Our findings expand the mutational and clinical spectra of this recently recognized disorder. An early diagnosis is warranted, because treatment with manganese-chelating agents, iron supplementation, or their combination might improve symptoms and prevent progression of this otherwise potentially fatal disease. © 2015 International Parkinson and Movement Disorder Society.

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Intramedullary tuberculomas are rare (Arseni & Samitca, 1960; Dastur, 1972; Compton & Dorsch, 1984) but have been demonstrated either at surgery or at autopsy. The appearance of tuberculomas in the brain on magnetic resonance imaging (MRI) has been reported (Gupta et al, 1988). However, the image morphology of intrinsic cord tuberculomas has not been described. We present the MR findings in two patients with tuberculomas of the cervical cord diagnosed on the basis of positive therapeutic response to antituberculous therapy (ATT). Two young patients with clinical and radiological evidence of intramedullary pathology, who were referred for MRI study with possibility of tuberculous myelitis, are described. Magnetic resonance imaging of the cervicodorsal spine was performed with a 1.5 T (MAGNETOM, Siemens) system using spin echo sequences (repetition time (TR), 2000 ms and echo time (TE), 69–90 ms for T2 images; TR, 700–800 ms and TE, 17–22 ms for T1 images) in axial and sagittal planes. Images were acquired on 256 × 256 matrix and 1.2 gradient zooming with 5 mm contiguous slices. Follow-up studies in both cases were taken after 4 months and after 1 year in Case 2. from C2 to C5/C6 (Figs la & b). The extradural space and vertebral bodies were found to be normal. The lesion appeared to be hypointense in its periphery with central hyperintensity on T2-weighted images and low to isointense on T1 images. The patient showed remarkable relief of her symptoms over a period of 4 months with ATT.

Background Hypermanganesemia with dystonia 1 and 2 (HMNDYT1 and 2) are rare, inherited disorders of manganese transport. Objectives We aimed to describe clinical, laboratory features, and outcomes among children with HMNDYT. Methods We conducted a retrospective multicenter study involving tertiary centers across India. We enrolled children between 1 month to 18 years of age with genetically confirmed/clinically probable HMNDYT. Clinical, laboratory profile, genetic testing, treatment details, and outcomes scored by treating physicians on a Likert scale were recorded. Results We enrolled 27 children (19 girls). Fourteen harbored SLC30A10 mutations; nine had SLC39A14 mutations. The SLC39A14 cohort had lower median age at onset (1.3 [interquartile range (IQR), 0.7–5.5] years) versus SLC30A10 cohort (2.0 [IQR, 1.5–5.1] years). The most frequent neurological features were dystonia (100%; n = 27), gait abnormality (77.7%; n = 21), falls (66.7%; n = 18), and parkinsonism (59.3%; n = 16). Median serum manganese (Mn) levels among SLC39A14 (44.9 [IQR, 27.3–147.7] mcg/L) cohort were higher than SLC30A10 (29.4 [17.1–42.0] mcg/L); median hemoglobin was higher in SLC30A10 (16.3 [IQR, 15.2–17.5] g/dL) versus SLC39A14 cohort (12.5 [8.8–13.2] g/dL). Hepatic involvement and polycythaemia were observed exclusively in SLC30A10 variants. A total of 26/27 children underwent chelation with disodium calcium edetate. Nine demonstrated some improvement, three stabilized, two had marked improvement, and one had normalization. Children with SLC39A14 mutations had poorer response. Two children died and nine were lost to follow‐up. Conclusions We found female predominance. Children with SLC39A14 mutations presented at younger age and responded less favorably to chelation compared to SLC30A10 mutations. There is emerging need to better define management strategies, especially in low resource settings.

Progressive multifocal leukoencephalopathy (PML) is demyelinating of central nervous system caused by JC virus infection and often occurs in immunodeficient individuals. We report progressive PML in a 30-year-old male with idiopathic severely depressed CD4+T lymphocyte count. He was sero-negative for human immunodeficiency virus (HIV) infection.