Elejalde syndrome - A neuroectodermal melanolysosomal disease: A case report

Abstract

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.

Keywords: Elejalde syndrome; Neuroectodermal melanolysosomal disease; Silvery hair syndrome; Silvery-gray hair.

Figure 1

Brain MRI of three and half year old boy (signal change in external capsule, arrested hydrocephaly and hypomyelination in basal ganglia)

Figure 2A, 2B. 2A

A three and half year old boy with silvery-gray hair, eyelid lashes and eyebrows. 2B: Pathological evaluation of the hair shaft by light microscopy, revealed enlarged irregulary spaced melanin clump (×400)