Moebius Syndrome (Video)

Moebius syndrome is a congenital malformation of the brainstem that is non-progressive typically causing bilateral facial diplegia and horizontal eye movement restriction. The syndrome has variable phenotypes and severity and can be found with other cranial neuropathies such as cranial nerves V, IX, X, and XII. The incidence is 1 in 50,000 live births with no gender predilection. The most common eye movement abnormality is a bilateral horizontal gaze palsy although there can be unilateral gaze palsies or sixth nerve palsies, vertical eye movement limitations, and convergence deficits.GVScongenitalsyndromesinvolvingtheextraocularmuscle

Moebius Syndrome

Moebius syndrome is a congenital malformation of the brainstem that is non-progressive typically causing bilateral facial diplegia and horizontal eye movement restriction. The syndrome has variable phenotypes and severity and can be found with other cranial neuropathies such as cranial nerves V, IX, X, and XII. The incidence is 1 in 50,000 live births with no gender predilection. The most common eye movement abnormality is a bilateral horizontal gaze palsy although there can be unilateral gaze palsies or sixth nerve palsies, vertical eye movement limitations, and convergence deficits.GVScongenitalsyndromesinvolvingtheextraocularmuscle

Moebius Syndrome (Slides)

Moebius syndrome is a congenital malformation of the brainstem that is non-progressive typically causing bilateral facial diplegia and horizontal eye movement restriction. The syndrome has variable phenotypes and severity and can be found with other cranial neuropathies such as cranial nerves V, IX, X, and XII. The incidence is 1 in 50,000 live births with no gender predilection. The most common eye movement abnormality is a bilateral horizontal gaze palsy although there can be unilateral gaze palsies or sixth nerve palsies, vertical eye movement limitations, and convergence deficits

Evaluation of Child with Full Optic Disc - Role of Imaging; in Distinguishing Pseudopapilledema versus Real; Papilledema (OCT is Not Useful)

Optic pathway gliomas (OPGs) are low-grade neoplasms localized along the pre-cortical visual pathway. Approximately 20% of all children with neurofibromatosis type 1 (NF1) will have an OPG. Of those children diagnosed with OPGs, about 30% have NF1; although this estimate ranges from 10-75% depending on the series.(1-5) In children with NF1, these tumors are intrinsic to the anterior visual pathway axons. When OPGs are sporadic (i.e., not secondary to NF1), they are intrinsic to the axons of the optic nerve, but can be intrinsic or extrinsic to the optic chiasm or optic tract.(6) OPGs occur preferentially during the first decade of life (typically 1-8 years old) , especially in children with NF1

Evaluation for Optic Pathway Glioma (OCT Should Guide Clinical Decision Making & OCT Does Not Guide Clinical Decision Making)

Optic pathway gliomas (OPGs) are low-grade neoplasms localized along the pre-cortical visual pathway. Approximately 20% of all children with neurofibromatosis type 1 (NF1) will have an OPG. Of those children diagnosed with OPGs, about 30% have NF1; although this estimate ranges from 10-75% depending on the series.(1-5) In children with NF1, these tumors are intrinsic to the anterior visual pathway axons. When OPGs are sporadic (i.e., not secondary to NF1), they are intrinsic to the axons of the optic nerve, but can be intrinsic or extrinsic to the optic chiasm or optic tract.(6) OPGs occur preferentially during the first decade of life (typically 1-8 years old) , especially in children with NF1

Looking for a Drop of Porcelain - Video

A 4 year old healthy boy presented with severe headache. A right subdural hygroma was seen on brain MRI and CSF evaluation showed a leukocytosis with elevated protein. A week later he developed left leg weakness and a repeat brain MRI showed progressive leptomeningeal enhancement and new punctate infarcts with spine imaging revealing diffuse thickening and enhancement along the thecal sac. CNS vasculitis was suspected and he was started on steroids. A brain biopsy showed a subdural hemorrhage with pathology showing intraluminal fibrin thrombi, fibrinoid necrosis of some vessels and perivascular hemorrhage suspicious for CNS vasculitis, however, a thrombotic etiology was favored on second opinion. Despite steroids, rituximab, cyclophosphamide, infliximab, and IVIG he continued to have recurrent radiologic strokes with progressive weakness in his left leg, new weakness in his left arm, and a new left homonymous hemianopsia. After two months, he was transferred to a large referral center and on transfer his exam showed a 25 lb weight gain from baseline, weakness in the left leg and arm, a left homonymous hemianopsia, and normal mental status. Two months after his initial presentation, he developed right eyelid ptosis, right eye mydriasis and double vision. On exam he had normal near visual acuity, a left homonymous hemianopsia, abduction, supraduction and infraduction defects in his right eye with a fixed and dilated right pupil. His dilated fundus exam was normal with no evidence of vasculitis or papilledema. He was diagnosed with an ischemic complete 3rd nerve palsy, either peripheral or central (radiologically occult). Two weeks later, he had onset of hematuria, urinary retention, and abdominal pain; thought to be a cyclophosphamide side effect. Additional ineffective treatments included aspirin and nataluzimab and at 3 months from presentation, two raised circular lesions on his left lower abdomen and right foot developed

