Lissencephaly: presentation of a clinical case of LIS 1 with a diagnosis confirmed by MLPA method and indications for rehabilitation treatment in childhood

ABSTRACT

Lissencephaly is a very rare clinical condition that affects the formation of the brain and causes severe psychomotor retardation, convulsions and muscular spasticity or hypotonia, often also associated with respiratory problems, facial dysmorphisms, abnormalities of the fingers and toes and difficulty swallowing resulting in reduced life expectancy. The clinical case described in the following article demonstrates the diagnostic process and rehabilitation treatment of a patient through a narrative review of the scientific literature and the presentation of this condition in order to provide indications to guide rehabilitation treatment in childhood.

KEYWORDS:

• Lissencephaly
• psychomotor retardation
• rehabilitation treatment
• diagnosis
• case report

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No potential conflict of interest was reported by the author(s).

Notes

1 Polymicrogyria (PMG) comprises a heterogeneous group of malformations of the cerebral cortex. It is characterized by an increased plication of the cortex and abnormalities of cortical layering, which, depending on the topographical distribution, manifests itself with neurological symptoms of varying severity, such as epilepsy, developmental delay, intellectual disability, motor dysfunction (spasticity) and pseudobulbar palsy. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=IT&Expert=35981

2 Magnetic resonance imaging report of July 2021.

3 Genetic test report.

4 The Wechsler scales, which are used to assess IQ, start at the chronological age of 4 years and are available in the Wechsler Preschool and Primary Scale of Intelligence (WPPSI). At present, there are no other standardized rating scales in the scientific literature for testing the intelligence of children younger than that age.

5 Piaget calls this need “primary circular reaction,” because the actions are all centered on the infant’s body. The primary circular reaction leads to the formation of new patterns: the first habits (Camaioni & DiBlasio, 2007).

6 We speak, in this case, of secondary circular reactions that are conducted very far from reflexes, but not yet “intelligent” because the novelty is discovered by chance.

7 Physiatric reevaluation report.

8 Child neuropsychiatric videat.

9 Instead of the 2–3 mm of normal cortex.

10 Age group 0–18 years.

11 Comparison of typical and atypical development.

12 Introduction of facilitators, who make it possible to observe emerging skills.

13 Postural care promotes the stability of the motor system and the organization of functional motor skills, the regulation of behavioral states and the maturation of interactive skills. The various postures increase the functionality of the various systems: cardio-circulatory, alimentary, digestive, osteo-articular, respiratory and neuromotor.

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Funding

The author(s) reported there is no funding associated with the work featured in this article.