Purpose A key property to consider in all genetic tests is clinical utility, the ability of the test to influence patient management and health outcomes. Here we assess the current clinical utility of genetic testing in diverse pediatric inherited eye disorders (IEDs). Methods Two hundred one unrelated children (0–5 years old) with IEDs were ascertained through the database of the North West Genomic Laboratory Hub, Manchester, UK. The cohort was collected over a 7-year period (2011–2018) and included 74 children with bilateral cataracts, 8 with bilateral ectopia lentis, 28 with bilateral anterior segment dysgenesis, 32 with albinism, and 59 with inherited retinal disorders. All participants underwent panel-based genetic testing. Results The diagnostic yield of genetic testing for the cohort was 64% (ranging from 39% to 91% depending on the condition). The test result led to altered management (including preventing additional investigations or resulting in the introduction of personalized surveillance measures) in 33% of probands (75% for ectopia lentis, 50% for cataracts, 33% for inherited retinal disorders, 7% for anterior segment dysgenesis, 3% for albinism). Conclusion Genetic testing helped identify an etiological diagnosis in the majority of preschool children with IEDs. This prevented additional unnecessary testing and provided the opportunity for anticipatory guidance in significant subsets of patients.

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Though meningiomas are common neoplasms of the nervous system, the occurrence of multiple meningiomas in different neuraxial compartments is rather rare. We report a case of a 62-year-old female who presented with spastic paraparesis in both lower limbs, and was found to have multiple homogenously enhancing tumors of dorsolumbar spine. Cranial magnetic resonance imaging (MRI) revealed multiple bilateral supratentorial meningiomas. She underwent multiple level laminectomy and total removal of spinal tumors after which power improved in both lower limbs. Histopathology revealed psammomatous meningiomas. Only around 19 cases of multiple cranial and spinal meningiomas have been reported, of which, only five cases have more than one spinal meningioma. The implication of the incidence of such multiple meningiomas in the same patient with relevance to investigations and decision making are discussed along with a brief review of literature of cases with multiple spinal and cranial meningiomas.

A case of a 38 year old fully conscious male, who presented with bilateral basal ganglia haematoma and extradural haematoma, is presented and the relevant literature is briefly reviewed.

Background Traumatic posterior fossa hematoma is a rare entity. Traumatic posterior fossa hematomas are associated with considerable morbidity and mortality and their surgical management remained controversial. Methods From August 2011 to August 2017, approximately 5,100 patients with head injury were managed. Authors reviewed clinical and radiological findings, management criteria, and outcome of posterior fossa hematoma in 21 patients. Results Out of 21 cases, 13 survived with our management. The Glasgow Coma Scale (GCS) on admission was higher in favorable group than in poor outcome group. Factors associated with Glasgow Outcome Scale in two groups were status of fourth ventricle, basal cisterns, subarachnoid hemorrhage (SAH), hematoma volume, and their location (hemispheric or midline). Similarly, associated supratentorial lesions, age, gender, lesions in other parts of body, and timing from injury to reporting to hospital were taken into consideration. Conclusion The factors correlated with patient outcome were age, sex, mode of injury, GCS at admission, associated intracranial hematomas, associated SAH, hematoma volume, hematoma location, basal cisterns, status of fourth ventricle, and associated multiple injuries on other body parts. It is hereby concluded that timely surgical intervention should be employed whenever indicated without delay. Posterior fossa hematomas were rarely observed in the pediatric age group.

We report the success of oral cyclosporine therapy in a patient with severe vision-threatening vernal keratoconjunctivitis. A child presented with severe allergy which was not controlled with topical steroids, cyclosporine and mast cell stabilizers. Oral steroids were required repeatedly to suppress inflammation. Child showed a dramatic improvement and stabilization with oral cyclosporine therapy. Oral cyclosporine therapy can be tried in severe vision-threatening allergy refractory to conventional therapy.

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A case of colonic atresia associated with Hirschsprung's disease is described in a full term neonate presented with intestinal obstruction. Laparotomy revealed type III colonic atresia. Histopathological examination suggested total aganglionosis in the postatretic colonic segment. The child recovered satisfactorily following two stage Duhamel - Martin's pull through procedure. Authors present their experience with the present case and the pertinent literature.