J. Raymond Buncic

Intraorbital Wood: Detection by Magnetic Resonance Imaging

The authors present two cases in which intraorbital wooden foreign bodies remained undetected after initial ophthalmologic examination and radiologic investigation which included plain orbital x-rays, orbital computed tomography (CT) scans, and, in one case, orbital ultrasound. In each case, subsequent magnetic resonance imaging (MRI) showed a well-delineated low-intensity lesion suggestive of a retained foreign body. Investigation of a case of suspected wooden foreign body in the orbit should include an MRI scan if there is no contraindication, and no foreign body has been defined on CT scan, ultrasound, or plain orbital films.

Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy.

Alström syndrome is an autosomal recessive disorder characterized by cone-rod dystrophy, obesity, hearing impairment, and diabetes caused by insulin resistance. By reviewing the charts of eight patients followed for periods of 2 to 22 years, we established the natural history of this syndrome during childhood. Five patients, in four families, were seen between the ages of 3 weeks and 4 months with a dilated cardiomyopathy, a previously unrecognized feature of the syndrome. Photophobia and nystagmus were first documented in the eight patients between the ages of 5 months and 15 months. In all patients, electroretinography initially showed a severe cone impairment with mild (2/8) or no (6/8) rod involvement. Electroretinograms, obtained again at ages 9 to 22 years for four patients, revealed extinguished rod-and-cone responses. Obesity developed during childhood in seven patients, in at least three of them before age 2 years. Hearing impairment (5/8) and diabetes/glucose intolerance (4/8) were diagnosed at the end of the first decade or during the second decade. This constellation of features should facilitate early diagnosis of the syndrome.

Natural History and Outcome of Optic Pathway Gliomas in Children

The optimal management of optic pathway gliomas (OPGs) is complicated by their variable natural history, the association with neurofibromatosis type 1 (NF1) and difficulties in defining progression and response to treatment.

Pediatric Horner syndrome

INTRODUCTION The purpose of this study was to define the etiologies of Horner syndrome in the pediatric population. METHODS A retrospective review was performed of the medical records of all pediatric Horner syndrome patients (< 18 years old) examined by the pediatric ophthalmology services at two large referral centers. RESULTS Seventy-three pediatric Horner syndrome patients were identified. Of these, 31 (42%) were congenital, 11 (15%) were acquired without surgical intervention, and 31 (42%) were acquired after a surgical procedure of the thorax, neck, or central nervous system. Of the congenital Horner syndrome patients, a history of delivery with the use of forceps, vacuum extraction, shoulder dystocia, fetal rotation, or postterm delivery was elicited in 16 patients (53%). Concomitant brachial plexus injury was identified in only 3 patients. Two patients had congenital varicella syndrome and 1 patient was diagnosed with neuroblastoma. This patient had a palpable supraclavicular mass and stridor. Diagnosis of the patients with acquired Horner syndrome included neuroblastoma (2), trauma (1), rhabdomyosarcoma (1), brainstem vascular malformation (1), disseminated sclerosis (1), and not determined (5). CONCLUSION In children with congenital Horner syndrome, a history of forceful manipulation of the infant during birth may reduce the need for extensive systemic evaluation. Without such history, a decision to proceed with further evaluation is made with consideration of the relative incidence of neuroblastoma by age and the physical findings. All acquired pediatric Horner syndrome patients without a known etiology require thorough evaluation because of the frequent association of serious underlying disease.

Retinal findings in children with intracranial hemorrhage

PURPOSE To identify the incidence of Tersons syndrome in children. DESIGN Prospective, observational case series. PARTICIPANTS Fifty-seven consecutive children with known intracranial hemorrhage from nonabuse causes. METHODS Dilated fundus examination to detect intraretinal hemorrhages or other abnormalities. MAIN OUTCOME MEASURES Presence or absence of intraretinal hemorrhages or other abnormalities. RESULTS Fifty-five patients (96%) had no evidence of intraretinal or vitreous hemorrhage. Two patients had abnormal retinal examinations. One patient had a single dot hemorrhage associated with presumed infectious white retinal lesions. The second patient had three flame and two deeper dot intraretinal hemorrhages after a motor vehicle accident (1.5% incidence of retinal hemorrhage). CONCLUSIONS Retinal hemorrhage is uncommon in children with intracranial hemorrhage not resulting from shaken baby syndrome. The maximal incidence of intraretinal hemorrhage in children with nonabuse intracranial hemorrhage is 8%.

Fibrous Dysplasia of the Orbit in Childhood: Clinical Features and Management

In 16 children with orbitocranial fibrous dysplasia confirmed histopathologically, facial asymmetry, orbital dystopia, and unilateral proptosis were the main presenting problems. Five children had radiological evidence of narrowing of the optic canal but only two developed optic atrophy and visual loss. One patient had persistent epiphora due to involvement of the bony nasolacrimal duct. Sixteen patients were treated by excision of the dysplastic bone and 15 had immediate craniofacial reconstruction. A good cosmetic and functional result was achieved in the majority of cases although transient vertical diplopia and minor degrees of ptosis occurred postoperatively in about a third. Fibrous dysplasia of the orbit is progressive in childhood and is best managed by radical surgery and reconstruction in a specialized craniofacial unit.

