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Endocrine symptoms as the initial manifestation of Wilson's disease.

Krysiak R, Handzlik-Orlik G, Okopien B - Yale J Biol Med (2012)

Bottom Line: The difference in copper tissue accumulation is responsible for the various clinical manifestations of this disorder.In our paper, we present endocrine symptoms suggesting the presence of insulinoma and hyperprolactinemia as the initial clinical manifestation of Wilson's disease in a young female.Zinc acetate treatment resulted in the disappearance of hypoglycemia, galactorrhea, and menstrual abnormalities.

View Article: PubMed Central - PubMed

Affiliation: Department of Internal Medicine and Clinical Pharmacology, Medical University of Silesia, Katowice, Poland. r.krysiak@interia.pl

ABSTRACT
Wilson's disease is a rare genetic disorder of copper metabolism. The difference in copper tissue accumulation is responsible for the various clinical manifestations of this disorder. If left untreated, Wilson's disease progresses to hepatic failure, severe neurological disability, and even death. Due to the complex clinical picture of Wilson's disease, its diagnosis relies on a high index of suspicion. In our paper, we present endocrine symptoms suggesting the presence of insulinoma and hyperprolactinemia as the initial clinical manifestation of Wilson's disease in a young female. Zinc acetate treatment resulted in the disappearance of hypoglycemia, galactorrhea, and menstrual abnormalities.

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Hyperintensity of the caudate nuclei on magnetic resonance imaging (spin-echo T1 sequence).
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Related In: Results  -  Collection


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Figure 2: Hyperintensity of the caudate nuclei on magnetic resonance imaging (spin-echo T1 sequence).

Mentions: Hypoglycemia suggested the presence of insulinoma. The fasting test, the gold standard in diagnostics for this tumor type, had to be stopped after 36 hours because of sudden presyncope with neuroglycopenia and the features of enhanced sympathetic tone. However, the result of the test excluded the insulinoma diagnosis because in conditions of low glycemia (42 mg/dL), serum levels of insulin, C-peptide, and proinsulin were undetectable and concentration of β-hydroxybutyric acid was not decreased. Simultaneously performed biochemical diagnostics suggested Wilson’s disease: decreased levels of ceruloplasmin (140 mg/L, normal values: 200-600), an increased concentration of free copper (17 µg/dL, normal values: less than 10), an increased 24-hour urine copper excretion (131 µg/24h, normal values <80), the presence of Kayser-Fleischer ring in the cornea (Figure 1), and an abnormal signal from basal ganglia (Figure 2). The ultrasound and MRI images of the liver were normal. Doppler ultrasound revealed only discrete features of portal hypertension without esophageal varices in endoscopic examination. Wilson’s disease was confirmed by liver biopsy (Figure 3), increased hepatic copper (320 µg/g dry weight), and identification of H1069Q mutation in the gene ATP7B. Because of the Wilson’s disease diagnosis, d-penicillamine was administered, which was later replaced (due to thrombocytopenia) with zinc acetate (150 mg/day in three divided doses). Hypoglycemic symptoms occurred twice at the initiation of the treatment, but subsided after 2 months of continuous therapy. After 4 months of treatment, menstruation returned while galactorrhea disappeared. Control MRI of pituitary gland did not reveal any abnormalities.


Endocrine symptoms as the initial manifestation of Wilson's disease.

Krysiak R, Handzlik-Orlik G, Okopien B - Yale J Biol Med (2012)

Hyperintensity of the caudate nuclei on magnetic resonance imaging (spin-echo T1 sequence).
© Copyright Policy - open access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3375662&req=5

Figure 2: Hyperintensity of the caudate nuclei on magnetic resonance imaging (spin-echo T1 sequence).
Mentions: Hypoglycemia suggested the presence of insulinoma. The fasting test, the gold standard in diagnostics for this tumor type, had to be stopped after 36 hours because of sudden presyncope with neuroglycopenia and the features of enhanced sympathetic tone. However, the result of the test excluded the insulinoma diagnosis because in conditions of low glycemia (42 mg/dL), serum levels of insulin, C-peptide, and proinsulin were undetectable and concentration of β-hydroxybutyric acid was not decreased. Simultaneously performed biochemical diagnostics suggested Wilson’s disease: decreased levels of ceruloplasmin (140 mg/L, normal values: 200-600), an increased concentration of free copper (17 µg/dL, normal values: less than 10), an increased 24-hour urine copper excretion (131 µg/24h, normal values <80), the presence of Kayser-Fleischer ring in the cornea (Figure 1), and an abnormal signal from basal ganglia (Figure 2). The ultrasound and MRI images of the liver were normal. Doppler ultrasound revealed only discrete features of portal hypertension without esophageal varices in endoscopic examination. Wilson’s disease was confirmed by liver biopsy (Figure 3), increased hepatic copper (320 µg/g dry weight), and identification of H1069Q mutation in the gene ATP7B. Because of the Wilson’s disease diagnosis, d-penicillamine was administered, which was later replaced (due to thrombocytopenia) with zinc acetate (150 mg/day in three divided doses). Hypoglycemic symptoms occurred twice at the initiation of the treatment, but subsided after 2 months of continuous therapy. After 4 months of treatment, menstruation returned while galactorrhea disappeared. Control MRI of pituitary gland did not reveal any abnormalities.

Bottom Line: The difference in copper tissue accumulation is responsible for the various clinical manifestations of this disorder.In our paper, we present endocrine symptoms suggesting the presence of insulinoma and hyperprolactinemia as the initial clinical manifestation of Wilson's disease in a young female.Zinc acetate treatment resulted in the disappearance of hypoglycemia, galactorrhea, and menstrual abnormalities.

View Article: PubMed Central - PubMed

Affiliation: Department of Internal Medicine and Clinical Pharmacology, Medical University of Silesia, Katowice, Poland. r.krysiak@interia.pl

ABSTRACT
Wilson's disease is a rare genetic disorder of copper metabolism. The difference in copper tissue accumulation is responsible for the various clinical manifestations of this disorder. If left untreated, Wilson's disease progresses to hepatic failure, severe neurological disability, and even death. Due to the complex clinical picture of Wilson's disease, its diagnosis relies on a high index of suspicion. In our paper, we present endocrine symptoms suggesting the presence of insulinoma and hyperprolactinemia as the initial clinical manifestation of Wilson's disease in a young female. Zinc acetate treatment resulted in the disappearance of hypoglycemia, galactorrhea, and menstrual abnormalities.

Show MeSH
Related in: MedlinePlus