Revista Cubana de Pediatría
On-line version ISSN 1561-3119
MENENDEZ, Ibis; MENENDEZ, Caridad; CEPERO, Fara and GUTIERREZ, Enna. Mucolipidosis II: Estudio clínico, bioquímico y genético. Rev Cubana Pediatr [online]. 1998, vol.70, n.1, pp. 53-58. ISSN 1561-3119.
A metabolic disease knwon as Mucolipidosis II which affects a six-monts old girl is described in this work. Facies tosca, marked gingival hyperplasia, short neck, thorax deformity, thick and firm skin, and marked psychomotor retardation were detected when the girl was physically checked. The early onset of the disease, the oligosacharide excretion in urine and the typical behaviour of raised serum lysosomal enzimes levels made this diagnosis possible.
Keywords : MUCOLIPIDOSIS.