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Treatment of Periodic Alternating Nystagmus as a Consequence of Ataxia-Telangiectasia

Jauregui, Ruben; Bhagat, Dhristie; Garcia, Mekka R; Miller, Claire; Grossman, Scott N
PMID: 36730924
ISSN: 1536-5166
CID: 5420452

Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference Proceedings

O'Neill, Kimberly A; Dugue, Andrew; Abreu, Nicolas J; Balcer, Laura J; Branche, Marc; Galetta, Steven; Graves, Jennifer; Kister, Ilya; Magro, Cynthia; Miller, Claire; Newsome, Scott D; Pappas, John; Rucker, Janet; Steigerwald, Connolly; William, Christopher M; Zamvil, Scott S; Grossman, Scott N; Krupp, Lauren B
A 16-year-old adolescent boy presented with recurrent episodes of weakness and numbness. Brain MRI demonstrated subcortical, juxtacortical, and periventricular white matter T2 hyperintensities with gadolinium enhancement. CSF was positive for oligoclonal bands that were not present in serum. Despite treatment with steroids, IV immunoglobulins, plasmapheresis, and rituximab, he continued to have episodes of weakness and numbness and new areas of T2 hyperintensity on imaging. Neuro-ophthalmologic examination revealed a subclinical optic neuropathy with predominant involvement of the papillomacular bundle. Genetic evaluation and brain biopsy led to an unexpected diagnosis.
PMID: 38181317
ISSN: 2332-7812
CID: 5628442

A Severe Case of Streptococcus pneumoniae Meningoencephalitis in an Infant Resulting in Fatal Strokes [Case Report]

Goodman, Michelle; Garcia, Mekka R; Wang, Heidy; Borja, Maria J; Miller, Claire; Segal, Devorah
PMID: 38766553
ISSN: 2329-048x
CID: 5654132

Progressive myoclonus without epilepsy due to a NUS1 frameshift insertion: Dyssynergia cerebellaris myoclonica revisited [Letter]

Monfrini, Edoardo; Miller, Claire; Frucht, Steven J; Di Fonzo, Alessio; Riboldi, Giulietta M
PMID: 35472621
ISSN: 1873-5126
CID: 5205592

A Case of Infant-Type Hemispheric Glioma with NTRK1 Fusion [Case Report]

Garcia, Mekka R; Bell, Lena; Miller, Claire; Segal, Devorah
The incidence of childhood central nervous system tumors in infants is about 6 per 100 000 children. Recent studies have showed recurrent fusion of the neurotrophic tyrosine receptor kinase (NTRK) gene in 10% of non-brainstem high grade glioma in very young children suggesting an oncogenic effect of the NTRK fusion genes. In this report, we present a rare, severe case of a full-term neonate who was noted to have widely splayed sutures and a bulging fontanelle at birth who was found to have infant-type hemispheric glioma with NTRK1 fusion with course complicated by seizures refractory to medical treatment. Patient was deemed a poor surgical candidate due to the size of the mass and thus parents opted for comfort care.
PMID: 36601394
ISSN: 2329-048x
CID: 5523962