Elejalde syndrome - A neuroectodermal melanolysosomal disease: A case report.
| Autor: | Noohi AH; Department of Pediatric, Imam Ali Hospital, Alborz University of Medical Sciences, Karaj, Iran., Shojaaldini Ardakani H; Department of Pediatric, Imam Ali Hospital, Alborz University of Medical Sciences, Karaj, Iran., Khashayar K; Department of Pediatric, Imam Ali Hospital, Alborz University of Medical Sciences, Karaj, Iran., Najafi L; Endocrine Research Center, Institute of Endocrinology and Metabolism, Iran University of Medical Sciences, Tehran, Iran. |
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| Jazyk: | angličtina |
| Zdroj: | Caspian journal of internal medicine [Caspian J Intern Med] 2024 Winter; Vol. 15 (1), pp. 193-198. |
| DOI: | 10.22088/cjim.15.1.24 |
| Abstrakt: | 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. Competing Interests: The authors declare that there is no financial and non-financial conflicts of interest that could be perceived as prejudicing the impartiality of the research reported. (© The Author(s).) |
| Databáze: | MEDLINE |
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