Objective: The aim of our study is to describe epidemiological, clinical, and paraclinical characteristics of metals accumulation in brain in children.

Background: Movement disorders can develop as a consequence of genetic mutations that determine accumulation of manganese, iron or copper in the brain.

Method: We conducted a descriptive, retrospective study over 14 years, including patients followed up for copper and iron accumulation in brain in the department of Child and Adolescent Neurology in National Institute Mongi Ben Hmida of Neurology of Tunis.

Results: Fourty seven patients were followed up for metals accumulation in brain. Sex-ratio was 1.2. Mean age was 5.38 years old. Six patients were followed for genetically confirmed Pentothenate-kinase-associated neurodegeneration (PKAN). Main initial clinical feature was dystonia. MRI revealed the eye of the tiger sign in all cases. Optic atrophy was found on two patients. Thirty three patients were diagnosed infantile-neuroaxonal-dystrophy (INAD). The mean age of onset was 14 months. All patients had psychomotor regression, hypotonia, and spastic tetraparesis. MRI showed cerebellar atrophy in all cases. PLA2G6 mutations were found in 17 patients. Two siblings were followed for a genetically confirmed Mitochondrial-membrane-protein-associated neurodegeneration (MPAN).They presented with spastic paraparesis and cognitive impairments. MRI showed hypointense signal in the globi pallidi with a T2 hypointense signal in the sub thalamic nuclei in the girl’s case. Wilson’s disease was diagnosed on 8 patients. Movement disorders at time of presentation for symptomatic patients included tremor (6), dystonia (6), akinetic-rigid syndrome(6). Dysphagia was presented by one patient. One patient presented psychiatric signs and one had epilepsy. All the symptomatic patients had a Kayser-Fleischer ring on ophthalmologic examination and low serum ceruloplasmin. MRI T2 images of two patients showed the “face of giant panda” sign.

Conclusion: This study details the epidemiological, clinical and paraclinical features found in our Tunisian cohort. It illustrates the diversity of the modes of revelations of metals accumulations in brain in childhood.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/epidemiological-clinical-and-paraclinical-characteristics-of-metals-accumulation-in-brain-in-childhood/