Looking for a Drop of Porcelain - Abstract

A 4 year old healthy boy presented with severe headache. A right subdural hygroma was seen on brain MRI and CSF evaluation showed a leukocytosis with elevated protein. A week later he developed left leg weakness and a repeat brain MRI showed progressive leptomeningeal enhancement and new punctate infarcts with spine imaging revealing diffuse thickening and enhancement along the thecal sac. CNS vasculitis was suspected and he was started on steroids. A brain biopsy showed a subdural hemorrhage with pathology showing intraluminal fibrin thrombi, fibrinoid necrosis of some vessels and perivascular hemorrhage suspicious for CNS vasculitis, however, a thrombotic etiology was favored on second opinion. Despite steroids, rituximab, cyclophosphamide, infliximab, and IVIG he continued to have recurrent radiologic strokes with progressive weakness in his left leg, new weakness in his left arm, and a new left homonymous hemianopsia. After two months, he was transferred to a large referral center and on transfer his exam showed a 25 lb weight gain from baseline, weakness in the left leg and arm, a left homonymous hemianopsia, and normal mental status. Two months after his initial presentation, he developed right eyelid ptosis, right eye mydriasis and double vision. On exam he had normal near visual acuity, a left homonymous hemianopsia, abduction, supraduction and infraduction defects in his right eye with a fixed and dilated right pupil. His dilated fundus exam was normal with no evidence of vasculitis or papilledema. He was diagnosed with an ischemic complete 3rd nerve palsy, either peripheral or central (radiologically occult). Two weeks later, he had onset of hematuria, urinary retention, and abdominal pain; thought to be a cyclophosphamide side effect. Additional ineffective treatments included aspirin and nataluzimab and at 3 months from presentation, two raised circular lesions on his left lower abdomen and right foot developed

Looking for a Drop of Porcelain - Path PPT

A 4 year old healthy boy presented with severe headache. A right subdural hygroma was seen on brain MRI and CSF evaluation showed a leukocytosis with elevated protein. A week later he developed left leg weakness and a repeat brain MRI showed progressive leptomeningeal enhancement and new punctate infarcts with spine imaging revealing diffuse thickening and enhancement along the thecal sac. CNS vasculitis was suspected and he was started on steroids. A brain biopsy showed a subdural hemorrhage with pathology showing intraluminal fibrin thrombi, fibrinoid necrosis of some vessels and perivascular hemorrhage suspicious for CNS vasculitis, however, a thrombotic etiology was favored on second opinion. Despite steroids, rituximab, cyclophosphamide, infliximab, and IVIG he continued to have recurrent radiologic strokes with progressive weakness in his left leg, new weakness in his left arm, and a new left homonymous hemianopsia. After two months, he was transferred to a large referral center and on transfer his exam showed a 25 lb weight gain from baseline, weakness in the left leg and arm, a left homonymous hemianopsia, and normal mental status. Two months after his initial presentation, he developed right eyelid ptosis, right eye mydriasis and double vision. On exam he had normal near visual acuity, a left homonymous hemianopsia, abduction, supraduction and infraduction defects in his right eye with a fixed and dilated right pupil. His dilated fundus exam was normal with no evidence of vasculitis or papilledema. He was diagnosed with an ischemic complete 3rd nerve palsy, either peripheral or central (radiologically occult). Two weeks later, he had onset of hematuria, urinary retention, and abdominal pain; thought to be a cyclophosphamide side effect. Additional ineffective treatments included aspirin and nataluzimab and at 3 months from presentation, two raised circular lesions on his left lower abdomen and right foot developed

Looking for a Drop of Porcelain - Presentation PPT

A 4 year old healthy boy presented with severe headache. A right subdural hygroma was seen on brain MRI and CSF evaluation showed a leukocytosis with elevated protein. A week later he developed left leg weakness and a repeat brain MRI showed progressive leptomeningeal enhancement and new punctate infarcts with spine imaging revealing diffuse thickening and enhancement along the thecal sac. CNS vasculitis was suspected and he was started on steroids. A brain biopsy showed a subdural hemorrhage with pathology showing intraluminal fibrin thrombi, fibrinoid necrosis of some vessels and perivascular hemorrhage suspicious for CNS vasculitis, however, a thrombotic etiology was favored on second opinion. Despite steroids, rituximab, cyclophosphamide, infliximab, and IVIG he continued to have recurrent radiologic strokes with progressive weakness in his left leg, new weakness in his left arm, and a new left homonymous hemianopsia. After two months, he was transferred to a large referral center and on transfer his exam showed a 25 lb weight gain from baseline, weakness in the left leg and arm, a left homonymous hemianopsia, and normal mental status. Two months after his initial presentation, he developed right eyelid ptosis, right eye mydriasis and double vision. On exam he had normal near visual acuity, a left homonymous hemianopsia, abduction, supraduction and infraduction defects in his right eye with a fixed and dilated right pupil. His dilated fundus exam was normal with no evidence of vasculitis or papilledema. He was diagnosed with an ischemic complete 3rd nerve palsy, either peripheral or central (radiologically occult). Two weeks later, he had onset of hematuria, urinary retention, and abdominal pain; thought to be a cyclophosphamide side effect. Additional ineffective treatments included aspirin and nataluzimab and at 3 months from presentation, two raised circular lesions on his left lower abdomen and right foot developed

Artificial Intelligence to Differentiate Pediatric Pseudopapilledema and True Papilledema on Fundus Photographs

Purpose: To develop and test an artificial intelligence (AI) model to aid in differentiating pediatric pseudopapilledema from true papilledema on fundus photographs. Design: Multicenter retrospective study. Subjects: A total of 851 fundus photographs from 235 children (age 90% sensitivity at detecting papilledema, superior to human experts. Due to the high sensitivity and low false negative rate, AI may be useful to triage children with suspected papilledema requiring work-up to evaluate for serious underlying neurologic conditions. Financial Disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article