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2020, Number 2

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Rev Cubana Neurol Neurocir 2020; 10 (2)

Neurodegeneration due to early-onset brain iron accumulation in two sisters

González VD, Aguilera POR, Gómez ÁF

Language: Spanish
References: 20
Page: 1-11
PDF size: 221.32 Kb.


ABSTRACT

Objective: To describe the clinical and imaging characteristics of neurodegeneration due to early onset brain iron accumulation in two sisters.
Clinical cases: We report the case of two patients (female siblings), 8 and 3 years old, respectively. The oldest child had onset of manifestations in infancy, with neurodevelopmental involvement; she was diagnosed, at that time, with infantile cerebral palsy. Subsequently, neuropsychiatric alterations, deterioration of motor, language, cognitive functions and severe dystonic spasms appeared. After an apparent normal psychomotor development, the second child began to show language disorders and ataxia, with rigidity of progressive evolution. The older sister's previous diagnosis of neurodegeneration due to brain accumulation of iron, in its early form, and the tiger's eye images on magnetic resonance imaging in both patients, facilitated the younger sister's diagnosis.
Conclusions: The appearance of clinical manifestations of dysfunction of the nervous system of different topography, with slow and progressive evolution in early ages, and the finding of tiger's eye images on magnetic resonance, allowed the diagnosis of accumulation neurodegeneration iron brain in both cases. The family history facilitated the diagnosis of the younger child.


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