Non-Wilsonian hepatolenticular degeneration: Clinical and MRI observations in four families from south India

Nagappa, Madhu and Sinha, Sanjib and Saini, Jitender S and Kallolimath, Pradeep and Singh, Nivedita and Kumar, Arun and Bindu, Parayil S and Taly, Arun B (2016) Non-Wilsonian hepatolenticular degeneration: Clinical and MRI observations in four families from south India. In: JOURNAL OF CLINICAL NEUROSCIENCE, 27 . pp. 91-94.

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Abstract

Non-Wilsonian hepatolenticular degeneration (NWHD) is a heterogeneous neurological disorder occurring secondary to chronic acquired liver disease. Genetically determined familial NWHD is rare, poorly understood, and often mistaken for Wilson's disease (WD). We analysed clinical and MRI profiles of NWHD patients who did not have obvious cause for acquired liver disease, such as alcohol intake or hepatitis. Six patients from four families (four males, two females, mean age: 17.0 +/- standard deviation 7.9 years), presenting with chronic extrapyramidal disorder resembling WD and imaging (abdominal ultrasound/MRI) evidence of cirrhosis were studied. They lacked Kayser-Fleischer rings or biochemical and/or genetic evidence of WD. Clinical features included dystonia (n = 6), parkinsonism (n = 3), tremor (n = 1), cerebellar ataxia (n = 3), orofacial dyskinesia (n = 1), behavioural abnormalities (n = 3), and cognitive decline (n = 1). Brain MRI revealed T1-weighted hyperintensity in the pallidum (n = 6), crus cerebri (n = 4), putamen (n = 1), caudate (n = 1), thalamus (n = 1), and red nucleus (n = 1) with T2-weighted shortening in some of these regions. Additional findings included giant cisterna magna (n = 1), face of giant panda sign (n = 1) and thin corpus callosum (n = 1). Areas of ``blooming'' on susceptibility weighted images were noted in two patients in the caudate (n = 2) and putamen (n = 1). The finding of T1 shortening is distinct from that of WD where the majority of lesions are T1-hypointense and T2-hyperintense. Extrapallidal T1-hyperintensity is also an exceptional observation in NWHD. The MRI appearance of intense T1 shortening coupled with the lack of increased susceptibility changes suggests that the most likely mineral deposited is manganese. The association of this neurological disorder and cirrhosis of the liver in the absence of an acquired liver disease is a distinct disease entity. This syndrome may rep; resent a disorder of manganese metabolism resulting in its toxic deposition. (C) 2015 Elsevier Ltd. All rights reserved.

Item Type:	Journal Article
Publication:	JOURNAL OF CLINICAL NEUROSCIENCE
Publisher:	ELSEVIER SCI LTD
Additional Information:	Copy right for this article belongs to the ELSEVIER SCI LTD, THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
Keywords:	Liver dysfunction; Manganese; MRI; Non-Wilsonian hepatolenticular degeneration; Pallidal hyperintensity; Wilson's disease
Department/Centre:	Division of Biological Sciences > Molecular Reproduction, Development & Genetics
Date Deposited:	23 May 2016 07:26
Last Modified:	23 May 2016 07:26
URI:	http://eprints.iisc.ac.in/id/eprint/53860

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