MİKROSEFALİ ETİYOLOJİSİ: 5 YILLIK DENEYİM
Akyan, Şule Selin
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Microcephaly is a developmental disorder in which the head circumference, measured as an occipitofrontal, is below the third circumferential, or at least 2 standard deviations (SD), relative to age, gender, and ethnic origin. A standard initial diagnosis approach will enable early diagnosis and treatment to increase awareness of related diseases, and increase the use of diagnostic and therapeutic methods. The aim of this study is to evaluate the diagnostic approach of microcephaly in childhood and to determine the prevalence of various underlying causes / diseases, and to determine a standard diagnostic approach according to disease frequency. 1474 patients who had microcephaly in prenatal examination after 32 weeks of gestation to 18 years of age was admitted to any of the outpatient clinics of Hacettepe University Hospitals between July 2012 and July 2017 due to microcephaly. Of the 125 patients who had access to birth head circumference, 54% (n = 68) had a head circumference below the 3rd percentile. Patients' head circumference distribution (SDS) was -2 / -3 patients with a rate of 24,97% (n = 368), -3 / -4 patients with a rate of 30,6% (n = 451), -4 / -5 patients the rate of 18.3% and -5 / -6 patients with a rate of 11,87%. According to the majority of patients, 68,72% were genetic, 4,21% were related with chronic disease, 3,73% were related to metabolic disease and 3,39% were found to have a perinatal / antenatal brain injury etiology. Of the 906 patients who had records for the seizure history, 39% were diagnosed with epilepsy and 93,77% of these patients had clinical seizures and an electroencephalography determined seizure. The findings were abnormal in 80,3% (n = 318) of the patients with the findings of developmental evaluation. The global development retardation rate was determined to be 88,6% in the patients with developmental evaluation abnormalities evaluated by DENVER II developmental screening test (GTT). The patients with WISC-R were found to have a mild intellectual disability rate of 51,1% (n = 24), a moderate mental disability rate of 44,7% (n = 21) and a severe mental deficiency rate of 4,3% (n = 2) determined. When the DENVER II findings of the patients with developmental retardation were evaluated, 91,1% of the patients had language, 82,7% had personal and social, 89,3% had gross motor and 87.1% had thin motor area regression. 29,72% (n = 438) of the patients who underwent cranial MRI showed abnormal findings. Cerebral anomaly in 94.3% (n = 438), brain stem dysplasia in 16.7% (n = 73), cerebellar anomalies in 11.6% (n = 51), pituitary gland hypoplasia in 1,4% (n = 6) and meningoencephalocele in 0.2% (n = 1) of the patients with abnormal cranial MRI findings, were detected. Head circumference SD and growth retardation rates were significantly different between the etiology groups. In conclusion, microcephaly is an important risk factor for epilepsy, mental insufficiency and global growth retardation. Therefore, microcephalic patients should be closely monitored in terms of epilepsy, mental insufficiency and global growth retardation, and counseling should be provided to their families. Early initiation of rehabilitation programs in microcephalic patients may positively affect prognosis. In addition, it was found that cranial MRI was important for the clarification of some etiologies.