en Genetics case report case report <span style="font-size:14px;"><span style="font-family:Times New Roman;"><span style="line-height:14pt"><b><i><span style="color:blue">Background:</span></i></b> Elejalde syndrome is a rare neuroectodermal melanolysosomal disease with an autosomal recessive heredity. Patients usually present with silvery-gray hair, neurological abormalities, diffuse skin hypopigmentation and suntanned skin color.</span><br> <span style="line-height:14pt"><b><i><span style="color:blue">Case Presentation:</span></i></b> A 3 1/2-year-old boy presented with hemiplegia since the day before admission. Durig hospital admission, he experienced episodes of status epilepticus and loss of consciousness and underwent mechanical ventilation. The patient had silvery-gray hair, consequently the pathologic evaluation of the hair shaft, revealed enlarged irregularly spaced melanin clumps characteristic for silvery-gray hair syndrome. No immunologic dysfunction was detected due to immunological evaluations, subsequently Elejalde syndrome was confirmed.</span><br> <span style="line-height:14pt"><b><i><span style="color:blue">Conclusion:</span></i></b><b> </b>This study adds one new case to the known cases of Elejalde syndrome and confirms that Elejalde patients may not exhibit neurological symptoms until an older age.<b><i><span style="color:#0033cc"></span></i></b></span></span></span> Elejalde Syndrome, Neuroectodermal Melanolysosomal Disease, Silvery-gray hair, Silvery Hair Syndrome 193 198 http://caspjim.com/browse.php?a_code=A-10-2023-2&slc_lang=en&sid=1 Amir Hossein Noohi a.n200029@yahoo.com 100319475328460046609 100319475328460046609 No Hossein Shojaaldini Ardakani Drshojaaldini@gmail.com 100319475328460046610 100319475328460046610 No Kiavash Khashayar Kiavash.khashayar@yahoo.com 100319475328460046611 100319475328460046611 No Laily Najafi lailynajafi@yahoo.com 100319475328460046612 100319475328460046612 Yes Endocrine Research Center, Institute of Endocrinology and Metabolism, Iran University of Medical Sciences, Tehran, Iran