Pediatric Wilson disease with early psychiatric manifestations: a case report

Wilson's disease is an autosomal recessive disorder of copper metabolism that primarily affects the liver and brain, with onset typically in early adulthood. Pediatric presentations are rare, and the atypical presentation of psychiatric symptoms can delay the diagnosis process in low-resource settings. Epidemiological data on the disease, particularly in Syria, remain scarce. Early diagnosis is necessary to prevent irreversible hepatic and neurologic damage.

An eight-year-old Syrian child presented with psychiatric and neurologic symptoms, including increased aggressiveness, learning difficulties, dysarthria, drooling while eating and drinking, and difficulty speaking, followed by weight loss and jaundice. A dental examination revealed no temporomandibular joint deformities, prompting neurological consultation. The neurological examination revealed difficulty walking with limb tremors and speech impairment. Laboratory findings showed slightly elevated transaminases and total iron-binding capacity with low serum iron, indicating hepatic dysfunction. Serum ceruloplasmin was markedly reduced (3.1 mg/dl), and 24-h urinary copper excretion was elevated. MRI of the brain revealed increased T2-weighted signal intensity in the caudate and lentiform nuclei. An ophthalmologic exam found Kayser-Fleischer rings at the corneal limbus. Esophagogastroduodenoscopy showed distal esophageal varices, and an abdominal ultrasound showed hepatomegaly and splenomegaly. The patient was treated with copper chelator penicillamine, dietary copper restriction, and physical therapy. Follow-up showed marked clinical improvement with recovery of motor function, improved speech, and resolution of jaundice.

This instance underscores the necessity of evaluating Wilson's illness in pediatric patients exhibiting early behavioral and neurological signs, particularly emphasizing that prominent psychiatric manifestations may precede hepatic signs even in young children. Early administration of chelation therapy can lead to excellent outcomes even in resource-limited settings. Atypical presentations require increased awareness that may facilitate earlier detection and the prevention of irreversible organ damage.