Cold Fever - Video

A 34-year old rock-climbing-mountain man woke with bilateral painless blurry vision along with alternating conjunctival erythema and eyelid edema. A headache began without associated migrainous features. Prior history revealed an untreated mysterious ‘new form of TB' followed by the CDC at age 2 during a work-up for a large lymph node. He had an aunt with Hodgkin's lymphoma and no recent insect bites despite hiking internationally. His visual acuity was 20/70 OD, 20/50 OS and there was enlargement of both; blind spots. There was conjunctival injection and no cells in the anterior chamber or vitreous. He had significant disc elevation OU; with cotton wool spots, no hemorrhage, and bland appearing. A brain MRI was normal. He had elevated inflammatory markers (ESR 104) and leukocytosis (WBC 23). Lumbar puncture had normal opening pressure and showed an aseptic meningitis CSF WBC (456), protein (229). Extensive infectious and carcinomatous CSF work-up was negative and empiric treatment with antifungals and antibiotics were trialed until cultures returned negative. CSF metagenomics sequencing matched Borrelia hermisii, however; confirmatory testing was negative. That month, a pruritic head-sparing maculopapular rash appeared and he developed fleeting fevers triggered by cold, tinnitus, progressive severe sensorineural hearing loss, enlarged lymph nodes, and precipitous weight loss >35 lbs. During the hunt for cancer a PET/CT showed diffuse marrow activity and multiple lymph nodes with increased metabolic activity. Lymph node and bone marrow biopsies were negative. Skin biopsies of two different rashes came back as pityriasis rosea and psoriasis. Five months from presentation, his optic disc and vision remained stable and he was without a diagnosis. Repeat; MRI brain was performed showing new plaque-like dural enhancement and lacrimal enhancement. Lacrimal biopsy was negative. A; repeat bone marrow biopsy initially suggested a plasma cell neoplasm, but cytogenetics was negative. A genetic test was performed.en

Cold Fever - Abstract

A 34-year old rock-climbing-mountain man woke with bilateral painless blurry vision along with alternating conjunctival erythema and eyelid edema. A headache began without associated migrainous features. Prior history revealed an untreated mysterious ‘new form of TB' followed by the CDC at age 2 during a work-up for a large lymph node. He had an aunt with Hodgkin's lymphoma and no recent insect bites despite hiking internationally. His visual acuity was 20/70 OD, 20/50 OS and there was enlargement of both; blind spots. There was conjunctival injection and no cells in the anterior chamber or vitreous. He had significant disc elevation OU; with cotton wool spots, no hemorrhage, and bland appearing. A brain MRI was normal. He had elevated inflammatory markers (ESR 104) and leukocytosis (WBC 23). Lumbar puncture had normal opening pressure and showed an aseptic meningitis CSF WBC (456), protein (229). Extensive infectious and carcinomatous CSF work-up was negative and empiric treatment with antifungals and antibiotics were trialed until cultures returned negative. CSF metagenomics sequencing matched Borrelia hermisii, however; confirmatory testing was negative. That month, a pruritic head-sparing maculopapular rash appeared and he developed fleeting fevers triggered by cold, tinnitus, progressive severe sensorineural hearing loss, enlarged lymph nodes, and precipitous weight loss >35 lbs. During the hunt for cancer a PET/CT showed diffuse marrow activity and multiple lymph nodes with increased metabolic activity. Lymph node and bone marrow biopsies were negative. Skin biopsies of two different rashes came back as pityriasis rosea and psoriasis. Five months from presentation, his optic disc and vision remained stable and he was without a diagnosis. Repeat; MRI brain was performed showing new plaque-like dural enhancement and lacrimal enhancement. Lacrimal biopsy was negative. A; repeat bone marrow biopsy initially suggested a plasma cell neoplasm, but cytogenetics was negative. A genetic test was performed.en

Cold Fever - Slides

A 34-year old rock-climbing-mountain man woke with bilateral painless blurry vision along with alternating conjunctival erythema and eyelid edema. A headache began without associated migrainous features. Prior history revealed an untreated mysterious ‘new form of TB' followed by the CDC at age 2 during a work-up for a large lymph node. He had an aunt with Hodgkin's lymphoma and no recent insect bites despite hiking internationally. His visual acuity was 20/70 OD, 20/50 OS and there was enlargement of both; blind spots. There was conjunctival injection and no cells in the anterior chamber or vitreous. He had significant disc elevation OU; with cotton wool spots, no hemorrhage, and bland appearing. A brain MRI was normal. He had elevated inflammatory markers (ESR 104) and leukocytosis (WBC 23). Lumbar puncture had normal opening pressure and showed an aseptic meningitis CSF WBC (456), protein (229). Extensive infectious and carcinomatous CSF work-up was negative and empiric treatment with antifungals and antibiotics were trialed until cultures returned negative. CSF metagenomics sequencing matched Borrelia hermisii, however; confirmatory testing was negative. That month, a pruritic head-sparing maculopapular rash appeared and he developed fleeting fevers triggered by cold, tinnitus, progressive severe sensorineural hearing loss, enlarged lymph nodes, and precipitous weight loss >35 lbs. During the hunt for cancer a PET/CT showed diffuse marrow activity and multiple lymph nodes with increased metabolic activity. Lymph node and bone marrow biopsies were negative. Skin biopsies of two different rashes came back as pityriasis rosea and psoriasis. Five months from presentation, his optic disc and vision remained stable and he was without a diagnosis. Repeat; MRI brain was performed showing new plaque-like dural enhancement and lacrimal enhancement. Lacrimal biopsy was negative. A; repeat bone marrow biopsy initially suggested a plasma cell neoplasm, but cytogenetics was negative. A genetic test was performed

Safety and effect of rituximab treatment in pediatric demyelinating disease

Rituximab is a B-cell therapy that reduces relapse rate in adult demyelinating diseases, but there is limited knowledge of clinical treatment experience in pediatric neuromyelitis optica (NMO) and multiple sclerosis (MS). Demyelinating diseases in children can have high morbidity, especially in children with NMO with optic neuritis causing rapid progression to blindness and incomplete or no recovery from steroids, plasmapheresis and intravenous immunoglobulin therapy. Our study investigates the safety and effect of rituximab in children with NMO and MS

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 (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

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

Idiopathic Cranial Nerve Six Palsies in Pediatric Patients

Idiopathic cranial nerve 6 (CN6) palsy in pediatric patients is a well-recognized yet rare phenomenon. (1) Etiology includes tumor, elevated ICP, trauma, congenital, inflammatory, and idiopathic. (1,2) In the absence of any other findings upon workup, children can be diagnosed as idiopathic CN6 palsy, typically resolving a few months after onset. (3) The literature is quite mixed as to the description, expected workup, and rate of spontaneous vs. incomplete recovery for these patients

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