Mucolipidosis tipo IV en una paciente con ancestros mapuches: caso clínico / Mucolipidoses type IV in a patient with Mapuche ancestry
Rev. méd. Chile
; 136(7): 892-895, jul. 2008. ilus
Article
in Spanish
| LILACS
| ID: lil-496011
Responsible library:
BR1.1
ABSTRACT
We report a 7 year-old girl with mapuche ancestors, diagnosed as a cerebral palsy since infancy and on active rehabilitation. She acquired motor and cognitive skills at 3 years of age. At 5 years of age, a slow neurological deterioration started, associated to visual impairment. Optic atrophy was added to the typical neurological exam ofataxic cerebral palsy and the diagnosis was re-considered. Neuroimaging showed a slow and progressive atrophy of intracerebral structures and ultramicroscopy revealed intracytoplasmatic inclusions in conjunctiva and skin, compatible with mucolipidoses type IV (ML-IV). ML-IV must be included in the differencial diagnosis of cerebral palsy associated with loss of acquired skills and progressive visual impairment. Electrón microscopy of skin or conjunctiva is a useful diagnostic test. Suspicion of ML-IV must not be restricted to Ashkenazi Jewish population.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Cerebral Palsy
/
Mucolipidoses
Type of study:
Diagnostic study
Limits:
Child
/
Female
/
Humans
Country/Region as subject:
South America
/
Chile
Language:
Spanish
Journal:
Rev. méd. Chile
Journal subject:
Medicine
Year:
2008
Document type:
Article
Affiliation country:
Chile
Institution/Affiliation country:
Pontificia Universidad Católica de Chile/CL