CLINICAL RECOGNITION OF RETT SYNDROME
Date Issued
2022
Author(s)
Lejla Muaremoska Kanzoska
Learta Adili Ademi
Helga Pavlovska
Simona Antonievska
Elena Krsteska
Nazif Imeri
Zorica Petkovska
Ana Nedelkoska
Abstract
Rett syndrome is a rare genetic disorder that affects the
development of brain, which results in severe mental
and physical impairment. It is estimated that it affects
one of 10,000 females born every year [1]. On rare
occasions, it is also manifested in males.
The most prominent symptoms are neurological,
including epileptic attacks, motory deficits, neurogenic
apnea and belated or absent speech. Rett syndrome
includes periphery pathologies, such as osteopenia,
scoliosis, gastrointestinal dysfunction and general growth
deficit. It is characterised by normal early growth and
development followed by tardiness, loss of voluntary
movement of the hands, stereotypical movements of
the hands, slow growth of the brain and head, walking
problems, epileptic attacks and intellectual disabilities.
The patient in the presented case report is a girl, aged
5 years, investigated due to developmental issues, with
a mutation in the MECP2 gene that codes the methylCpG-binding protein 2 (MeCP2) suggesting Rett syndrome [1].
development of brain, which results in severe mental
and physical impairment. It is estimated that it affects
one of 10,000 females born every year [1]. On rare
occasions, it is also manifested in males.
The most prominent symptoms are neurological,
including epileptic attacks, motory deficits, neurogenic
apnea and belated or absent speech. Rett syndrome
includes periphery pathologies, such as osteopenia,
scoliosis, gastrointestinal dysfunction and general growth
deficit. It is characterised by normal early growth and
development followed by tardiness, loss of voluntary
movement of the hands, stereotypical movements of
the hands, slow growth of the brain and head, walking
problems, epileptic attacks and intellectual disabilities.
The patient in the presented case report is a girl, aged
5 years, investigated due to developmental issues, with
a mutation in the MECP2 gene that codes the methylCpG-binding protein 2 (MeCP2) suggesting Rett syndrome [1].
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