415: Neurological features of Wilson’s disease precipitated by liver tranplantation

Wilson disease (WD) is a relatively rare autosomal recessive disorder caused by the mutation of ATP7B gene, resulting in impaired transportation of copper in the body which is then deposited in various organs such as liver, brain and kidney. Catatonia at first presentation in WD has rarely been reported. Here we report a case of a 14 year old boy who presented with catatonia among other neuropsychiatric features and who was later diagnosed with Wilson's disease. He responded well to treatment with Copper chelators, olanzapine and lorazepam. Though uncommon, a diagnosis of Wilson's disease should be considered in the evaluation of adolescents and young adults presenting with psychiatric manifestations &/or neurological features.

Download Full-text

Laterotrusion (Side to Side) and Protrusion/Retraction Difficulty of Tongue in Two Children with Wilson's Disease

Journal of Pediatric Neurology ◽

10.1055/s-0041-1740365 ◽

2021 ◽

Author(s):

Roshan Koul ◽

Arjun Maria ◽

Seema Alam

Keyword(s):

Wilson’S Disease ◽

Neuromuscular Diseases ◽

Wilson's Disease ◽

Second Child ◽

First Child ◽

Tongue Movements ◽

Neurological Features ◽

Extrapyramidal Features ◽

Treatable Condition ◽

Rule Out

AbstractInvolvement of tongue is uncommon in Wilson's disease (WD) in early stages. This is usually seen late when the patient has an established neurological WD associated with dyskinesia, dystonia, and tremors. In this article, we presented two children with tongue involvement in which there were slow laterotrusion (side to side) and protrusion and retraction movements. In the first child this was the early and only manifestation without any other neurological features while in the second child this was seen in a previously diagnosed WD. Slow tongue movements in any child with or without extrapyramidal features should be investigated to rule out a treatable condition like WD. Tongue involvement is common in children with different neurological/neuromuscular diseases, drugs, and other unknown conditions.

Download Full-text

Generalized hyperpigmentation in Wilson’s disease: An unusual association

Journal of Neurosciences in Rural Practice ◽

10.4103/0976-3147.105621 ◽

2013 ◽

Vol 04 (01) ◽

pp. 70-72 ◽

Cited By ~ 3

Author(s):

Madhumita Nandi ◽

Sumantra Sarkar ◽

Rakesh Mondal

Keyword(s):

Autosomal Recessive ◽

Wilson’S Disease ◽

Copper Metabolism ◽

Autosomal Recessive Disorder ◽

Wilson's Disease ◽

Unusual Association ◽

Diagnostic Difficulties ◽

The Central Nervous System ◽

Neurological Features ◽

Atypical Presentations

ABSTRACTWilson’s disease, an autosomal recessive disorder of copper metabolism, most commonly presents either with hepatic or neurological features. But, it may sometimes have certain atypical presentations posing diagnostic difficulties. We report here a case of Wilson’s disease presenting with generalized hyperpigmentation of skin who also developed neurological manifestations subsequently. We aim to highlight the importance of keeping Wilson’s disease as one of the differentials in patients who present with hyperpigmentation and neurological symptoms compatible with copper deposits in the central nervous system and proceed for investigations accordingly.

Download Full-text