Difficulties with Diagnosis and Differential Diagnosis in Childhood Cerebral Phenotype of Adrenoleukodystrophy: A Case Report

Yildiz O., ÇAKIN MEMİK N. , KARA B. , Ardic H., Agaoglu B.

NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY, vol.48, no.4, pp.261-264, 2011 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 48 Issue: 4
  • Publication Date: 2011
  • Doi Number: 10.4274/npa.y5797
  • Page Numbers: pp.261-264


Adrenoleukodystrophy (ALD) is an X-linked recessive and neurodegenerative disease, which affects the central nervous system and the adrenal cortex. The childhood cerebral phenotype of ALD presents within the first ten years of lifespan and the initial symptoms generally rise as disorders in behavioral and cognitive areas. Progressive cognitive impairment causes decrease in school success, and generally, neurologic symptoms such as paresis and loss of visual function follow the initial symptoms. In this report, we aimed to discuss the difficulties with diagnosis and differential diagnosis in an 11-yearold boy whose psychological symptoms arose in childhood with no neurologic symptom except for cranial MR findings and whose ADL was diagnosed during psychiatric treatment 3 years after the onset of symptoms. (Archives of Neuropsychiatry 2011; 48: 261-4)