Marijean Miller

Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene

Blau syndrome (MIM 186580) is a rare autoinflammatory, familial granulomatous condition that occurs secondary to a single amino acid mutation of the NOD2/CARD15 gene on chromosome 16p12-q21. We report the case of a 2.5-year-old girl who presented for ophthalmic examination in the setting of rash and synovitis. Initially, small, evanescent, ovoid corneal subepithelial opacities unique to Blau syndrome were observed. She later developed a fulminant panuveitis that responded to immunomodulatory therapy. Subsequent genetic testing confirmed the diagnosis of Blau syndrome. Despite immunosuppression, at almost 7 years of age, she continues to have persistent panuveitis with vision of 20/20.

Subepidermal Calcified Nodules

Subepidermal calcified nodules (SCNs) are uncommon, benign lesions usually presenting in childhood which occasionally involve the eyelids. Only a handful of cases have been reported in the ophthalmologic literature. We present 2 cases, one in a 7-year-old Hispanic boy, the other in a 13-year-old African American boy, with eyelid lesions which were clinically thought to be possible juvenile xanthogranuloma, but which on histopathologic examination showed the characteristic features of SCNs.

Primary follicular lymphoma of the conjunctiva in a 6-year-old child

Primary follicular lymphomas arise in the lymph nodes or spleen or in extranodal sites. Ocular adnexal tumors are rare. We report the case of a 6-year-old boy with a 3-mm conjunctival mass. The lesion was resected with clean surgical margins. The child has been closely monitored and has remained cancer free for 3 years.

Blood flow velocities are reduced in the optic nerve of children with elevated intracranial pressure.

The authors previously used spectral Doppler imaging to determine optic nerve blood flow velocities in normal children. In the current study, we measured central retinal artery and central retinal vein blood flow velocities by spectral Doppler imaging in 38 healthy children and 18 children with elevated intracranial pressure between ages 4 and 17. We found central retinal artery systolic blood flow velocity was significantly reduced in children with elevated increased intracranial pressure; ANOVA P = .01 (normal children 8.9 cm/s [SD 1.1] versus children with elevated intracranial pressure 7.5 cm/s [SD 1.3]). Central retinal vein maximal blood flow velocity was also significantly reduced in children with elevated intracranial pressure; ANOVA P < .02 (normal children 4.2 cm/s [SD 0.9] versus children with elevated intracranial pressure 3.6 cm/s [SD 0.7]). Spectral Doppler imaging is a noninvasive test well tolerated in children that identifies blood flow velocity changes in elevated intracranial pressure.

Spectral Doppler Imaging of Vessels in the Optic Nerve of Children

Elevation and blur of the optic disc margin with hyperemia and flame hemorrhages are classic features of papilledema that may not be present with mild elevations of the cerebral spinal fluid pressure. In children, the disc can be dramatically elevated with indistinct margins in pseudopapilledema. Children with equivocal disc features are sedated for neuroimaging and lumbar puncture to measure opening intracranial pressure.

Doppler Ultrasonography of the Central Retinal Vessels in Children With Brain Death

Objective: The purpose of this observational study is to explore if bedside Doppler ultrasonography of the central retinal vessels has the potential to become an ancillary study to support the timely diagnosis of brain death in children. Design: Seventeen-month prospective observational cohort. Setting: Forty-four bed pediatric medical and surgical ICU in an academic teaching hospital. Patients: All children 0–18 years old who were clinically evaluated for brain death at Children’s National Health Systems were enrolled and followed until discharge or death. Interventions: None. Measurements and Main Results: All patients had at least one ophthalmic ultrasound within 30 minutes of each brain death examination. The central retinal artery peak systolic blood flow velocity, resistive index, pulsatility index, and Doppler waveforms were evaluated in each patient. Thirty-five ophthalmic ultrasounds were obtained on 13 patients, 3 months to 15 years old, who each had two clinical examinations consistent with brain death. The average systolic blood pressure during the ultrasound examinations was 102 mm Hg (± 28), diastolic blood pressure 65 mm Hg (± 24), mean arterial pressure 79 mm Hg (± 23), heart rate 133 beats/min (± 27), temperature 36°C (± 0.96), arterial CO2 35 mm Hg (± 9), and end-tidal CO2 23 mm Hg (± 6). For all examinations, the average peak systolic velocity of the central retinal artery was significantly decreased at 4.66 cm/s (± 3.2). Twelve of 13 patients had both resistive indexes greater than or equal to 1, average pulsatility indexes of 3.6 (± 3.5) with transcranial Doppler waveforms consistent with brain death. Waveform analysis of the 35 ultrasound examinations revealed 11% with tall systolic peaks without diastolic flow, 17% with oscillatory flow, 29% showed short systolic spikes, and 23% had no Doppler movement detected. A rippling “tardus-parvus” waveform was present in 20% of examinations. Conclusion: This study supports that the combination of qualitative waveform analysis and quantitative blood flow variables of the central retinal vessels may have the potential to be developed as an ancillary study for supporting the diagnosis of brain death in children.

A case of frosted branch angiitis in an immunocompromised child.

Frosted branch angiitis is a rare vascular reaction believed to be a nonspecific immune response to an infective, neoplastic, or idiopathic insult. The clinical presentation is characteristic and typically affects children and younger adults, and the prognosis is good. We report a case of frosted branch angiitis during immune recovery in a 2-year-old boy with Langerhans cell histiocytosis on systemic immunosuppressive therapy.

Considering the Ectopic Pituitary Gland in Evaluation of the Nasopharyngeal Mass.

IMPORTANCE Extracranial pituitary ectopia is an uncommon finding characterized by all or a portion of the pituitary gland situated in an aberrant location. Often these lesions come to clinical attention only once they begin to function abnormally or increase in size significantly. OBSERVATIONS We describe an incidentally noted, asymptomatic pedunculated nasopharyngeal lesion in a 13-month-old girl that may be an extracranial pituitary gland. Consideration of this rare anomaly cautioned against performing a biopsy and may have prevented inadvertent removal of functional pituitary tissue. We describe the embryologic origins of ectopic pituitary tissue, discuss the differential diagnosis for nasopharyngeal lesions in children, and emphasize physical and radiologic findings suggestive of ectopic pituitary tissue to prevent potential inadvertent removal of this rare anomaly. CONCLUSIONS AND RELEVANCE We report this unusual case to review embryologic origins of ectopic pituitary tissue and to alert otolaryngologists of the need to consider ectopic pituitary tissue in the diagnosis of nasopharyngeal lesions in children.

Clinical Assessment of Noninvasive Intracranial Pressure Absolute Value Measurement MethodAuthor ResponseAuthor Response

Ragauskas et al.1 demonstrated that when external pressure is applied, the orbit tends to equilibrate flow in the ipsilateral ophthalmic artery (OA) when its level approaches intracranial pressure (ICP). The authors detected this relationship by making the OA into a “natural pair of scales, in which the intracranial segment of the OA is compressed by extracranial pressure (Pe) applied to the orbit.”

Absent Optic Chiasm Presenting With Horizontal Nystagmus

A female infant with horizontal nystagmus and normal ophthalmic examination had isolated absence of the optic chiasm on magnetic resonance imaging. Eye movements were recorded on video and reviewed. Horizontal nystagmus without see-saw nystagmus was observed. Visual evoked potential showed inter-hemispheric asymmetry compatible with the absence of crossing chiasmal fibers. Systemic abnormalities in this patient included cleft lip, preauricular skin tags, broad thumbs, and an anteriorly positioned anus, suggestive of Townes-Brock syndrome.