[Fabry's disease: diagnosis in the pediatric age group]

Fabry's disease is the second most frequent alteration of glycosphingolipid lysosomal storage diseases (after Gaucher's disease). Typical symptomatology starts in the first decade of life. Neuropathic pain, gastrointestinal involvement with abdominal pain, vomiting and diarrhea and cutaneous manifestations (angiokeratoma) significantly impair quality of life. However, diagnosis is usually made late, in adults aged 20-30 years old. Thus, the aim of this review is to draw pediatricians' attention to the manifestations of Fabry's disease in infancy and childhood, especially now that enzymatic replacement therapy with proven efficacy is available.

We performed an extensive literature review to present the maximum available information on the pediatric manifestations of Fabry's disease.

The most frequent symptomatology before the age 16 years includes neuropathic pain, angiokeratoma, abdominal pain, vomiting, diarrhea, hypoacousia, proteinuria, ophthalmologic alterations, hypohidrosis, fever, and characteristic facial phenotype. The onset of Fabry's disease may occur in infancy but the mean delay in diagnosis is 10 years after the first symptoms.

Increased awareness of Fabry's disease in infancy and childhood could lead to early diagnosis and treatment thus avoiding disease progression.