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Fırat Tıp Dergisi |
2019, Cilt 24, Sayı 1, Sayfa(lar) 057-059 |
[ Turkish ] [ Tam Metin ] [ PDF ] |
Hyperekplexia or Hereditary Startle Disease with Psychiatric Symptoms: Case Reports of Three Siblings |
Mahmut Zabit KARA1, Mehmet Hamdi ÖRÜM2 |
1Adıyaman Üniversitesi Eğitim ve Araştırma Hastanesi, Çocuk ve Ergen Ruh Sağlığı ve Hastalıkları Kliniği, Adıyaman, Türkiye 2Adıyaman Üniversitesi Tıp Fakültesi, Psikiyatri Anabilim Dalı, Adıyaman, Türkiye |
Hyperekplexia, also known as hereditary startle disease, is a rare neurogenetic disorder characterized by exaggerated startle response and neonatal hypertonia to unexpected auditory, somatosensory and visual stimuli. This disorder can lead to serious consequences such as brain damage and sudden infant death in the new born. In childhood, adolescence and adulthood, it may be presented with various medical and psychiatric disorders. In this case report, we discussed hypothyroidism and psychiatric symptoms associated with three sibling hyperekplexia patients. Psychiatric disorders that accompany neurological illness have a negative effect on patients\' compliance with treatment and reduce the ability of families to cope. The holistic evaluation of the patient and the family is important.
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[ Turkish ] [ Tam Metin ] [ PDF ] |
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