Elejalde syndrome

Elejalde Syndrome (ES), also known as Neuroectodermal Melanolysosomal Disease, is a rare genetic disorder characterized by a range of physical and neurological abnormalities. The syndrome was first described by Elejalde et al. in 1977, following the observation of symptoms in affected individuals that included severe neurological impairment, hypopigmentation of the skin and hair, and distinctive facial features.

Symptoms and Characteristics

The primary features of Elejalde Syndrome include:

• Hypopigmentation: Individuals with ES exhibit a marked reduction in melanin, leading to lighter skin, hair, and eye color than unaffected family members.
• Neurological Impairment: Severe mental retardation, seizures, and muscle hypotonia are common among those affected.
• Facial Dysmorphology: Distinctive facial features may include a broad nasal bridge, hypertelorism (widely spaced eyes), and epicanthic folds.
• Growth Retardation: Affected individuals may experience delayed growth and development.

Causes

Elejalde Syndrome is caused by mutations in the MYO5A gene, which plays a crucial role in melanosome transport within melanocytes. The disruption of this process leads to the pigmentary and neurological manifestations observed in ES. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Diagnosis

Diagnosis of Elejalde Syndrome is primarily based on clinical observation of the characteristic symptoms. Genetic testing can confirm mutations in the MYO5A gene, providing a definitive diagnosis. Prenatal diagnosis may be available for families with a known history of the syndrome.

Treatment and Management

There is no cure for Elejalde Syndrome, and treatment is supportive and symptomatic. Management strategies may include:

• Neurological Care: Regular monitoring and treatment of seizures and other neurological symptoms.
• Physical Therapy: To address muscle hypotonia and promote motor development.
• Dermatological Care: Skin care recommendations to protect the hypopigmented skin from sun damage.
• Genetic Counseling: To provide affected families with information about the condition and its inheritance pattern.

Prognosis

The prognosis for individuals with Elejalde Syndrome varies depending on the severity of symptoms. Neurological impairment is typically severe, and affected individuals may require lifelong care and support. Early intervention and supportive therapies can improve the quality of life for those with ES.

See Also

• Genetic disorder
• Melanosome
• Hypopigmentation
• Autosomal recessive inheritance

External Links

• National Organization for Rare Disorders (NORD)
• Gene - National Center for Biotechnology Information (NCBI)