Nausheen Khuddus

Propranolol for the treatment of orbital infantile hemangiomas.

Purpose: To evaluate the treatment of orbital infantile hemangiomas with systemic (oral) propranolol. Methods: This study was a retrospective observational case series of 5 infants who were diagnosed with orbital infantile hemangiomas between March and July of 2009. Results: The average age at presentation was 3.1 months (3 weeks to 9 months). The patients received oral propranolol, with dosage varying among study centers. The patients were treated for an average of 7.1 months. Treatment of 5 infantile hemangioma patients with oral propranolol produced a significant reduction in the size of the hemangioma in 4 (80%) of the patients and a minimal improvement in one patient. No patient had significant adverse events during the treatment period. Conclusion: Oral propranolol may be an effective treatment for orbital infantile hemangiomas.

Intravitreal bevacizumab treatment of bilateral peripapillary choroidal neovascularization from optic nerve head drusen

Choroidal neovascular membranes are a rare cause of decreased vision in children with optic nerve head drusen. We present a case of bilateral choroidal neovascular membranes associated with optic nerve head drusen in a 5-year-old boy who was successfully treated with a combination of focal laser photocoagulation and intravitreal bevacizumab.

Effect of a Binocular iPad Game vs Part-time Patching in Children Aged 5 to 12 Years With Amblyopia: A Randomized Clinical Trial.

Importance A binocular approach to treating anisometropic and strabismic amblyopia has recently been advocated. Initial studies have yielded promising results, suggesting that a larger randomized clinical trial is warranted. Objective To compare visual acuity (VA) improvement in children with amblyopia treated with a binocular iPad game vs part-time patching. Design, Setting, and Participants A multicenter, noninferiority randomized clinical trial was conducted in community and institutional practices from September 16, 2014, to August 28, 2015. Participants included 385 children aged 5 years to younger than 13 years with amblyopia (20/40 to 20/200, mean 20/63) resulting from strabismus, anisometropia, or both. Participants were randomly assigned to either 16 weeks of a binocular iPad game prescribed for 1 hour a day (190 participants; binocular group) or patching of the fellow eye prescribed for 2 hours a day (195 participants; patching group). Study follow-up visits were scheduled at 4, 8, 12, and 16 weeks. A modified intent-to-treat analysis was performed on participants who completed the 16-week trial. Interventions Binocular iPad game or patching of the fellow eye. Main Outcomes and Measures Change in amblyopic-eye VA from baseline to 16 weeks. Results Of the 385 participants, 187 were female (48.6%); mean (SD) age was 8.5 (1.9) years. At 16 weeks, mean amblyopic-eye VA improved 1.05 lines (2-sided 95% CI, 0.85-1.24 lines) in the binocular group and 1.35 lines (2-sided 95% CI, 1.17-1.54 lines) in the patching group, with an adjusted treatment group difference of 0.31 lines favoring patching (upper limit of the 1-sided 95% CI, 0.53 lines). This upper limit exceeded the prespecified noninferiority limit of 0.5 lines. Only 39 of the 176 participants (22.2%) randomized to the binocular game and with log file data available performed more than 75% of the prescribed treatment (median, 46%; interquartile range, 20%-72%). In younger participants (aged 5 to <7 years) without prior amblyopia treatment, amblyopic-eye VA improved by a mean (SD) of 2.5 (1.5) lines in the binocular group and 2.8 (0.8) lines in the patching group. Adverse effects (including diplopia) were uncommon and of similar frequency between groups. Conclusions and Relevance In children aged 5 to younger than 13 years, amblyopic-eye VA improved with binocular game play and with patching, particularly in younger children (age 5 to <7 years) without prior amblyopia treatment. Although the primary noninferiority analysis was indeterminate, a post hoc analysis suggested that VA improvement with this particular binocular iPad treatment was not as good as with 2 hours of prescribed daily patching. Trial Registration http://www.clinicaltrials.gov Identifier: NCT02200211.

Optic Nerve Findings in CHILD Syndrome

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare disorder characterized by birth defects of several organ systems, including the skin, viscera, musculoskeletal system, and central nervous system. The authors present the first report of CHILD syndrome with ocular manifestations in a patient with progressive bilateral optic nerve atrophy.

