Teaching NeuroImage: Neuroimaging Features of Wilson Disease.

A 13-year-old boy of nonconsanguineous parents presented with abnormal body movements, gait difficulty, and slurring of speech for 2 years. On examination, he had rigidity, dystonia, dysarthria, and drooling. Ophthalmologic examination revealed bilateral Kayser-Fleischer rings. He had elevated serum "free" copper levels (41.2 µg/dL [range:10-15]), 24-hour urine copper levels (895.7 µg/d [range:<60]), and reduced serum ceruloplasmin levels (4.3 mg/dL (range:20-40]). MRI revealed "face of giant panda" appearance (Figure A), T2-fluid attenuated inversion recovery hyperintensities (Figure, B and C), and frontal cystic encephalomalacic changes (Figure D), suggestive of Wilson disease (WD). Face of giant panda in WD, first described by Hitoshi et al.,1 is due to high signal intensity in tegmentum with normal signals in red nuclei forming the eyes, normal signals of pars reticulata (lateral portion) of substantia nigra forming the ears, and hypointensity of superior colliculus forming the chin.2 Bilateral cystic changes are less commonly reported in WD.3 Recognizing diverse neuroimaging signatures beyond well-known findings in WD enhances diagnostic accuracy.

Primary Diffuse Leptomeningeal Melanomatosis in an Indian Child With Review of Literature.

BACKGROUND: Primary diffuse leptomeningeal melanomatosis (PDLM) is an extremely rare, aggressive malignant neoplasia of the central nervous system. We report the first case of pediatric PDLM from India. METHODS: A review of literature was done to describe the 15 pediatric cases reported so far. RESULTS: A 12-year-old male child presented with fever, vomiting, and headache for 2 months. Cerebrospinal fluid examination was normal. An MRI of the brain revealed hydrocephalus, for which antitubercular therapy was started and external ventricular drainage followed by ventriculoperitoneal shunt was done. Repeat MRI revealed a suprasellar lesion, nodular enhancement of cranial nerves along with dural enhancement of spinal cord with arachnoiditis, and long-segment myelomalacia. Repeat cerebrospinal fluid examination was negative for malignant cells. During biopsy, blackish dura with diffuse blackish deposits in ventricle were noted. Histopathological examination revealed tumor cells with intracytoplasmic coarse brown pigment melanoma, frequent mitotic figures, and immunohistochemistry testing was positive for human melanoma black-45 and MelanA, suggestive of PDLM. He expired 4 months after the diagnosis. CONCLUSION: Diagnosing PDLM can be daunting in light of its slow but malignant progression mimicking TBM leading to improper management. However, the absence of any supportive microbiological evidence and failure to respond to the standard antitubercular therapy with subsequent progression of the symptoms should prompt the need for finding an alternative diagnosis. A targeted molecular diagnosis and precision medicine may provide a favorable outcome in children with PDLM.

Clinical Profile, Follow-up, and Role of Neuroimaging in Pediatric Guillain-Barré Syndrome in the COVID Era: An Ambispective Study.

Background: To define the varied presentations of Guillain-Barré syndrome in children in the COVID era and 6 months' follow-up outcome. Methods: Ambispective study of 15 months' duration involving children with Guillain-Barré syndrome aged 1 month to 18 years at a tertiary care pediatric hospital. They were categorized into groups A and B based on COVID-19 serology testing. Hughes Disability Scale was used for disability assessment. Modified Rankin scale was used for improvement assessment in follow-up. Results: Of 19 children with Guillain-Barré syndrome, 9 (47%) were females and 10 (53%) were males. Groups A and B had children with negative (8) and positive serology (11), respectively. The most common presentation in both groups was motor weakness. Post-COVID pediatric Guillain-Barré syndrome presented with variants of Guillain-Barré syndrome rather than the classical form (P = .03). In group B, patients with elevated inflammatory markers had poor response to intravenous immunoglobulin, and 5 of 11 patients had good response to pulse steroids, probably depicting an inflammation-predominant pathology. Conclusion: Post-COVID Guillain-Barré syndrome in children presented with Guillain-Barré syndrome variants rather than the classic form. Neuroimaging is of great value in both confirming Guillain-Barré syndrome diagnosis and excluding differentials. Patients with elevated inflammatory markers and residual weakness may be given a pulse steroid trial.

Paroxysmal Neuropathic Pruritus in Patients With Chiari Malformation Type I: A Rare Phenotype.

Chiari malformation type I (CM-I) is a group of deformities in the posterior fossa and hindbrain, including the pons, cerebellum, and medulla oblongata. Paroxysmal pruritus in CM-I has been reported only once before in the literature. This study was a cross-sectional study over 12 months at a tertiary care pediatric hospital involving children aged one to 18 years with CM-I presenting with paroxysmal itching. Three patients with CM-I presented with severe episodes of paroxysmal itching. Patient 3 was started on carbamazepine therapy for seizures, and incidentally, his itching subsided. The pruritus of neuropathic etiology has been reported to be associated with syringomyelia, spongiform encephalopathies, autoimmune disorders like multiple sclerosis, patients with end-stage renal failure on dialysis, and neoplasms. Antihistamines and antiallergics are ineffective in treating these patients, reiterating a central mechanism for pruritus. At present, no drugs have been approved for the treatment of neuropathic pruritus specifically. The commonly used treatments for neuropathic itch are antiseizure medications, tricyclic antidepressants, gabapentinoids, ketamine, and oral kappa opioids, including butorphanol and difelikefalin. Better structured prospective studies are needed to analyze the prevalence and scales to assess disability caused due to neuropathic itch in CM and may enhance understanding in this area.