Case Report
Volume 13 Issue 5 - 2021
Gaucher Disease: From a Specific Type to a Full Disease Sp
Alexander Biart Vega*, Patricia Castro Vega, Roisy Valdivia Mojena and Ramiro Jorge García García
Hospital Pediátrico Docente “Juan Manuel Márquez”, La Habana, Cuba
*Corresponding Author: Alexander Biart Vega, Hospital Pediátrico Docente “Juan Manuel Márquez”, La Habana, Cuba.
Received: March 21, 2021; Published: April 15, 2021


Objective: To demonstrate that Gaucher disease (GD) is expressed as a continuum of phenotypes in the same patient more than an isolated clinical form.

Clinical Case Report: An eleven-month-old female infant, first studied at the age of six month by the presence of global neurodevelopmental impairment, microcephaly, opisthotonus, apnea crisis, hepatomegaly, splenomegaly and external ophthalmoplegia, was diagnosed as infantile GD. This patient also showed Intrauterine Growth Restriction (IUGR), growth retardation, delayed ossification and immunoglobulin abnormalities characterized by polyclonal gammopathy (PG).

Conclusion: The presence of characteristic manifestations of a specific type of GD in a patient with the definitive diagnosis of another type allows the consideration of this disease like a continuum of phenotypes more than three isolated clinical forms.

Keywords: Gaucher Disease; Continuum of Phenotypes; IUGR; Bone Impairment; Immunoglobulin Abnormalities


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Citation: Alexander Biart Vega., et al. “Gaucher Disease: From a Specific Type to a Full Disease Spectrum” Tools Program at Epilepsy Foundation, India”. EC Neurology 13.5 (2021): 30-35.

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