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Osteoarticular manifestations as initial symptoms of WD with novel compound heterozygote mutations in the ATP7B gene: a case report

ABSTRACT: Wilson disease (WD) is a rare autosomal recessive disease characterized by hepatic, neurologic and psychiatric, and variable manifestations. Skeletal and articular manifestations are usually overlooked at an early stage in WD patients, which have an effect on therapeutic outcome and prognosis. We report a 13-year-old girl of Chinese Han ethnicity with arthralgia and fracture as initial symptoms of WD. Laboratory tests showed her 1:80 of antinuclear antibodies (ANA). The patient was diagnosed with oligoarticular juvenile idiopathic arthritis (JIA) and treated with 10 mg of methotrexate (MTX) every week and diclofenac sodium every day. Her symptoms showed no improvement over 6 months and her medications were ceased. Then the patient presented to our department with a 3-week history dysarthria, gait abnormalities, dystonia and tremor. Kayser-Fleischer rings, serum ceruloplasmin and liver biopsy confirmed the diagnosis of WD. Genetic analysis was performed using SureSelect Clinical Research Exome v2 and then verified by bi-directional Sanger sequencing. We found that the patient carried a novel compound heterozygous mutation in ATPase copper transporting beta (ATP7B) on both chromosomes, which consist of a heterozygote of NM_000053.3 (ATP7B): c.3884C>T p. Ala1295Val and large fragment heterozygous deletion in exons 10–11 of ATP7B gene identified using multiplex ligation-dependent probe amplification (MLPA), to be inherited from her asymptomatic parents, respectively. The patient’s symptoms were relieved at the 1-year follow-up after treatment with D-penicillamine and oral zinc. This case highlights that WD should be taken into consideration in adolescents with unexplained joint pain, arthritis, and fracture of the large joints.

SUBMITTER: Li J

PROVIDER: S-EPMC8107867 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BackgroundDue to the variety of clinical presentation, some tumors may be concealed and easily misdiagnosed, leading to delays in management. We report a series of patients who initially presented to an Ophthalmic Clinic with ocular symptoms and were subsequently diagnosed with extraocular tumors.MethodsPatients who presented to the ophthalmic outpatient clinic at the Joint Shantou International Eye Center with ocular symptoms between April 2013 and December 2019 and were subsequently diagnosed with intracranial or systemic tumors were reviewed retrospectively. Clinical data, including ocular symptoms and signs, ophthalmic and systemic imaging examinations, and the results of tumor biopsies were collected and analyzed.ResultsTwenty-three patients were included in this study, of which 16 were female (69.6%) and 7 were male (30.4%). Chief complaints at the first visit included visual loss (n=20), proptosis (n=2), and diplopia (n=1). Ocular examination revealed disc pallor (n=8) and swelling (n=3), choroidal mass with or without chorioretinal detachment (n=5), and proptosis (n=2). Visual field (VF) examination was performed in 11 patients of which hemianopia (n=4) and non-specific field loss (n=7) were noted. Brain CT or MRI, together with histopathological findings from surgical biopsies confirmed the diagnosis of the intracranial tumors in 18 cases, including pituitary adenoma (n=7), meningioma (n=2), oligodendroglioma (n=1), sellar tumor (n=1), suprachiasmatic arteriovenous aneurysm (n=1), orbital glioma (n=1), multiple intracranial tumors (n=1), and sphenoid ossifying fibroma (n=1). Nasopharyngeal carcinoma (NPC) (n=3) was diagnosed with brain MRI and nasal endoscopy. Five patients were confirmed as choroidal metastasis secondary to lung cancer (n=3), hepatoma (n=1), and breast cancer (n=1).ConclusionsPatients with extraocular tumors may present initially to an ophthalmologist with ocular symptoms. It is important to identify and appropriately manage these patients to avoid unnecessary delays in future treatment.

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Osteoarticular manifestations as initial symptoms of WD with novel compound heterozygote mutations in the ATP7B gene: a case report

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