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Título

CASE REPORT: WILSON' S DISEASE ON A 15-YEAR-OLD BOY WITH SEVERE NEUROLOGICAL IMPAIRMENT AND RARE CORPUS CALLOSUM INVOLVEMENT ON BRAIN MRI

RESUMO

A 15-year-old boy presented with a 6-month history of progressive loss of dexterity in his right hand, manifested by difficulty writing and also dysarthria, disphagya, generalized feeling of weakness and difficulty walking, dragging his right leg in the past months, slowness and shaking of hands. He was under thrombocytopenia on investigation. His parents are non-consanguineous and he has four older siblings and five other half siblings, all of them with no medical problems.
He was disoriented in time and place. He also had hypomimia, micrographia, dysarthria, rigidity and bradykinesia on four limbs and also dystonia on both hands and cervical muscles.
Lab investigations showed leukopenia with lymphopenia, thrombocytopenia, mild elevated GGT and elevated AST levels. His liver function was impaired, with prolonged RNI, normal albumin and bilirubin levels, but abnormal abdominal ultrasound, demonstrating chronic parenchymal liver disease and splenomegaly. Endoscopy showed esophageal varices without red spots. Serology such HIV, syphilis, HBsAg and HCV Ab were negative or normal. Ophthalmologic examinations were suggestive of Kayser-Fleischer rings on the initial stage.
On laboratory low concentrations of serum ceruloplasmin (2.9 mg/dL, normal 20–63), low serum copper (<0.25μg/ dL, normal 80–140) and increased daily urinary copper excretion (157 μg/24 h, normal 0–60). Gene sequencing later identified ATP7B c.3061-12T>A (intronic) / ATP7B deletion (exon 7), confirming Wilson's Disease.
MRI of the brain showed bilateral and symmetric T2 hyperintensity in basal ganglia (especially putamen), mid-pons, cerebellar peduncles, thalamus, which are typical regions of involvement for WD, but also showed and evident hyperintensity in the splenium of corpus callosum, an uncommon finding in the disease.
The patient was started on biperiden 2mg 8/8h for symptomatic control and we prescribed D-Penicillamine as a treatment plan.
Parkinson-like syndrome is the most common neurologic presentation of Wilson Disease, especially in adolescents. On Brain MRI the most common finding is T2 hyperintensity in putamen and involvement of other basal ganglia, pons, thalamus and the midbrain. Midbrain involvement led to the classic "face of the giant panda sign". Is it uncommon the involvement of frontal, parietal, temporal lobes, cerebellum and corpus callosum, the last being the rarest site of lesion.
Corpus callosum involvement was associated with more severe neurological and psychiatric dysfunction, more extensive brain lesions and longer course of disease.

Palavras Chave

Wilson disease; corpus callosum