Category: Rare Genetic and Metabolic Diseases
Objective: To report a patient with Wilson’s disease (WD) who became symptomatic shortly after presenting Idiopathic Intracranial Hypertension (HII).
Background: WD’s pleomorphic clinical phenotype remains a challenge and neuroimaging may precede clinical symptoms (1,2,3,4). The association of WD and IIH is unknown.
Method: Case report of a patient with one-year follow-up.
Results: A 28-year-old female was admitted to the emergency department presenting only a 10-day history of a progressive headache, diplopia and papilledema. CT scan and angioCT showed signs of intracranial hypertension. Lumbar puncture revealed an opening pressure of 55cmH2O, with no abnormalities in CSF analysis. MRI showed symmetric and bilateral hyperintensities in putamen, mesencephalus and pontine tegmentum, ventrolateral aspect of both thalamus and signs of ferromagnetic deposition in the globus pallidum bilaterally, suggestive of a toxic-metabolic etiology. She was discharged for ambulatory follow-up using acetazolamide for IIH treatment, with improvement of headache and ophthalmological symptoms. After 3 months, she was readmitted due to urinary tract infection, reporting new onset of anxiety, inappropriate behavior and progressive balance and gait impairment in the past few weeks, leading to acetazolamide discontinuation. Neurological evaluation revealed a puerile behavior, apathy, cognitive impairment, bilateral parkinsonism and axial and appendicular ataxia. A new MRI was performed, confirming previous findings. Laboratory investigation revealed a ceruloplasmin level of 9.6mg/dL and a 24-hour urinary copper of 67.35 mg/g. Ophthalmological assessment was performed, and Kayser-Fleischer rings were evidenced. Genetic testing revealed NM_000053.4 (ATP7B):c.3402del (p.Ala1135fs) and NM_000053.4 (ATP7B):c.3061-12T>A mutations, both classified as pathogenic and assigned as causing Wilson’s Disease in compound heterozygosity. Intracranial hypertension is not described as related to WD and neither the mutations found in this patient. One hypothesis to be considered is that acetazolamide may have triggered neurologic symptoms, due to its effect on gut sodium metabolism, which may have increased copper uptake, resulting in new neurological symptoms(5).
Conclusion: The association of WD and IIH is rare. The use of acetazolamide in patients with WD or imaging findings suggestive of WD, may be related to neurological deficits deterioration.
References: (1) Członkowska, A., Litwin, T., Dusek, P., et al. Wilson disease. Nature Reviews Disease Primers, 4(1), 2018.
(2) Hedera, P. Wilson’s disease: A master of disguise. Parkinsonism & Related Disorders, 2019. Feb;59:140-145.
(3) Sánchez-Monteagudo, A.; Ripollés, E.; Berenguer, M.; Espinós, C. Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease. Biomedicines 2021, 9, 1100.
(4) Frota NAF, Caramelli P, Barbosa ER. Cognitive impairment in Wilson’s Disease. Dement Neuropsychol, 2009, Jan-Mar;3(1):16-21,
(5) WAPNI, RA. Copper-Sodium Linkage during Intestinal Absorption: Inhibition by Amiloride. Proc Soc Exp Biol Med, 1991, Apr;196(4):410-4.
To cite this abstract in AMA style:V. Mesquita, F. Rolim, A. Gomes, R. Carvalho, P. Matos, A. Marinho, N. Frota, F. Carvalho. Idiopathic Intracranial Hypertension as the presenting symptom in Wilson’s Disease: how is it possible? [abstract]. Mov Disord. 2023; 38 (suppl 1). https://www.mdsabstracts.org/abstract/idiopathic-intracranial-hypertension-as-the-presenting-symptom-in-wilsons-disease-how-is-it-possible/. Accessed September 27, 2023.
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MDS Abstracts - https://www.mdsabstracts.org/abstract/idiopathic-intracranial-hypertension-as-the-presenting-symptom-in-wilsons-disease-how-is-it-possible/