Occlusive Patch Therapy for Reduction of Seizures in Dravet Syndrome

A 2-year-old Caucasian male presented with a history of nystagmoid eye movements. He also had a history of seizures that were poorly controlled with medications. The parents felt the seizures were exacerbated by exposure to light as they were worse on waking up from a nap. The patient was born at 38 weeks gestational age with a birth weight of 8 lbs 13 oz and birth height of 20.25 inches. His gestational history was complicated only by preeclampsia, for which his mother underwent induction of labor. At 9 months of age, he had his first febrile seizure leading to status epilepticus. His past medical history until that time was only significant for recurrent acute otitis media, for which he had been on amoxicillin treatment at the time of his seizure. He was evaluated by neurology, underwent an electroencephalogram (EEG), and was diagnosed with generalized epilepsy of unknown origin. His parents were given a prescription for diazepam by rectal suppository to be given at the onset of a seizure. The patient continued to have seizures and was placed on multiple anti-epileptic medications, including topiramate (Topamax), levetiracetam (Keppra), clonazepam (Klonopin), and lamotrigine (Lamictal). These were all ineffective and he was finally started on valproic acid (Depakene), which was changed to divalproex sodium (Depakote), which partially controlled his seizures. Around 15 to 18 months of age, the patient began regressing developmentally. Although he had been walking previously, he resorted back to crawling and could no longer verbally communicate with his parents with wellformed words. His receptive language skills surpassed those of expressive language. The parents continued to notice that the seizures appeared to be triggered by exposure to bright light and began to keep him in totally dark environments and made him wear sunglasses constantly. Given the intractable seizures and photosensitivity, genetic testing was performed, which revealed that the patient had a severe-type mutation in the SCN1A gene. Both parents tested negative for the same SCN1A gene mutation indicating a de novo mutation. The patient was diagnosed with Dravet syndrome previously known as severe myoclonic epilepsy of infancy. At his first consultation with ophthalmology, a complete examination could not be performed because of seizure activity with exposure to light when attempting a Hirschberg examination. It was noted that he had jerky nystagmoid movements of the eyes and that his eyes crossed. A trial of alternating monocular patching was initiated where each eye was patched for 6 hours in an alternating pattern. The patient’s parents noted a dramatic improvement in his seizure activity after a few months of starting the patching. The number of seizures decreased from 20 seizures in 2007 to 12 seizures in 2008, the year he was being patched. All these seizures occurred while he was not wearing the eye patch. In addition, his tolerance for dim, low-wattage light had also improved. He returned for another eye examination in 2008 and had been seizure-free for 5 months prior to the examination, which was a marked improvement. At this examination his vision was estimated to be 20/80 in the right eye (9.8 cy/cm at 38 cm) and 20/150 in the left eye (4.8 cy/cm at 38 cm) using Teller acuity cards. At a subsequent examination, 3 months later, his vision had improved to 20/50 (9.8 cy/cm at 55 cm) in each eye. He could also tolerate a full eye examination without seizure activity with each eye evaluated separately and the other eye patched.

Morning Glory Disc Anomaly and Optic Nerve Coloboma

The morning glory disc anomaly (MGDA) is a congenital optic nerve disorder characterized by an enlarged, excavated disc surrounded by an annulus of chorioretinal pigmentary deposition. First distinguished as a unique optic nerve disorder by Kindler in 1970, the term morning glory syndrome was applied for its ophthalmoscopic resemblance to the morning glory flower. MGDA is usually unilateral and is twice as common in females as males. Systemic findings with MGDA include sphenoid basal encephalocele and ipsilateral neurovascular dysgenesis. Optic nerve colobomas are most frequently noted at the optic disc. Colobomas of the optic disc appear as a white, sharply demarcated excavation within an enlarged disc. The defect is decentered inferiorly, reflecting the position of the embryonic fissure relative to the primitive epithelial papilla. The inferior neuroretinal rim is often thin or absent, and the defect may extend inferiorly to the adjacent choroid or retina. Colobomas with prelaminar involvement are rare and associated with microphthalmos and orbital cysts. While MDGA is considered by some to be within a spectrum of excavated optic disc anomalies, many neuro-ophthalmologists today consider MGDA distinct from similar appearing optic nerve anomalies, including optic nerve colobomas. The etiology of the 2 disorders and the possibility of an overlap in pathogenesis remains controversial. To date, there have been no reports of combined MGDA and optic nerve coloboma. Cennamo et al reported a case of coexistence of MGDA with lens colobomas but no colobomas noted elsewhere. We report a child with ipsilateral MGDA and optic nerve coloboma.

