Penicillamine for Hypermanganesemia With Dystonia, Polycythemia, and Cirrhosis in 2 Sisters

Dutta, Aparna; Majumdar, Rakhi; Dubey, Souvik; Pandit, Alak

doi:10.1212/wnl.0000000000011296

Cited by 1 publication

(4 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Post‐chelation scans demonstrated dramatic improvement in the extent of T1 shortening, with residual changes mostly in the globus pallidus, internal capsule, and/or subthalamic nucleus. This is in line with the few case reports where repeat imaging has been described 8,26,27 . Hence, MRI scans can be used to monitor treatment response.…”

Section: Discussionsupporting

confidence: 82%

“…Previously, the use of oral 2,3-dimercaptosuccininc acid as well as d-penicillamine has been trialed in some patients with varying benefits. 7,8,26,27,29 D-penicillamine as an add-on agent in two of our patients yielded appreciable results. D-penicillamine may serve as a more feasible agent in our settings, because it is orally administered, widely available, and inexpensive.…”

Section: Discussionmentioning

confidence: 55%

“…Previously, the use of oral 2,3‐dimercaptosuccininc acid as well as d‐penicillamine has been trialed in some patients with varying benefits 7,8,26,27,29 . D‐penicillamine as an add‐on agent in two of our patients yielded appreciable results.…”

Section: Discussionmentioning

confidence: 73%

“…This is in line with the few case reports where repeat imaging has been described. 8,26,27 Hence, MRI scans can be used to monitor treatment response. However, limitations of cost and need for sedation in young children need consideration.…”

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children

Garg

Yoganathan

Shamim

et al. 2022

Movement Disord Clin Pract

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionsupporting

confidence: 82%