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ISSN 2225-4676 (Electronic)

2020, Number 3

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Rev Cubana Neurol Neurocir 2020; 10 (3)

Neuropsychological, neurophysiological and imaging findings in two cases with Cri du chat syndrome

Zaldívar BM, Morales CLM, González GJ, Maragoto RC, Báez MMM, Hernández DZM

Language: Spanish
References: 17
Page: 1-14
PDF size: 212.62 Kb.


ABSTRACT

Objective: To describe the neuropsychological, neurophysiological and imaging findings of two cases with cri‐du‐chat syndrome.
Clinical case reports: We report two clinical cases of female patients with cri‐du‐chat syndrome (3.9 years and 4.0 years of age, respectively), treated at the International Center for Neurological Restoration. A multidisciplinary evaluation was carried out, using the Brunet-Lezine scale, the digital electroencephalogram, the sensory evoked potentials and the nuclear magnetic resonance. Profound neurodevelopmental alterations were found in case 1 and severe in case 2; additionally, case 1 showed active multifocal epileptiform activity in the electroencephalogram. Hypoxic ischemic lesions and alteration in the organization of the cortex were identified in case 1 in neuroimaging. In the sensory evoked potentials, compromise of the dorsal-lemniscal auditory and somesthetic pathway was observed in both cases.
Conclusions: In the cases with Cri du chat syndrome, specific findings are observed in the neuropsychological and imaging. These aspects contribute to improving multidisciplinary care in this syndrome, as well as the planning of specific treatments that could optimize the quality of life of these children and, consequently, of their main support network, their family.


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