CDKL5 (CYCLIN-DEPENDENT KINASE-LIKE 5) DISORDER AND ITS NEUROLOGICAL REPERCUSSIONS ON A PEDIATRIC PATIENT

INTRODUCTION: Little is known about the functions of the CDKL5 gene and itsproteins, but it's already possible to identify its intracellular location; in thedevelopment early stages, there is a higher concentration in the cytosolic fraction,after this period, a gradual increase in the CDKL5 concentration occurs in thenuclear fraction (Oi et al., 2016), indicating citoplasmatic and nuclear regulationactivity from other genes. Additionally, it has been verified that mutations on theMECP2 and CDKL5 genes cause similar phenotype, demonstrating MECP2 is possiblyphosphorylated directly by the CDKL5 (Pini et al., 2012). Clinical characteristicsfound in the CDKL5 disorder include seizures at an early start (usually in the first 3months of life), abnormal muscle tone, stereotyped hand movements,gastrointestinal problems and severe global developmental delay (Fehr et al.,2013).According to (Tao et al., 2004) , clinical attributes presented by patients with CDKL5disorder can overlay characteristics from other alterations, like autism for example.CASE DESCRIPTION: Patient L.C.L.F.S.S. born May 2nd 2015 (05/02/15) by a Csectionwith gestational age of 38 weeks in a pregnancy without complications andprenatal care done. At birth, patient exhibited head circumference of 36 centimetersand Apgar score of 9 in the first minute and 10 in the second minute. The patient’sdevelopment in the first month was expected of the age, yet with about 1 monthand 10 days started to present colics followed by seizure episodes. After this period,she was hospitalized and performed a electroencephalogram, tomography and labexams. With about 2 months, she carried out an appointment with a pediatricneurologist who ordered other exams, at first there was suspicion of Westsyndrome. Already in 2017, it was performed a exam sequencing with confirmationof CDKL5 disorder. Currently, patient displays symptomatology of epileptic crisisthat are hard to control, such fact is proven by the constant medicationaladjustment, to this moment, there has been no medication with total control overthe crisis, variations on the pattern of the electroencephalogram exam, atypichands, hypotonia, manifests visual interaction, presents good general state, no apathy, furthermore does not exhibit gastrointestinal alterations and feeds through oral administration, dismissing nutrition through nasogastric tube, a common aspectin the syndrome. DISCUSSION: It is known that it is a disorder difficult to identify,therefore new informations regarding this subject must be divulged in order toprovide a better understanding in the scientific community about the CDKL5mutation. In the case described in patient L.C.L.F.S.S. there was a certain delay tomake the right diagnosis, causing damages to the patient and its family, such factreinforces, once again, the significance of the subject matter.