A 12-year-old female patient, daughter of first-degree consanguineous parents, Mapuche.
A history of pregnancy and childbirth is unknown.
He was a term newborn, suitable for gestational age.
He was admitted to a shelter where cerebral palsy was diagnosed.
It was adopted at the age of 3 years and started permanent rehabilitation.
From the first months of life psychomotor and height retardation was observed.
He managed to acquire gait, two-word language and writing skills until he was five years old.
The somatomotor examination revealed permanent nystagmus, without opacities, axial and motor hypotonias and inferior limb hyperreflexia.
His gait was ataxic with pancerebelous syndrome.
They highlight involuntary movements, such as myoclonus and chorea that appeared in their evolution.
A decrease in visual acuity became evident from the age of 3 onward.
The eye fundus revealed a pigmentary retlnopathy and optics not previously described, so a study was initiated to search for a neurodegenerative disease.
There were no dysmorphia, corneal opacities, skeletal alterations or visceromegaly.
Subsequently, the patient presented a digestive disorder.
Antiepileptiform discharges were treated with antiepileptic drugs due to their involuntary movements.
There was no evident change with the drugs.
Measurements of amino acids in blood, urine and cerebrospinal fluid, acylcarnitolones, organic acids, mucopolysaccharides in urine were performed, all of them showed normal levels of lysosomal acid.
The comparison of different brain MRI in a 7-year period showed cerebral palsy and progressive cerebellar cerebellum, more loss of corpus callosum and alterations of cerebral white matter.
Finally, skin and conjunctival ultramicroscopy reported accumulations of mucoplasmosis characteristic of ML-LV.
