Douglas R. Fredrick

Raccoon Roundworm (Baylisascaris procyonis) Encephalitis: Case Report and Field Investigation

Baylisascaris procyonis is a common and widespread parasite of raccoons in the United States and Canada. With large raccoon populations occurring in many areas, the potential risk of human infection with B procyonis is high. We report a case of severe raccoon roundworm (B procyonis) encephalitis in a young child to illustrate the unique clinical, diagnostic, and treatment aspects, as well as public health concerns ofB procyonis infection. Acute and convalescent serum and cerebrospinal fluid samples from the patient were tested for antibodies against B procyonis to assist in documenting infection. An extensive field survey of the patients residence and the surrounding community was performed to investigate raccoon abundance and to determine the extent of raccoon fecal contamination and B procyonis eggs in the environment. The patient evidenced serologic conversion, and the field investigation demonstrated a raccoon population far in excess of anything previously reported. There was abundant evidence of B procyonis eggs associated with numerous sites of raccoon defecation around the patients residence and elsewhere in the community. Because B procyonis can produce such severe central nervous system disease in young children, it is important that pediatricians are familiar with this infection. The public should be made aware of the hazards associated with raccoons and B procyonis to hopefully prevent future cases of B procyonisinfection.

Corticosteroid treatment of periorbital haemangioma of infancy: a review of the evidence

Aim: To systematically review the literature for corticosteroid treatment of periorbital haemangioma of infancy (HOI) and determine the relative efficacy and safety of oral, topical and intralesional corticosteroids. Methods: PubMed and the Cochrane Library were queried using keywords, and further articles were obtained by reviewing bibliographies. Inclusion and exclusion criteria were applied to create a subset of literature for analysis. Results: Systematic review revealed 81 original reports of periorbital HOI cases treated with steroids. Most studies and case series failed to document refractive error or visual acuity before and after treatment. Of cases meeting inclusion criteria, five patients received topical steroids and 25 patients received intralesional steroids. Patients receiving intralesional injections tended to demonstrate reduced astigmatism at follow up after treatment (21 of 28). The lack of studies with relevant objective ophthalmological end points prevented statistical meta-analysis. Conclusion: Intralesional injections may reduce refractive error, while the efficacy of topical steroids is unclear. Studies measuring objective ophthalmic data before and after treatment are sparse, and more studies are needed to determine the relative efficacy of different steroids. There are insufficient data to estimate the incidence of steroid side effects in patients treated with steroids for periorbital HOI or complications of intralesional injections in particular.

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1

BackgroundCongenital fibrosis of the extraocular muscles types 1 and 3 (CFEOM1/CFEOM3) are autosomal dominant strabismus disorders that appear to result from maldevelopment of ocular nuclei and nerves. We previously reported that most individuals with CFEOM1 and rare individuals with CFEOM3 harbor heterozygous mutations in KIF21A. KIF21A encodes a kinesin motor involved in anterograde axonal transport, and the familial and de novo mutations reported to date predictably alter one of only a few KIF21A amino acids – three within the third coiled-coil region of the stalk and one in the distal motor domain, suggesting they result in altered KIF21A function. To further define the spectrum of KIF21A mutations in CFEOM we have now identified all CFEOM probands newly enrolled in our study and determined if they harbor mutations in KIF21A.ResultsSixteen CFEOM1 and 29 CFEOM3 probands were studied. Three previously unreported de novo KIF21A mutations were identified in three CFEOM1 probands, all located in the same coiled-coil region of the stalk that contains all but one of the previously reported mutations. Eight additional CFEOM1 probands harbored three of the mutations previously reported in KIF21A; seven had one of the two most common mutations, while one harbored the mutation in the distal motor domain. No mutation was detected in 5 CFEOM1 or any CFEOM3 probands.ConclusionAnalysis of sixteen CFEOM1 probands revealed three novel KIF21A mutations and confirmed three reported mutations, bringing the total number of reported KIF21A mutations in CFEOM1 to 11 mutations among 70 mutation positive probands. All three new mutations alter amino acids in heptad repeats within the third coiled-coil region of the KIF21A stalk, further highlighting the importance of alterations in this domain in the etiology of CFEOM1.

Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin

Cobalamin C (cblC) defects result in decreased activity of both methylmalonyl-CoA mutase and N5-methyltetrahydrofolate:homocysteine methyltransferase (methionine synthase), with subsequent methylmalonic aciduria and homocystinuria. Patients typically show failure to thrive, developmental delay and megaloblastic anaemia. Vitamin B12 therapy has been beneficial in some cases. We report a now 4-year-old Hispanic girl with cblC disease documented by complementation analysis, with progressive neurological deterioration and worsening head MRI changes while on intramuscular hydroxocobalamin begun at age 3 weeks. Oral carnitine and folic acid were added at age 1 year. Blood levels of methylmalonic acid were reduced to treatment ranges. In the absence of acute metabolic crises, she developed microcephaly, progressive hypotonia and decreased interactiveness. Funduscopic examination was normal at age 13 months. At age 19 months, she developed nystagmus, and darkly pigmented fundi and sclerotic retinal vessels were observed on examination. Her neonatal head MRI was normal. By age 1 year, the MRI showed diffuse white-matter loss, with secondary third and lateral ventricle enlargement, a thin corpus callosum, and normal basal ganglia. At age 15 months, progression of the white-matter loss, as well as hyperintense globi pallidi, were present. Interval progression of both grey- and white-matter loss was seen at age 27 months. We therefore caution that progressive neurological deterioration and head MRI abnormalities may still occur in cblC disease, despite early initiation of hydroxocobalamin therapy and improvement in toxic metabolite concentrations in physiological fluids.

Complex limbal choristomas in linear nevus sebaceous syndrome

OBJECTIVE This study aimed to describe the clinical and histopathologic findings in four patients with complex limbal choristomas associated with linear nevus sebaceous syndrome (LNSS), a rare disorder including nevus sebaceous, seizures, and mental retardation, and often accompanied by ocular anomalies. DESIGN Small observational case series. METHODS A retrospective review of the clinical and histopathologic records of four patients. RESULTS Each of four patients had complex limbal choristomas in the setting of clinical and histopathologic LNSS. The limbal choristomas were multiple in three patients and bilateral in two patients. Most choristomas involved the superotemporal limbus (6 of 10), although nasal (3 of 10) and inferior (1 of 10) limbal tumors also were present. Three patients had significant corneal astigmatism or involvement of the central cornea requiring surgical removal of their choristomas, one accompanied by a lamellar keratoplasty and another accompanied by two consecutive penetrating keratoplasties. Each graft eventually vascularized, reducing vision. One patients vision was limited by amblyopia and another by occipital cortical dysgenesis with visual impairment. Histopathologic examination of the excised choristomas showed foci of lacrimal gland (3 of 4 patients), adipose tissue (3 of 4), neural tissue (1 of 4), cartilage (1 of 4), lymphoid follicles (1 of 4), skin adnexal tissue (1 of 4), and smooth muscle (1 of 4). Other associated ocular findings included an eyelid mass (1 of 4), colobomas of the eyelid (3 of 4), colobomas of the choroid and retina (2 of 4), nonparalytic strabismus (2 of 4), scleral ectasia (1 of 4), partial oculomotor palsy with ptosis and anisocoria (1 of 4), microphthalmia (1 of 4), hypertelorism (1 of 4), and cortical visual impairment (1 of 4). CONCLUSIONS Complex limbal choristomas, although rare, can occur in the setting of LNSS and can be associated with multiple ocular and systemic abnormalities. Visual prognosis appears poor in most cases despite aggressive management.

Application of diffusion tensor tractography in pediatric optic pathway glioma

OBJECT Magnetic resonance imaging is commonly used in diagnosis and surveillance for optic pathway glioma (OPG). The authors investigated the role of diffusion tensor (DT) tractography in assessing the location of visual pathway fibers in the presence of tumor. METHODS Data in 10 children with OPG were acquired using a 3T MRI generalized autocalibrating parallel acquisitions DT-echo planar imaging sequence (25 isotropic directions with a b value of 1000 seconds/mm(2), slice thickness 3 mm). Fiber tractography was performed, with seed regions placed within the optic chiasm and bilateral nerves on the coronal plane, including the tumor and surrounding normal-appearing tissue. Tracking was performed with a curvature threshold of 30°. RESULTS For prechiasmatic lesions, fibers either stopped abruptly at the tumor or traversed abnormally dilated nerve segments. Similar findings were seen with chiasmatic lesions, with an additional arrangement in which fibers diverged around the tumor. For each patient, DT tractography provided additional information about visual fiber arrangement in relation to the tumor that was not evident by using conventional MRI methods. Retrospective reconstruction of visual fibers in 1 patient with new postoperative hemianopia revealed an unexpected superior displacement of the optic tract that might have been helpful information had it been applied to preoperative planning or surgical navigation. CONCLUSIONS Optic pathway DT tractography is feasible in patients with OPG and provides new information about the arrangement of visual fibers in relation to tumors that could be incorporated into surgical navigation for tumor biopsy or debulking procedures.

