Hipotonik bebeklerde genetik ve radyolojik incelemenin önemi
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Date
2023
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Namık Kemal Üniversitesi
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info:eu-repo/semantics/openAccess
Abstract
Hipotonik bebeklerde altta yatan etiyolojinin tanımlanması zor olmakla birlikte, prognoz öngörüsü için ve eğer varsa tedavisi için etiyolojinin bilinmesi gereklidir. Son yıllarda genetik teknolojilerin gelişmesi ve yaygınlaşması ile hastaların tanı alma olasılığı artmıştır. Anamnez, fizik muayene, temel biyokimyasal ve radyolojik tetkikler ile tanı alamayan hastalarda sırasıyla karyotip analizi, array karşılaştırmalı genomik hibridizasyon ve tüm ekzom analizinden yararlanılabilir. Bu çalışmada hipotonik infant tanısı ile izlenen olgularda temel fizik muayene ve anamnezin yanında genetik ve radyolojik değerlendirmelerin öneminin ve tanısal değerinin araştırılması amaçlanmıştır. Vakaların öz ve soygeçmişleri, laboratuvar sonuçları, radyolojik incelemeleri ve varsa genetik testleri retrospektif olarak hasta dosyalarından elde edilmiştir. İnfantil dönemden beri hipotonisitesi saptanan, takiplerine düzenli devam eden vakalar çalışmaya dahil edilmiştir. Takipsiz vakalar çalışmadan çıkarılmıştır. Çalışma 2019-2022 tarihleri arasında hastanemiz çocuk nörolojisi polikliniğine hipotoni tanısı ile refere edilen %38,2'si (n=65) kız, %61,8'i (n=105) erkek, toplam 170 olguyla yapılmıştır. Olguların %87,3'ünün (n=145) hipotoni tipleri santral iken; %12,7'sinin (n=21) periferik olduğu görülmüştür. Olguların yalnızca dört tanesinde mikst tip hipotoni gözlenmiştir. Olguların %48,2'sinin (n=82) manyetik rezonans görüntüleme sistem sonuçları normalken; %51,8'inin (n=88) patolojik olduğu görülmüştür. Olguların manyetik rezonans görüntüleme patolojik sonuçları incelendiğinde en sık patoloji %15,9'unda (n=27) periventriküler lökomalazi olarak görülmüştür. Vakaların 65'i (%38,2) genetik olarak tanı almıştı. Genetik tanı alan hastaların yarısından fazlasında tanıya tüm ekzom analizi ile ulaşılmıştır. Santral hipotoni düşünülen vakalarda yardımcı test olarak beyin manyetik rezonans görüntüleme ilk tercihtir. Klinik bulgular ve beyin MRG ile tanı alamayan hastalarda zaman kaybetmeden tüm ekzom analizi yapılması tanı alana kadar tedavisiz geçen süreyi kısaltır. Anahtar kelimeler: Hipotoni, genetik analiz, manyetik rezonans görüntüleme
SUMMARY Although it is sometimes difficult to define the underlying etiology in hypotonic infants, it is necessary to know the etiology for prognosis prediction and treatment. In recent years, with the development of genetic technologies, the probability of diagnosis of patients has increased. In patients who can not be diagnosed by patient's medical history, physical examination, basic laboratory and radiological screenings, genetic tests such as karyotype analysis, array-based Comparative Genomic Hybridization and whole exome sequencing can be used, respectively. In this study, it is aimed to investigate the importance and diagnostic yield of genetic and radiological evaluations as well as history taking and basic physical examination in cases followed up with a diagnosis of hypotonia. Patients' medical histories, laboratory results, radiological examinations, and genetic tests, if any, of the cases were obtained retrospectively from the patients' clinic files. Cases whose hypotonia has been detected since the infantile period and whose follow-up periods on going regularly were included in the study. Cases who lost the follow-up were excluded. The study was conducted with a total of 170 cases, 38.2% (n=65) female and 61.8% (n=105) male, who were referred to the pediatric neurology out-patient clinic between 2019 and 2022 with the diagnosis of hypotonia. Hypotonia type was central in 87.3% (n=145) of the cases and 12.7% (n=21) were peripheral. Mixed type hypotonia was observed in only four of the cases. Brain magnetic resonance imaging screenings were normal in 48.2% (n=82) and 51.8% (n=88) were found abnormal. The most common brain magnetic resonance imaging abnormality was periventricular leukomalacia in 15.9% (n=27). Sixty-five (38.2%) of the cases were diagnosed genetically. More than half of the patients with a genetic diagnosis were diagnosed by whole exome sequencing. Conclusion: Brain magnetic resonance imaging is the first choice as an adjunctive test in cases with suspected central hypotonia. In patients who can not be diagnosed with clinical findings and brain magnetic resonance imaging, performing whole exome sequencing test without losing time shortens the duration between patient visit to diagnosis. Key words: Hypotonia, genetic analysis, magnetic resonance imaging
SUMMARY Although it is sometimes difficult to define the underlying etiology in hypotonic infants, it is necessary to know the etiology for prognosis prediction and treatment. In recent years, with the development of genetic technologies, the probability of diagnosis of patients has increased. In patients who can not be diagnosed by patient's medical history, physical examination, basic laboratory and radiological screenings, genetic tests such as karyotype analysis, array-based Comparative Genomic Hybridization and whole exome sequencing can be used, respectively. In this study, it is aimed to investigate the importance and diagnostic yield of genetic and radiological evaluations as well as history taking and basic physical examination in cases followed up with a diagnosis of hypotonia. Patients' medical histories, laboratory results, radiological examinations, and genetic tests, if any, of the cases were obtained retrospectively from the patients' clinic files. Cases whose hypotonia has been detected since the infantile period and whose follow-up periods on going regularly were included in the study. Cases who lost the follow-up were excluded. The study was conducted with a total of 170 cases, 38.2% (n=65) female and 61.8% (n=105) male, who were referred to the pediatric neurology out-patient clinic between 2019 and 2022 with the diagnosis of hypotonia. Hypotonia type was central in 87.3% (n=145) of the cases and 12.7% (n=21) were peripheral. Mixed type hypotonia was observed in only four of the cases. Brain magnetic resonance imaging screenings were normal in 48.2% (n=82) and 51.8% (n=88) were found abnormal. The most common brain magnetic resonance imaging abnormality was periventricular leukomalacia in 15.9% (n=27). Sixty-five (38.2%) of the cases were diagnosed genetically. More than half of the patients with a genetic diagnosis were diagnosed by whole exome sequencing. Conclusion: Brain magnetic resonance imaging is the first choice as an adjunctive test in cases with suspected central hypotonia. In patients who can not be diagnosed with clinical findings and brain magnetic resonance imaging, performing whole exome sequencing test without losing time shortens the duration between patient visit to diagnosis. Key words: Hypotonia, genetic analysis, magnetic resonance imaging
Description
Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
Keywords
Nöroloji, Neurology ; Çocuk Sağlığı ve Hastalıkları
