Elejalde Syndrome Clinical Presentation

Updated: Jan 27, 2020
  • Author: Chris G Adigun, MD, FAAD; Chief Editor: Dirk M Elston, MD  more...
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Children with Elejalde syndrome can manifest with the disease as early as 1 month of life or in early childhood. The skin and neurologic systems are the most commonly affected. Psychomotor impairment may have 2 forms of presentation: congenital or infantile.

Some patients with Elejalde syndrome had severe mental retardation since the first months of life. They did not seem to recognize their parents, had almost complete absence of movements, were severely hypotonic, and were unresponsive to external stimuli.

Another group of patients had no history of early neurologic impairment and developed normally. By the time the patients were aged 3-11 years, they developed several rapidly regressive psychomotor processes. They were unable to speak, walk, and feed themselves, and they were bedridden.

Other symptoms include severe migraine headaches followed by hemiparesis, leg weakness progressing to severe hypotony involving the entire body, atactic cerebellar movements progressing into an inability to maintain muscular tone of the neck, profound hypotonia, and a resultant inability to walk or to speak.

Once the neurologic alterations occur, most patients have convulsive episodes. Neuromuscular disorders include constant severe generalized hypotonia as well as hyperactive deep tendon reflexes.

In a study by Duran-McKinster et al in 1999, [23] the age at onset of neurologic signs ranged from 1 month to 11 years. The manifestations of the brain pathology of Elejalde syndrome consisted of severe muscular hypotonia, ocular alterations, and seizures. Duran-McKinster et al [23] note mental retardation that first occurred before age 6 months in 4 patients. Psychomotor development was appropriate in 3 patients; however, the patients suddenly demonstrated a regressive neurologic process. Four patients died between age 6 months and 3 years after neurologic dysfunction began.

Others have noted spastic hemiplegia or quadriplegia and seizures that decrease over time.


Physical Examination

Immune impairment is absent. Ophthalmologic findings include nystagmus, diplopia, and congenital amaurosis. Respiratory infections can occur, but their relationship to the disease is unclear. [13] The scalp and body hair, the eyebrows, and the eyelashes have a silvery color. The skin can have a bronze or deep-tan color after sun exposure. [13] Chen [27] noted that omphalocele can be a finding in persons with Elejalde syndrome. Silvery hair syndrome occurs in both Elejalde syndrome and Griscelli syndrome, so the two other signs and symptoms need to be assessed to distinguish the two. [28]