Wilson Disease: A Case Report of Psychosis Preceding Parkinsonism.

BACKGROUND A first psychotic episode requires the exclusion of toxic-metabolic, inflammatory, infective, and neoplastic causes. Wilson disease is a rare, autosomal recessive disorder of copper metabolism and can present with neuropsychiatric symptoms secondary to copper accumulation in the brain. CASE REPORT We describe the case of a 48-year-old man with parkinsonism on a background of longstanding schizophrenia and psychotic depression in the setting of previously undiagnosed Wilson disease. The common history of neuropsychiatric disturbance and neuroleptic use complicated the assessment of parkinsonism. However, close attention to the temporal appearance of symptoms and signs differentiated his case from drug-induced parkinsonism, which commonly develops hours to weeks after commencement or uptitration of antipsychotic medication. The early features of sialorrhea and dysarthria were also atypical for idiopathic Parkinson disease. The diagnosis was confirmed by serum copper testing and supported by Kayser-Fleischer rings on bedside ophthalmological examination. Magnetic resonance imaging (MRI) of the brain demonstrated copper accumulation in the basal ganglia and pons, contributing to the characteristic neurological manifestations of an akinetic-rigid syndrome with dysarthria. CONCLUSIONS Serum copper testing is easily obtained and should be considered as part of the first-line investigations for new neuropsychiatric disturbances. Although rare, Wilson disease, if diagnosed early, is a potentially treatable and reversible cause of psychosis. With advanced disease, extrapyramidal findings on examination correlate with MRI brain changes, aiding the clinical assessment in differentiating the disease from drug-induced parkinsonism.

Mitochondrial DNA 13513G>A Mutation Causing Leber Hereditary Optic Neuropathy Associated With Adult-Onset Renal Failure.

BACKGROUND: Leber hereditary optic neuropathy (LHON) is one of the more common mitochondrial diseases and is rarely associated with mitochondrial renal disease. We report 3 unrelated patients with a background of adult-onset renal failure who presented to us with LHON and were shown to have a heteroplasmic mitochondrial DNA mutation (m.13513G>A). METHODS: Retrospective chart review. RESULTS: All 3 patients had a background of chronic renal failure and presented to us with bilateral optic neuropathy (sequential in 2) and were found to have heteroplasmic m.13513G>A mutations in the MT-ND5 gene. Two of the patients were females (aged 30 and 45 years) with chronic kidney disease from their 20s, attributed to pre-eclampsia, one of whom also had diabetes and sudden bilateral hearing loss. One patient was a male (aged 54 years) with chronic kidney disease from his 20s attributed to IgA nephropathy. His mother had diabetes and apparently sudden bilateral blindness in her 70s. Renal biopsy findings were variable and included interstitial fibrosis, acute tubular necrosis, focal segmental glomerulosclerosis, and IgA/C3 tubular casts on immunofluorescence. Mild improvements in vision followed treatment with either idebenone or a combination supplement including coenzyme Q10, alpha-lipoic acid, and B vitamins. CONCLUSIONS: Our cases expand the clinical syndromes associated with m.13513G>A to include bilateral optic neuropathy and adult-onset renal disease. This highlights that in patients with bilateral, especially sequential, optic neuropathy a broad approach to mitochondrial testing is more useful than a limited LHON panel. Mitochondrial diseases present a diagnostic challenge because of their clinical and genetic variability.

Subjective visual horizontal correlates better with ocular than with cervical vestibular evoked myogenic potentials.

OBJECTIVE: To examine the relationship between widely used otolith function tests: the Subjective Visual Horizontal (SVH) and Vestibular Evoked Myogenic Potentials (VEMP). METHODS: A retrospective analysis was performed on 301 patients who underwent SVH, ocular and cervical VEMP (oVEMP and cVEMP) tests on the same day. Correlations between the mean SVH tilt and amplitude asymmetry ratios for bone-conducted (BC) oVEMP and air-conducted (AC) cVEMP were examined. Diagnoses included vestibular neuritis, stroke, vestibular migraine, Meniere's disease, sudden sensorineural hearing loss (SSNHL) and vestibular schwannoma. RESULTS: SVH results were concordant with the oVEMP in 64% of cases and the cVEMP in 51%. Across all patients, SVH demonstrated a significant moderate correlation with BC oVEMP amplitude asymmetry ratios (r = 0.55, p < 0.001) and a weak correlation with AC cVEMP amplitude asymmetry ratios (r = 0.35, p < 0.001). A stronger correlation between SVH and oVEMPs was observed in patients with vestibular neuritis (r = 0.67, p < 0.001) and SSNHL (r = 0.76, p = 0.001). CONCLUSIONS: SVH correlates better with oVEMP than cVEMP symmetry. SIGNIFICANCE: This finding reinforces the hypothesis of a common utricular origin for both SVH and oVEMPs which is distinct from the saccular origin of cVEMPs.

Optic nerve sheath fenestration for treating papilloedema in the era of cerebral venous sinus stenting.

BACKGROUND: Pseudotumour cerebri (PTC) is the syndrome of intracranial hypertension without intracranial mass or hydrocephalus and is the commonest cause of papilloedema seen in many eye clinics. In the last 10 years, we have increasingly used TSS in patients whose papilloedema was not well controlled with medical treatment and have done fewer ONSFs. Here, we review our experience at Royal Prince Alfred Hospital Sydney with ONSF in 35 patients over the period 2002-2021. METHODS: Retrospective case series of 35 patients, 30 of whom had primary PTC [i.e., idiopathic intracranial hypertension (IIH)] and 5 with secondary PTC. RESULTS: Eighteen patients had bilateral ONSF and 17 patients unilateral ONSF, in each case of the worse eye. Thirteen patients then underwent transverse sinus stenting (TSS), in each case following ONSF. The primary outcome measures were visual acuity (VA) and mean deviation (MD) on visual field (VF) testing. MD improved by 5 dB or more in 34 of 70 total eyes (48.6%); VA improved by 0.2 logMAR (two lines on Snellen chart) or more in 21 eyes (30%), and by both in 15 eyes (21.4%). Final MD was -10 dB or better in 38 eyes (54.3%); final VA was 0.3 (6/12) or better in 54 eyes (77.1%), and both in 39 eyes (55.7%). CONCLUSIONS: The results confirm that ONSF can relieve papilloedoema in both eyes and improve both VF and VA, even in cases of fulminant PTC with severe acute visual impairment.

Truncal sensory polyneuropathy in light-chain amyloidosis.

We describe a case of truncal sensory polyneuropathy in a patient with light-chain amyloidosis. We highlight the clinical signs and differential diagnoses related to the presentation.

Acute psychiatric illness in a young woman: an unusual form of encephalitis.

A 21-year-old woman was admitted to hospital with a diagnosis of acute psychotic mania, but developed, over approximately 6 weeks, seizures, delirium, catatonia, movement disorder and autonomic dysfunction. She was found to have antibodies to N-methyl-D-aspartate (NMDA) NR1-NR2 receptors in both serum and cerebrospinal fluid, consistent with anti-NMDA-receptor encephalitis, a severe, potentially lethal but treatment-responsive encephalitis often associated with ovarian tumour. With aggressive immunotherapy and bilateral oophorectomy, she recovered over a period of 14 months from her initial presentation. No ovarian tumour was identified.