Uveitis Presenting With Decreased Vision and Leukocoria

www.jpedhc.org HISTORY OF PRESENT ILLNESS The parents of a 6-year-old girl bring her in to the office because she appears to behavingdifficulty seeing. They havenoticed that she is sitting very close to the television and does not seem to be able to see things at a distance that others see well. Recently, her kindergarten teachers have been reporting that she is not able to see the board. The parents are not sure of the exact date when the symptomsbegan. They think theproblemhas beenprogressively worsening during the past year. They also say her eyes have been mildly red intermittently. Her left eye started wandering intermittently approximately 2 months ago and now remains deviated outward constantly. She denies having sustained any trauma to either eye. She reports having occasional headaches and light sensitivity, especially when outdoors.

Index of SuspicionCase 1: Perinasal and Perioral Rash in a 2-year-old GirlCase 2: Intractable Myoclonic Seizures in a 2-year-old BoyCase 3: A 2-month-old Girl Who Has Failure to Thrive, Neutropenia, and Anemia

* ALT: : alanine aminotransferase AST: : aspartate aminotransferase BUN: : blood urea nitrogen CBC: : complete blood count CNS: : central nervous system CSF: : cerebrospinal fluid CT: : computed tomography ECG: : electrocardiography ED: : emergency department EEG: : electroencephalography ESR: : erythrocyte sedimentation rate GI: : gastrointestinal GU: : genitourinary Hct: : hematocrit Hgb: : hemoglobin MRI: : magnetic resonance imaging WBC: : white blood cell A 2-year-old white girl presents with a 2-month history of a rash around her mouth and nose. On examination, she has perioral and perinasal pink papules and papulopustules, which coalesce to form thin plaques, as well as occasional periorbital papules and a small area of crusting in the perinasal region (Fig 1). The rash is nonpruritic but accompanied by a burning sensation. Notably, the patient’s vermilion border is spared. Figure 1. Perioral and perinasal pink papules and papulopustules that have coalesced to form thin plaques, occasional periorbital papules, and a small area of crusting in the perinasal region. Her past medical history is significant for a congenital cystic adenomatoid malformation (surgically resected at 6 weeks of age), atopic dermatitis, seasonal rhinitis, and asthma, requiring fluticasone propionate (44 mcg/puff twice daily) via a metered dose inhaler with spacer and face mask for the past 6 months (Fig 2). The dermatitis has been treated with over-the-counter cream and ointment without relief, but no topical products containing hydrocortisone have been used. The patient is seen by a dermatologist for the cause of the persistent facial rash, and her history and findings on physical examination lead to a presumptive diagnosis. Figure 2. Patient using metered dose inhaler with spacer and face mask. A 2-year-old boy presents with a history of seizures since the age of 9 months. The first episode started as a febrile seizure and led to status epilepticus. He was diagnosed as having generalized epilepsy of unknown origin after evaluation by a neurologist and EEG. The seizure activity initially was generalized and tonic-clonic in nature. He would drop and exhibit jerking movements of the arms and legs, followed by generalized tonic posturing, accompanied also by rolling back of the eyes, drooling, and oral cyanosis. Recently, however, his seizures have consisted of myoclonic jerks, mainly of the …

Microcephaly, lymphedema, chorioretinal dysplasia (MLCRD) syndrome.

306 Volume 26 Number 4 CASE PRESENTATION A male infant presented to clinic for his 2-month wellbaby visit. His medical history revealed that he was the product of a full-term uncomplicated pregnancy. At birth, his mother had negative maternal serologies and was rubella immune. The infant was born via caesarean sectiondeliverywithout complicationsasa result of failure to progress. His newborn examination was significant only for posterior cranial molding and ‘‘amniotic banding’’ across his toes bilaterally. His family historywas not significant for any knownmedical or genetic conditions. At this visit, his mother reported that he was a ‘‘good baby’’ and was breastfeeding well, and she had no concerns. Vital signs for this visit were within normal limits. However, his head circumference, at 34 cm, was less than the third percentile. His weight and height were normal at the 35th and 50th percentiles, respectively (Figure 1). On general appearance he looked well and was making good eye contact. His head appeared small in relation to his body, he had slight occipital molding across the lambdoidal sutures, andhis fontanel was small at 1 cm in both directions. He had a red reflex bilaterally and tracked pastmidline. Results of an examination of the nose, pharynx, and neck were normal. His ears were normally placed but appeared large for his head. His lungs were clear to auscultation, and he had no murmurs. His abdomen was soft and he had a well-healed umbilicus and no hepatosplenomegaly. His testes were descended bilaterally, and he was circumcised. His hips were stable, and his central and distal tone appeared normal. He had a normal grasp and normal Moro and tonic neck reflexes. Examination of his toes revealed linear creases that extended across all five digits bilaterally, but his toes were formed normallywith normal nail beds and normal function.Other thanmild seborrhea over the frontal aspect of his scalp,