39-year-old male patient, single child, with healthy parents, single and without children.
He had a history of chronic diarrhea at one year of life, bilateral cataract operated at 20 years and psychiatric disease since adolescence, catalogued as bipolar disease and schizophrenia.
She had received multiple nerve blocks, carbamazepine and lithium.
Five years ago, the patient had progressive cognitive impairment. Six months ago, gait instability, urinary incontinence and increased volume in both ankles were added.
Due to the increase in bilateral volume of the posterior region of both ankles he consulted in Traumatology.
The beginning of the increase in volume was insidious, without associated trauma and its progressive and painless evolution.
Physical examination revealed an increase in the supporting area associated with seizures and clonus of both extremities.
An increase in fusiform volume was also observed in the posterior region of both ankles, in relation to the achilles tendons, from their distal insertion to the muscle-tendon junction.
Fixation was painless and firm.
The skin at the area of increased volume was healthy and the joint examination was normal.
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Neurology evaluation was requested with the presumptive diagnosis of brain-tendonous xanthomatosis.
Neurological examination revealed a puerile patient with ideomotor apraxia. Examination of the cranial nerves was normal, had spastic tetraparesis with increased bilateral clobinski signs and lower extremities.
Sensory examination revealed severe alteration of postural and vibratory sensitivity.
The meningeal signs were absent and the cerebellar examination showed severe gait ataxia, requiring the help of two persons for mental retardation and mild dysmetria of 4 limbs.
The eye fundus was normal.
Magnetic resonance imaging (MRI) of the brain and spinal cord was requested, as well as determination of plasmatic mannitol (consigned to the Mayo Clinic in Rochester, United States of Spinal Cord).
The FLAIR sequence of magnetic resonance imaging of the brain showed hyperintensity of the dentate nuclei of the cerebellum bilaterally as well as multiple nonspecific supratentorial hyperintense lesions.
Spinal cord MRI showed extensive hyperintense lesion of the posterior columns.
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Both cerebellar and spinal cord lesions were characteristic of cerebrotendinous xanthomatosis.
Brain-tendon xanthomatosis was diagnosed in 45 mmol/ml (normal value less than 13 Mmol/ml).
Treatment was initiated with knodeoxycholic acid (250 mg every 8 h).
After 8 months of treatment the patient had an auto-valent life, was able to walk alone, persisted with urinary incontinence and had no psychiatric problems.
Tendinous xanthomas decreased in size.
