Caspian Journal of Internal Medicine
Babol University of Medical Sciences
Tue, Mar 18, 2025
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Volume 15, Issue 1 (Winter 2024)
Caspian J Intern Med 2024, 15(1): 193-198 |
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Noohi A H, Shojaaldini Ardakani H, Khashayar K, Najafi L. Elejalde syndrome - A neuroectodermal melanolysosomal disease: a case report. Caspian J Intern Med 2024; 15 (1) :193-198
URL: http://caspjim.com/article-1-3222-en.html
URL: http://caspjim.com/article-1-3222-en.html
Endocrine Research Center, Institute of Endocrinology and Metabolism, Iran University of Medical Sciences, Tehran, Iran , lailynajafi@yahoo.com
Abstract: (771 Views)
Background: 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.
Case Presentation: 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.
Conclusion: 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.
Case Presentation: 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.
Conclusion: 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.
Keywords: Elejalde Syndrome, Neuroectodermal Melanolysosomal Disease, Silvery-gray hair, Silvery Hair Syndrome
Type of Study: case report |
Subject:
Genetics
Received: 2021/11/21 | Accepted: 2022/09/10 | Published: 2024/01/19
Received: 2021/11/21 | Accepted: 2022/09/10 | Published: 2024/01/19
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