Male, single child, born at 40 weeks of gestation by cesarean section.
As a family history, it should be noted that her mother had non-insulin dependent diabetes mellitus since she was 17 years old and that there was no consanguinity between her parents.
At four months of life, she suffered cardiorespiratory arrest, diagnosed with cardiomyopathy (1).
During hospitalization, she begins with photophobia and intermittent nystagmus, and a review of her place of origin is recommended.
The child has a psychomotor retardation so a Nuclear Magnetic Resonance (NMR) is requested and starts from the year of life of early stimulation, with treatment in eight months the proposed objectives.
MRI showed small areas of signal increase at T2 and FLAIR in the periatrial and white matter regions.
Two years later, the patient was admitted to our hospital for ultrasound and pathology study.
Path mapping shows absence of normal responses and visual evoked potentials (VEP).
Ophthalmoscopy showed nystagmus with intense photophobia.
The anterior segment and the eye fundus are normal.
Since the clinical diagnosis is suggestive of Alström Syndrome, a genetic study is requested in which after analyzing exons 10, 16 and a segment of exon 8 of the gene ALMS-1 (3) these mutations are not detected yet.
