Di Džordža sindrom
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Date
2020
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Rīgas Stradiņa universitāte
Rīga Stradiņš University
Rīga Stradiņš University
Abstract
Šajā klīniskajā gadījumā tiek prezentēta 10 gadus veca paciente, kurai agrīnā vecumā apstiprināja DiDžordža sindromu. Galvenās sūdzības pacientei ir saistītas ar vieglu garīgu atpalicību un psihomotoru aizturi. Pacientei var novērot raksturīgas fenotipiskas sejas izmaiņas.
DiDžordži sindroms var izpausties ar ļoti variablu klīnisko ainu. Jo smagāka ir sindroma klīniskā izpausme, jo agrāk tiek noteikta diagnoze. Neskatoties uz to, ka mūsu pacientei slimības gaita nebija smaga tādēļ, ka diagnoze ,dažreiz, var būt novēlota līdz pat pieaugušo vecumam, viņai slimība tiek diagnosticēta agrīnā vecumā.
Darba mērķis ir demonstrēt, ka DiDžordža sindroms var izpausties arī bez tādām smagām klasiskām pazīmēm kā iedzimtas sirds anomālijas, aukslējas defekts, simptomātiska hipokalciēmija agrīnā vecumā un imūndeficīts. Tas nozīmē, bērniem ar vieglu psihomotoru aizturi un dismorfiskām sejas izmaiņām diferenciāldiagnozē būtu jāpadomā par DiDžordža sindromu.
In this clinical case report we present a 10-years-old girl, who’s been diagnosed with DiGeorge syndrome in early childhood. The main problems that our patient is experiencing are mild developmental delay and phenotypical facial features. DiGeorge syndrome can present with a very wide array of clinical features. The more severe is disease presentation, the earlier correct diagnosis is established. Despite of our case not being so severe, which can lead to prolonged diagnosis, the diagnosis was established in early childhood. The goal of this case report is to demonstrate how DiGeorge syndrome can manifest without such clinical features as congenital heart defects, palatal defects, early onset of symptomatic hypocalciemia and immunodeficiency. In the absence of these major findings such as was the case in our patient, 22q11 DS must be considered in the differential diagnosis of developmental delay and mild dysmorphic features.
In this clinical case report we present a 10-years-old girl, who’s been diagnosed with DiGeorge syndrome in early childhood. The main problems that our patient is experiencing are mild developmental delay and phenotypical facial features. DiGeorge syndrome can present with a very wide array of clinical features. The more severe is disease presentation, the earlier correct diagnosis is established. Despite of our case not being so severe, which can lead to prolonged diagnosis, the diagnosis was established in early childhood. The goal of this case report is to demonstrate how DiGeorge syndrome can manifest without such clinical features as congenital heart defects, palatal defects, early onset of symptomatic hypocalciemia and immunodeficiency. In the absence of these major findings such as was the case in our patient, 22q11 DS must be considered in the differential diagnosis of developmental delay and mild dysmorphic features.
Description
Medicīna
Medicine
Veselības aprūpe
Health Care
Medicine
Veselības aprūpe
Health Care
Keywords
DiDžordža sindroms, ģenētiska pataloģija, 21q11 delecijas sindroms, klīniskais gadījums, DiGeorge syndrome, genetics, 21q11 deletion syndrome, clinical case