Case report of anorexia nervosa associated with Wilson's disease

Gwirtsman, Harry E.; Prager, Jordan M.; Henkin, Robert I.

doi:10.1002/1098-108x(199303)13:2<241::aid-eat2260130213>3.0.co;2-y

Cited by 14 publications

(8 citation statements)

References 16 publications

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“…In fact the first behavioral and cognitive symptoms, as well as the mild cerebral atrophy seen on the first neuroimages, could be attributable to the prolonged anorexia, and we might expect them to be reversible if anorexia were successfully resolved and normal weight recovered. [1][2][3][4][5][6] Laboratory workup ruled out other causes sometimes associated with anorexia nervosa, such as Lyme disease, 7,8 HIV infection, 9,10 Wilson's disease, 11 or tumors in the hypothalamic-hypophyseal region. 12 The progressive clinical picture developed after the age of 30 comprises outstanding early behavioral symptoms as well as attention, memory, lenguage, praxis, executive, and movement disorder.…”

Section: Discussionmentioning

confidence: 99%

Clinical Picture of a Patient With a Novel PSEN1 Mutation (L424V)

Robles

Sobrido

García-Murias

et al. 2008

Am J Alzheimers Dis Other Demen

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Young onset dementia raises concern about familial and non degenerative dementias. We describe a patient with early dementia. At the age of 26, a woman developed symptoms of anorexia nervosa, at 30 a memory and attention deficit, and at 34 abnormal behavior with impulsivity, aggression, and dysexecutive disorder. At 36 she showed aphasia, stereotyped behavior, hyperreflexia, grasping reflex, urinary incontinence, myoclonus, and seizures. Blood and cerebrospinal fluid were normal. Brain computed tomography and single photon emission computed tomography showed diffuse cortico-subcortical atrophy and frontotemporoparietal hypoperfusion. A Leu424Val mutation was present in PSEN1 gene. PSEN1 mutations can produce Alzheimer's disease, frontotemporal dementia, and dementia with Lewy bodies phenotypes, or a combination of them. It has been proposed that the mutation type and location may influence the molecular pathogenesis and thus PSEN1 would represent a molecular connexion between these entities. This case shows a novel PSEN1 mutation with outstanding amnesic and frontal symptoms.

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Section: Discussionmentioning

confidence: 99%

Clinical Picture of a Patient With a Novel PSEN1 Mutation (L424V)

Robles

Sobrido

García-Murias

et al. 2008

Am J Alzheimers Dis Other Demen

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“…Behavioural and personality disorders also belong to frequent psychiatric disturbances of WD, the most common manifestations being irritability, aggression, and antisocial behaviour 138 . A few other psychiatric conditions such as catatonia, anorexia nervosa, bulimia, obsessive-compulsive disorder and attention-deficit hyperactivity disorder have also been reported in WD 139,140 . In most described cases, psychiatric manifestations lead to a delay in WD diagnosis.…”

Section: Diagnosis Screening and Preventionmentioning

confidence: 99%

Wilson disease

Członkowska

Litwin

Dušek

et al. 2018

Nat Rev Dis Primers

621

586

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Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that is characterized by the pathological accumulation of copper. WD is caused by mutations in ATP7B, which encodes a transmembrane copper-transporting ATPase, leading to impaired copper homeostasis and copper overload in the liver, brain and other organs. The clinical course of WD can vary in the type and severity of symptoms, but progressive liver disease is a common feature. Patients can also present with neurological disorders and psychiatric symptoms. WD is diagnosed using diagnostic algorithms that incorporate clinical symptoms and signs, measures of copper metabolism and DNA analysis of ATP7B. Available treatments include chelation therapy and zinc salts, which reverse copper overload by different mechanisms. Additionally, liver transplantation is indicated in selected cases. New agents, such as tetrathiomolybdate salts, are currently being investigated in clinical trials, and genetic therapies are being tested in animal models. With early diagnosis and treatment, the prognosis is good; however, an important issue is diagnosing patients before the onset of serious symptoms. Advances in screening for WD may therefore bring earlier diagnosis and improvements for patients with WD.

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“… 1 , 12 Clinical symptoms are often nonspecific, causing difficulties in diagnosis, including misdiagnoses (isolated obsessive-compulsive disorder or anorexia nervosa, for example). 28 , 29 It is common to observe classic psychiatric syndromes in later early adulthood, including behavioral and personality changes, 30 anxiety, depression, 31 manic and hypomanic syndrome, 10 , 32 – 34 cognitive deficits, 35 – 39 sleep problems (dyssomnias) 30 , 40 and sexual dysfunctions including excessive sexual drive. 41 Some patients also have substance abuse problems, 42 , 43 and the presence of a harmful use or dependence syndrome could further complicate the clinical presentation and lead to a delay in the diagnosis of WD.…”

Section: Psychiatric Symptoms Of Wdmentioning

confidence: 99%

“…A few other psychiatric conditions including catatonia, anorexia nervosa, bulimia, obsessive-compulsive disorder and ADHD have also been reported in WD. 28 , 29 , 70 , 71 In most described cases, psychiatric manifestations lead to a delay in WD diagnosis. However, an improvement was typically observed after the correct diagnosis of WD, anti-copper treatment introduction and psychiatric treatment (lorazepam followed by ECT in catatonia; SSRI with behavioral therapy in obsessive-compulsive disorder).…”

Section: Psychiatric Symptoms Of Wdmentioning

confidence: 99%

Psychiatric manifestations in Wilson’s disease: possibilities and difficulties for treatment

Litwin

Dušek

Szafrański³

et al. 2018

Therapeutic Advances in Psychopharmacology

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Wilson’s disease (WD) is an inherited metabolic disorder related to disturbances of copper metabolism, and predominantly presents with liver and neuropsychiatric symptoms. In most cases it can be successfully treated with anti-copper agents, and both liver function and neuropsychiatric symptoms typically improve. Treatment guidelines for WD include recommendations for anti-copper treatment as well as for the treatment of liver failure symptoms. Recently, recommendations for treatment of the neurological symptoms of WD have also been proposed. Although most WD patients present with psychiatric symptoms at some stage of the disease, currently there are no guidelines for the treatment of the psychiatric manifestations. Treatment of the psychiatric symptoms of WD is often guided by general psychiatric experience, which typically glosses over the specificity of WD, and can result in severe neurological and/or hepatic complications. Here we review and discuss the possible treatments available for the mood disturbances, psychosis, behavioral and cognitive disorders that can occur in WD, as well as their efficacy.

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Case report of anorexia nervosa associated with Wilson's disease

Cited by 14 publications

References 16 publications

Clinical Picture of a Patient With a Novel PSEN1 Mutation (L424V)

Clinical Picture of a Patient With a Novel PSEN1 Mutation (L424V)

Wilson disease

Psychiatric manifestations in Wilson’s disease: possibilities and difficulties for treatment

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