Saccadic parameters for early identification of neuronopathic Gaucher's disease.

For a successful treatment of the neurological form of Gaucher's disease ,an early identification is necessary. Often an alteration of the horizontal saccadic eye movements constitutes the first sign of a central nervous system involvement. In order to obtain an early identification of the neuronopathic forms of the disease, often masked by the use of the enzyme replacement therapy, the classical saccadic characteristics (Latency, Amplitude vs.

Cleft palate and keratoconus in a child affected by fetal alcohol syndrome: an accidental association?

This report describes the case of a 9-year-old girl affected by fetal alcohol syndrome who presented at birth with blepharophimosis and a cleft palate, which was submitted to surgery. She was referred to our hospital for a visual acuity reduction, where a diagnosis of keratoconus was made. This case highlights the rarity of the association between fetal alcohol syndrome and cleft palate and the previously unreported association involving fetal alcohol syndrome-keratoconus and cleft palate-keratoconus.

Polymicrobial keratomycosis in a three-year-old child.

Purpose: To describe a previously unreported case of polymicrobial mycotic keratitis caused by an association between Candida lusitaniae, C. parapsilosis, and Geotrichum candidum.

Methods: A three-year-old child with an antecedent trauma with vegetable matter and a prolonged use of corticosteroid eyedrops developed fungal keratitis.

Type 3 Gaucher's disease in a three-year-old child: saccadic eye movements analysis.

Gaucher's disease (GD) is an autosomal-recessive disorder that leads to the storage of sphingolipid material (glucocerebroside) in different peripheral tissues and sometimes in the central nervous system. Among its three existing forms, the most frequent non-neurological form (type 1: GD1) is treatable with appropriate amounts of exogenous enzyme-replacement therapy (ERT), whereas in the type 3 form (GD3), progression of the neurological involvement may be slowed down or halted by much higher doses of ERT than those used in GD1 because of the inability of ERT to cross the blood-brain barrier.