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Neurological development over a period of 25 years and MRI findings are reported in two members of the same family affected by mannosidosis type II. Progressive axial and appendicular cerebellar syndrome, moderate hearing loss and deterioration of gait were present in both patients. Neuropsychological deficiency was severe, but progression over the years was not observed except in the woman's speech capacity. Neither of the patients showed clinical improvement. A progressive corticosubcortical atrophy stands out in the brain neuroimaging studies, especially at the vermian cerebellar level. The osseous cranial deformities are very characteristic and include brachycephaly, thickening of the calvaria at the expense of the diploe, and poor pneumatization of the sphenoid. Neither of our cases showed an empty sella turcica.
J R Ara, and
E Mayayo, and
M E Marzo, and
S Guelbenzu, and
A Chabás, and
M A Pina, and
C Calderón
June 2013,
Orphanet journal of rare diseases,
J R Ara, and
E Mayayo, and
M E Marzo, and
S Guelbenzu, and
A Chabás, and
M A Pina, and
C Calderón
December 1976,
The American journal of medicine,
J R Ara, and
E Mayayo, and
M E Marzo, and
S Guelbenzu, and
A Chabás, and
M A Pina, and
C Calderón
January 1948,
Montpellier medical,
J R Ara, and
E Mayayo, and
M E Marzo, and
S Guelbenzu, and
A Chabás, and
M A Pina, and
C Calderón
June 1947,
The Journal of heredity,
J R Ara, and
E Mayayo, and
M E Marzo, and
S Guelbenzu, and
A Chabás, and
M A Pina, and
C Calderón
August 1954,
Archives of disease in childhood,
J R Ara, and
E Mayayo, and
M E Marzo, and
S Guelbenzu, and
A Chabás, and
M A Pina, and
C Calderón
January 2003,
Indian journal of dermatology, venereology and leprology,
J R Ara, and
E Mayayo, and
M E Marzo, and
S Guelbenzu, and
A Chabás, and
M A Pina, and
C Calderón
April 1950,
The Medical journal of Australia,
J R Ara, and
E Mayayo, and
M E Marzo, and
S Guelbenzu, and
A Chabás, and
M A Pina, and
C Calderón
September 2006,
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP,
J R Ara, and
E Mayayo, and
M E Marzo, and
S Guelbenzu, and
A Chabás, and
M A Pina, and
C Calderón
October 1988,
Journal of medical genetics,
J R Ara, and
E Mayayo, and
M E Marzo, and
S Guelbenzu, and
A Chabás, and
M A Pina, and
C Calderón
August 1979,
Psychological reports,
