Elejalde Syndrome Workup

Updated: Jan 27, 2020
  • Author: Chris G Adigun, MD, FAAD; Chief Editor: Dirk M Elston, MD  more...
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Laboratory Studies

Immunologic test results are normal for persons with Elejalde syndrome. New degranulation assays might aid in prompt diagnosis of diseases like Elejalde syndrome. [29]

Light microscopy of hair and skin biopsies are first-line tools to differentiate Elejalde syndrome from other silvery hair syndromes. [30] Polarized microscopy can also be a useful differentiating tool when light microscopy is inconclusive, as may occur in fair-haired patients, and when financial constraints preclude chromosomal analysis. [31]


Imaging Studies

Results of CT and MRI of the brain are usually abnormal in Elejalde syndrome patients, and findings include the following:

  • Abnormal findings in the periventricular white matter and the cerebellum

  • Abnormal findings in the gray matter and atrophy of the brain

  • Leukoencephalomalacia

  • Brain MRI - Prominent cerebellar atrophy with mild frontoparietal cortical atrophic changes [24]


Other Tests

Findings on electroencephalograms are usually abnormal in Elejalde syndrome patients.

Chromosomal analysis can be used to confirm a suspicion of Elejalde syndrome by revealing a mutation in the MYOVA protein found on band 5q21.1. [30]


Histologic Findings

Upon microscopic examination, hair samples from patients with Elejalde syndrome demonstrate irregular clumps of melanin.

The skin melanocytes of patients with Elejalde syndrome possess irregularly shaped melanosomes marked by an incomplete transfer-block toward surrounding keratinocytes. A few abnormal melanolysosomes occur in obligatory heterozygotes.

In the bone marrow, the abnormal structures have been noted to be excreted into the extracellular space. Ultrastructurally, abnormal inclusion bodies can be noted in fibroblasts, bone marrow histiocytes, and lymphocytes.

In one patient, a biopsy of leptomeningeal tissue and the cerebellar cortex revealed a thickened wall of meningeal membranes with a dense inflammatory infiltrate composed of mainly lymphocytes, scanty plasma cells, and macrophages.

The tissue of the cerebellar cortex in his patient showed a dense inflammatory infiltrate predominantly surrounding small veins and venules. Examination did not reveal necrotizing vasculitis. Cerebellar folia revealed multifocal necrosis in the entire width. Examination did not demonstrate viral inclusions or periodic acid-Schiff–positive microorganisms.

Multifocal necrosis of the cerebellar folia was accompanied by numerous foamy macrophages combined with gemistocytic astrocytes (astrocytes with eosinophilic, abundant cytoplasm and an eccentric nucleus) and mononuclear inflammatory cells.

Immunohistochemistry studies in patients with Elejalde syndrome have demonstrated that 80% of lymphocytes in the inflammatory infiltrate are T cells. The significance of this is unclear because such findings can be found in diverse viral diseases or immunoallergic conditions.