG-related sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO). METHODS: The proband, a male child of Indian descent, underwent serial systemic and ophthalmological evaluations from birth until 14 years of age. Eye examinations included visual acuity and extraocular movement assessments, fundus photography, spectral domain optical coherence tomography and full-field electroretinography (ERG). Detailed genetic testing was also performed. RESULTS: The child carried a homozygous mutation in POLG (c.911T > G/p.Leu304Arg) and manifested systemic features such as seizures, headaches, areflexia, hypotonia, myopathy and vomiting. The child's distance visual acuity was 0.50 and 0.40 LogMAR in the right and left eyes, respectively. Bilateral ophthalmoplegia and ptosis were observed at 5 years of age. The dark-adapted (DA) ERG responses to 2.29 cd s m-2 and 7.6 cd s m-2 stimuli showed a markedly reduced b/a ratio; an electronegative configuration was noted to a DA 7.6 ERG. CONCLUSION: This is the first documented case of an electronegative ERG in a POLG-related disorder consistent with generalized rod ON-bipolar dysfunction. The rest of the proband's systemic and ophthalmological features were consistent with SANDO but some features overlapped with other POLG-related disorders such as Alpers-Huttenlocher syndrome and autosomal dominant progressive external ophthalmoplegia demonstrating the wide phenotypic overlap expected due to POLG mutations.

21st century medical education: critical decision-making guidance through smartphone/tablet applications-the Lothian pilot.

Introduction: In starting a new clinical placement, doctors in training must become aware of and apply standard operating procedures, as well as learn guidelines, simultaneously adjusting to new patient presentations, environments and personnel. This transition is thought to correlate with increased risk to patient safety, notably during the annual UK changeover. Mobile technologies are increasingly commonplace throughout the National Health Service. Clinicians at all levels are employing medical technology and applications (apps) with minimal local guidance. We set out to test the feasibility and utility of offering medical apps to out-of-hours (OOH) practitioners as an aid to clinical decision-making at point of patient contact. The theorised benefits were threefold: clinical education-real time support for clinical decision-making as one component of deliberate practice to build expert performance; decreased administrative burden-updating and accessing current guidelines; and service development-readily accessible feedback from users. Method: We provided 32 devices in our emergency departments and OOH environments. The devices were preloaded with apps approved by our medical education department and clinical service leads to be used in support of care delivery. Results: We surveyed 123 clinical staff prior to the pilot discovering that 65% had used mobile apps to aid their decision-making. During our project, we saw the number of clinical users expand with our data series, suggesting the apps most useful to care delivery for this group of service providers. Future developments: There was huge enthusiasm for the project and we hope to maintain a clinician-led environment.

Effect of anterior capsulorhexis optic capture of a sulcus-fixated intraocular lens on refractive outcomes.

PURPOSE: To assess the effect of optic capture on the achieved refractive outcome after complicated cataract surgery with a sulcus-fixated intraocular lens (IOL). SETTING: Sunderland Eye Infirmary, Sunderland, United Kingdom. DESIGN: Single-unit, single-surgeon retrospective case-note review. METHODS: The case notes were reviewed of patients who had vitrectomy for retained lens matter after phacoemulsification or phacoemulsification with posterior capsule rupture and sulcus fixation of a posterior chamber IOL by the same surgeon. Capsulorhexis capture was attempted in all patients. RESULTS: Fifty-eight eyes of 58 patients were included. The mean age was 74 years (range 47 to 99 years). Twenty-four patients (41%) had optic capture, and 34 patients (59%) had an IOL placed in the sulcus without optic capture. There was no statistically significant difference in age, axial length, or IOL power used between the groups. The mean refractive difference was +0.34 diopter (D) with optic capture and -0.40 D without optic capture (P=.0002). CONCLUSIONS: The mean refractive difference for a sulcus IOL with and without optic capture was 0.74 D, equating to an IOL power change of approximately 1.00 D. The refractive results were very similar to the surgeon's personal refractive outcomes using the same IOLs in the bag (mean error +0.28), suggesting that anterior capsulorhexis optic capture gives similar results to placing an IOL in the bag. FINANCIAL DISCLOSURE: Drs. Steel and Allen have received traveling expenses from Alcon Laboratories, Inc. to attend international meetings and have attended Alcon advisory board meetings. No author has a financial or proprietary interest in any material or method mentioned.

Small-gauge transconjunctival vitrectomy with phacoemulsification in the pupillary plane of dense retained lens matter on perfluorocarbon liquids after complicated cataract surgery.

BACKGROUND: To evaluate the visual outcomes, efficacy, and complications of 23-gauge pars plana vitrectomy followed by phacoemulsification using torsional ultrasound of dense retained lens matter on perfluorocarbon liquids (PFCLs) after complicated cataract surgery. METHODS: The case notes of 34 consecutive patients operated upon with retained lens matter after complicated cataract surgery by one surgeon were reviewed. Twenty-one of the 32 cases were able to be managed using the vitrectomy cutter alone, but 13 cases with dense lens matter were managed using 23-G vitrectomy followed by torsional ultrasound of the retained lens via the original corneal incision after floating it up to the pupillary plane on PFCLs. Case notes of these 13 patients were reviewed to ascertain clinical features, results, and any complications. RESULTS: The mean age of the 13 patients was 79 years. The procedure was completed in all cases without using an intravitreal fragmatome. All cases were aphakic prior to vitrectomy surgery. Ten patients had a sulcus fixated IOL inserted at the time of vitrectomy and three had an angle-supported anterior chamber IOL inserted. Mean post-operative visual acuity at 3 months was 0.24 (median 6/9). Eleven of the 13 patients (85 %) had a best postoperative corrected visual acuity of ≥6/12. One patient developed cystoid macular oedema that was successfully treated. There were no cases of retinal detachment. CONCLUSION: The outcome of 13 patients operated on with transconjunctival vitrectomy with phacoemulsification of dense retained lens matter on top of PFCLs is described. The technique was used successfully, with good visual acuity outcomes and a low complication rate.

Bilateral tonic pupil secondary to migraine in a child.

Bilateral idiopathic tonic pupil is characterized by enlarged pupils, poor response to light and accommodation, strong and tonic response to near stimuli, vermiform movements of the iris on slit-lamp examination, and cholinergic supersensitivity. The authors present a case of a 10-year-old girl who was referred with abnormal pupils and complained of headaches. After ophthalmological and neurological examination, she was diagnosed as having migraine and secondary idiopathic bilateral tonic pupils. To the authors' knowledge, this is the first case of a child with bilateral Adie's pupil secondary to migraine to be reported.