Two Siblings with Triple-A Syndrome: Endocrinologic and Neurologic Features


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KUTBAY N. Ö. , KEKLİK F. , ŞARER YÜREKLİ B. P. , KAVASOĞLU g., ORUÇ N. , ERDOĞAN M. , ...Daha Fazla

TURKISH JOURNAL OF ENDOCRINOLOGY AND METABOLISM, cilt.22, ss.45-49, 2018 (ESCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 22 Konu: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.25179/tjem.2017-56501
  • Dergi Adı: TURKISH JOURNAL OF ENDOCRINOLOGY AND METABOLISM
  • Sayfa Sayıları: 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.