Needle aspiration of a traumatic subperiosteal haematoma of the orbit

Subperiosteal haematomas of the orbit are an uncommon cause of proptosis after trauma. Complications include diplopia, persisting mass, and compressive optic neuropathy. Treatment options include observation, needle aspiration, and surgical evacuation. In symptomatic patients without indications for orbital exploration, treatment with needle aspiration is less invasive than surgical drainage. We report a case of a traumatic subperiosteal haematoma successfully treated with needle aspiration, demonstrating that in appropriate patients, needle aspiration can result in resolution of symptoms without a more invasive procedure. A 9 year old girl presented with diplopia 4 days after falling off a fence and striking the right side of her face. She denied decreased visual acuity, eye pain, or previous history of diplopia or proptosis. Her past medical and ocular histories were unremarkable. On examination, her visual acuity was 6/6 in …

Pediatric eye injuries due to nonpowder guns in the United States, 2002-2012

PURPOSE To identify epidemiologic trends in nonpowder gun-related pediatric eye injuries and to determine factors associated with severe injury requiring hospital admission. METHODS US emergency department data on pediatric eye injuries between 2002 and 2012 were reviewed using the National Electronic Injury Surveillance System. Literature review was conducted to determine trends in visual outcomes after treatment and use of eye protection. RESULTS In 2012 roughly 3,161 children were treated in US emergency departments for nonpowder gun-related eye injuries. Since 2010 rates of severe nonpowder gun pediatric eye injury have increased by over 500% (P = 0.039). Specifically, while rates of hospital admission due to paintball gun eye injury have dropped precipitously (P = 0.0077), rates of admissions for air gun eye injuries have increased by over 600% since 2010 (P = 0.033). Children sustaining eye injury due to air guns are more likely to be diagnosed and admitted with foreign body or ocular puncture injury. Roughly 28% of documented cases of airsoft or BB gun-related injury had visual acuity worse than 20/50 after initial treatment. Over 98% of injuries occurred without eye protection. CONCLUSIONS Air guns are rising in popularity and now account for the majority of pediatric eye injuries requiring hospital admissions. These eye injuries occur without ocular protection and may lead to permanent eye injury. Increasing regulations for eye protection, sales, and usage of air guns are needed to prevent serious pediatric eye injuries.

Retinal and Optic Nerve Hemorrhages in the Newborn Infant: One-Year Results of the Newborn Eye Screen Test Study

PURPOSE To report the birth prevalence, risk factors, characteristics, and location of fundus hemorrhages (FHs) of the retina and optic nerve present in newborns at birth. DESIGN Prospective cohort study at Stanford University School of Medicine. PARTICIPANTS All infants who were 37 weeks postmenstrual age or older and stable were eligible for screening. Infants with known or suspected infectious conjunctivitis were excluded. METHODS Infants born at Lucile Packard Childrens Hospital (LPCH) from July 25, 2013, through July 25, 2014, were offered universal newborn screening via wide-angle digital retinal photography in the Newborn Eye Screen Test study. Maternal, obstetric, and neonatal factors were obtained from hospital records. The location, retinal layer, and laterality of FH were recorded by 1 pediatric vitreoretinal specialist. MAIN OUTCOME MEASURES Birth prevalence of FH. Secondary outcomes included rate of adverse events, risk factors for FH, hemorrhage characteristics, and adverse events. RESULTS The birth prevalence of FH in this study was 20.3% (41/202 infants). Ninety-five percent of FHs involved the periphery, 83% involved the macula, and 71% involved multiple layers of the retina. The fovea was involved in 15% of FH cases (birth prevalence, 3.0%). No cases of bilateral foveal hemorrhage were found. Fundus hemorrhages were more common in the left eye than the right. Fundus hemorrhages were most commonly optic nerve flame hemorrhages (48%) and white-centered retinal hemorrhages (30%). Retinal hemorrhages were found most frequently in all 4 quadrants (35%) and more often were multiple than solitary. Macular hemorrhages most often were intraretinal (40%). Among the risk factors examined in this study, vaginal delivery compared with cesarean section (odds ratio [OR], 9.34; 95% confidence interval [CI], 2.57-33.97) showed the greatest level of association with FH. Self-identified ethnicity as Hispanic or Latino showed a protective effect (OR, 0.43; 95% CI, 0.20-0.94). Other study factors were not significant. CONCLUSIONS Fundus hemorrhages are common among newborns. They often involve multiple areas and layers of the retina. Vaginal delivery was associated with a significantly increased risk of FH, whereas self-identified Hispanic or Latino ethnicity was protective against FH in this study. The long-term consequences of FH on visual development remain unknown.

Alteration of cyclic frequency by botulinum toxin injection in adult onset cyclic esotropia

Cyclic strabismus is an uncommon disorder in which strabismus comes and goes alternately, consistently, and repetitively over a period of time. In a 48 hour cycle, a 24 hour period of orthotropia would be followed by a 24 hour period of constant strabismus. Cycles of 24 hour1 to 96 hour2 patterns have been reported. Most cases have been described in children, and the aetiology of cyclic strabismus is still speculative. A 57 year old woman was referred to Kaohsiung Medical University Hospital with the complaint of a periodic visual fluctuation of a “good day“ and a “bad day” alternately for about 6 months. She had diplopia on bad days. She did not have diabetes or hypertension. There was no history of strabismus, amblyopia, patching therapy, ocular trauma, or oculomotor palsy. She had received …