Idiopathic intracranial hypertension (pseudotumor cerebri) in pediatric patients

Improved evaluation of visual features of idiopathic intracranial hypertension in pediatric patients has resulted in the demonstration of optic neuropathy which may be reversible. A wide variety of etiologic associations should be investigated to provide definitive therapy; however, nonspecific means often will be required to lower intracranial pressure. It is hoped that a double-blind controlled trial of medical therapies and another for surgical therapies will be conducted to elucidate optimum management of this condition.

The natural history and ophthalmic involvement in childhood myasthenia gravis at the hospital for sick children.

OBJECTIVE To characterize signs, symptoms, and the natural history of myasthenic syndromes in pediatric patients. DESIGN Retrospective noncomparative case series. PARTICIPANTS Thirty-four patients with a diagnosis of myasthenia were identified from either the hospitals or treating physicians database. METHODS Retrospective chart review, clinical examination, and telephone interview. MAIN OUTCOME MEASURES Information pertaining to the ophthalmologic and neurologic examination, diagnostic interventions, and treatment was noted. Patients with active disease, attending during the study period, were examined at their outpatient visits. Those who no longer attended the hospital were contacted by means of a telephone interview to complete their follow-up. RESULTS Thirty-four children were found to have myasthenia. Two had transient neonatal myasthenia, which resolved quickly. Seven (20.6%) patients had congenital myasthenic syndromes (CMS) and 25 (73.5%, 19 females) were affected with autoimmune myasthenia gravis (AMG). In those patients with severe CMS, three showed signs of generalized weakness, including failure to thrive, frequent apneas, and aspirations. In four patients with mild CMS, eye signs were relatively more prominent. In all patients with CMS, strabismus, ophthalmoplegia, and ptosis were the main ophthalmologic signs and remained relatively constant. Fourteen (56%) patients with AMG had ocular signs and symptoms, and five of them progressed to systemic involvement in 7.8 months on average (range, 1-23). The remaining nine patients with ocular AMG had either strabismus or ptosis and were treated with pyridostigmine (nine patients) and prednisone (two patients). Patients with ocular AMG were seen at 78 months on average, those with systemic AMG at 85.6 months. Systemic AMG was seen in 16 patients. No thymomas were found in 14 patients who underwent thymectomy. Of the 25 patients with AMG, 8 are still being treated, 8 are in remission for an average of 65.2 months and are asymptomatic, 4 patients are receiving long-term immunosuppressants (1 has likely sustained permanent damage to her extraocular muscles with complete ophthalmoplegia and ptosis), and 4 have been lost to follow-up. Finally, one patient died after aspiration because of bulbar weakness. CONCLUSIONS Patients with CMS varied in the degree of severity. Apneic attacks, aspiration, and failure to thrive may obscure the diagnosis. Compared with AMG, their ophthalmologic signs and symptoms were usually permanent. Visual signs and symptoms were usually prominent in those patients with active AMG, but those in remission were asymptomatic. More than half of the patients with juvenile AMG had ocular symptoms. Generalization occurred in a minority in an average of 7.8 months. Patients entered remission after approximately 2 years of treatment and were visually asymptomatic. This study suggests that long-term permanent damage to the extraocular muscles as a result of juvenile AMG is rare. Myasthenia gravis is a life-threatening disease as evidenced by the death of one of our patients. Many of these patients are first seen by the ophthalmologist who can aid the diagnosis, screen for amblyopia, and monitor the patients response to therapy.

Pediatric Devic's Neuromyelitis Optica

PURPOSE Neuromyelitis optica (Devics disease) is a rare clinical syndrome of unilateral or bilateral optic neuritis (ON) and transverse myelitis (TM) occurring within an 8-week time interval. All reports mainly involve adults and describe a poor neurologic and ophthalmic clinical course without specific attention to their few pediatric cases. The purpose of this study was to develop a clinical profile in the pediatric population. METHODS A retrospective chart review over 15 years revealed nine cases of neuromyelitis optica. A literature search was undertaken and all cases of pediatric neuromyelitis optica were tabulated and analyzed separately. RESULTS The average age of onset was 7 years with a preceding viral prodrome in all patients. The optic neuritis was bilateral in eight of nine patients (89%). Visual loss ranged from 20/30 to light perception. Moderate anterior disc edema was seen in all 17 affected eyes. The clinical course was characterized by a rapid visual and neurologic recovery. The average follow up was 5.3 years, with five patients followed for 6 years or longer. None of the nine patients had any visual or neurologic recurrence or other significant subsequent illness. Visual system follow up showed 20/20 in each eye of all patients with mild optic atrophy, identified in 47% of eyes. CONCLUSIONS Devics neuromyelitis optica occurs in the pediatric population as a distinct clinical entity with an excellent prognosis for visual and systemic recovery and no future recurrence or long-term sequelae.

Aicardi syndrome: Natural history and possible predictors of severity

Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are girls with severe cognitive and physical handicaps, and epilepsy. Fourteen patients with Aicardi syndrome, seen at The Hospital for Sick Children, Toronto, Ontario, Canada, between 1975 and 1992, were reviewed to document the natural history of the disease and obtain life-table estimates of survival. The relationship between 28 neurologic features present in infancy and clinical outcome, as measured by mobility and cognitive function also was examined. Life-table analysis indicated that the estimated survival rate was 76% at 6 years of age and 40% at 15 years of age. Three of the 14 girls (21%) could walk or crawl and 4 (29%) had some language ability. None of the 28 neurologic features was predictive of ultimate clinical outcome. This information should be discussed with parents of children with Aicardi syndrome.