A Case Report: Co-Occurrence of Wilson Disease and Lysosomal Storage Disorder Probably Sialidosis in an Iraqi Patient

Rationale: Both Wilson disease (WD) and Sialidosis are rare autosomal recessive disorders that are caused by mutations on chromosome 13 and chromosome 6, respectively. Here, we report on a patient with coexisting WD and LSD possibly Sialidosis. Patient concerns: WD is a disorder of copper metabolism. The main sites of copper accumulation are the liver and the brain, resulting in hepatic symptoms. Sialidosis belongs to a group of diseases known as the lysosomal storage disorders (LSDs). Lysosomes are particles bound in membranes within cells that function as the primary digestive units within cells. Sialidosis is a rare inherited metabolic disorder characterized by a deficiency of the enzyme neuraminidase (sometimes referred to as sialidase). Deficiency of neuraminidase results in the abnormal accumulation of toxic materials in the body. Sialidosis is divided into two types, type I usually becomes apparent during the second decade of life with the development of sudden involuntary muscle contractions (myoclonus), distinctive red spots (cherry-red macules) in the eyes, and sometimes additional neurological findings. Sialidosis type II is usually more severe than type I. Type II often begins during infancy or later during childhood and is characterized by cherry-red macules, mildly coarse facial features, skeletal malformations and mild cognitive impairment. Diagnosis: The diagnosis of WD was confirmed by neurological symptoms, metabolism tests, and MRI scans. Genetic analysis was subsequently conducted, and the results revealed pathogenic mutation (c.302c>A (g.52518281) P.H 1069Q (His.1069 Glu) of the ATP7B gene, confirming the diagnosis of WD. The family history was positive for WD with a 9-year-old younger sister also being diagnosed with it. His parents are negative for both Sialidosis and WD. Interventions: D-penicillamine and Zinc acetate treatment was initiated for long-term control. Outcomes: Normalize liver and spleen, control the copper level to avoid further hepatological,neurological complications. Lessons: In this study, we reported on the first case of a child who simultaneously presented WD and Sialidosis, bringing up the possibility of a presumable link between these 2 rare diseases.