Alström syndrome in two affected sibs: the importance of a precocious diagnosis

GB Pozzan, F Rigon, L Pinello, NA Greggio,

Department of Pediatrics, University of Padova, Italy

Alström syndrome may be diagnosed at different ages particularly when signs and symptoms are well documented. Up to date only few cases are reported in the first year of life giving some lack in the knowledge about the way of appearance .

We reported two sibs (a boy and a younger girl) with Alström syndrome and cardiomyopathy at birth. The boy came to our attention when he was 6 years old presenting a fully expressed disease which comprised dilated cardiomyopathy, retinal degeneration, neural transmitted deafness, obesity, impaired glucose tolerance and acanthosis nigricans. He presented cardiomyopathy with a life threatening event in the first weeks of life which it resolved in the first year. At present obesity, glucose tolerance and acanthosis nigricans with diet and physical activity are quite improving. When the younger sister was born she was immediately followed up and successfully treated by cardiologists in order to prevent major cardiologic problems. At the age of 11 months the diagnosis of Alström syndrome was confirmed by demonstration of the identical haplotype of her brother. At that time the baby was not obese; her mother referred an initial photophobia and ERG demonstrated a moderate deterioration in photopic patterns while there were not alterations in evoked potential of trunc (BAERS). The girl start to increase in weight after the first year of life. At the age of two she presented only a slightly elevated insulinemia while at present (3 years old), despite parents care, the girl is obese but with normal glucose tolerance and hyperinsulinemia. A visual rehabilitation program (lens, spectral filters, optical aids and psycological support) is undergoing. Up to date she doesn’t have hearing problems. The analysis of these cases is of interest and permits some considerations:

1. Obesity must be prevent since the first months of life because of the precocious appearance of metabolic disturbances.
2. Importance to prevent glucose tolerance impairment with diet and changes in style of life.
3. Precocious disease diagnosis to avoid major cardiologic problems.
4. Importance to detect an early photopic system alteration for improvement of quality of vision by visual rehabilitation and reduction of photophobia.