Two Siblings with Triple-A Syndrome: Endocrinologic and Neurologic Features
Makaleler > Tam Makale · 2018
Yazarlar: Nilüfer Özdemir KUTBAY, Fatma KEKLİK KARADAĞ, Banu Pınar ŞARER YÜREKLİ, gökçe KAVASOĞLU, Nevin ORUÇ, Mehmet ERDOĞAN, Şevki ÇETİNKALP, Ahmet Gökhan ÖZGEN, Lütfiye Füsun SAYGILI
TURKISH JOURNAL OF ENDOCRINOLOGY AND METABOLISM, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2018, cilt 22, ss 45-49
Özet
Triple-A syndrome is a rare, multi-systemic disease and is characterized by adrenal insufficiency, achalasia, or alacrima. The symptoms may also involve neurologic manifestations, including pyramidal findings and peripheral motor neuropathy. Other findings include autonomic dysfunction and cerebellar ataxia. In the present study, we present the case of two siblings with triple-A syndrome with neurologic manifestations. The neurologic abnormalities can lead to misdiagnosis owing to resemblance to the manifestations of other neurologic disorders. Therefore, the cases with triple-A syndrome should be carefully evaluated and examined for clinical and neurophysiologic signs.