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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

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[Alström Hallgren syndrome].

D Puertas-Bordallo¹, B De-Domingo-Barón, M Lozano-Vázquez

¹Sección de Oftalmología/Estrabología del Hospital Infantil Universitario Niño Jesús de Madrid, España. dpuertas.hnjs@salud.madrid.org

Archivos De La Sociedad Espanola De Oftalmologia

|October 12, 2007

Summary

Alström syndrome, a rare inherited disorder, presents with progressive vision loss, hearing loss, and diabetes. Genetic testing confirms the diagnosis, crucial for managing this complex condition.

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Area of Science:

Genetics
Ophthalmology
Endocrinology

Background:

Alström syndrome is an inherited condition caused by mutations in the ALMS1 gene.
It leads to progressive vision loss, sensorineural hearing loss, insulin resistance, obesity, and cardiac issues.

Observation:

A four-year-old male experienced cardiopulmonary shutdown and dilated cardiomyopathy.
Subsequent nystagmus, photophobia, and ophthalmologic findings indicated Alström syndrome.

Findings:

Diagnosis was challenging due to uncommon clinical features, necessitating a multidisciplinary approach.
Molecular genetic studies confirmed Alström syndrome in 25-40% of cases.

Implications:

Early diagnosis through genetic testing is vital for managing Alström syndrome.
Symptomatic treatment is the current approach, with highly variable prognoses.