scholarly journals Prolong psychosis preceding cognitive and motor symptoms; an unusual presentation in Huntington's disease

BJPsych Open ◽  
2021 ◽  
Vol 7 (S1) ◽  
pp. S117-S117
Author(s):  
Nida Khan ◽  
Marium Mansoor
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Clinical Presentation ◽  
Treatment Guidelines ◽  
Response To Treatment ◽  
Personal Hygiene ◽  
Psychotic Symptoms ◽  
History Of ◽  
Atypical Presentations ◽  
Diagnostic Delays

ObjectiveTo describe an unusual clinical presentation of Huntington's disease.Case reportA 39-years-old married female, a homemaker, presented to the psychiatry clinic with her husband, with over a nine-year history of decreased sleep, suspiciousness, self-talking, agitation, anger outbursts, aggression, and social isolation. The patient was diagnosed with schizophrenia. Previously, she received various antipsychotics and Electroconvulsive therapy (ECT). The patient showed a partial response to treatment. Over the last 2-3 years, the patient had a progressive decline and later required supervision in her Activities of Daily Living (ADLs). She developed slurred speech limited to 1-2 worded answers, gait disturbance, falls, involuntary movements of the trunk and distal extremities, bowel and bladder incontinence, and severe weight loss. The patient's mother and older brother had a history of death in their early 40s due to an unknown cause.At presentation, the patient was restless, irritable, self-talking incoherently, neither made nor maintained eye contact and tried hitting and biting upon approaching closely. She did not respond to any queries or followed commands. The patient showed poor personal hygiene. On examination, the patient was hemodynamically stable, had a loss of muscle bulk, broad-based gait, and choreiform movements of the trunk and distal extremities. We admitted the patient to the psychiatry ward and also consulted the neurology team. Her blood investigations showed ASMA antibodies positive, MRI brain was suggestive of Huntington's disease (HD), and her genetic test for Huntington gene confirmed the diagnosis of HD. We started the patient on Fluoxetine, Clonazepam, and Olanzapine. The patient showed a decrease in agitation, and her self-talking stopped.DiscussionHD is a rare genetic disease that has well-characterized symptoms. However, as seen in our patient, these symptoms can evolve and progress unusually in the early and middle stages. Psychosis in HD patients is rare but known. Psychosis is rare in HD and usually presents after a clear clinical picture of HD is apparent. Our case discussed psychotic symptoms in the pre-choreic stage of HD which adds to the existing evidence on challenging presentations and management of HD. Further research can help increase confidence in these outcomes and treatment guidelines.ConclusionOur case highlights an unusual clinical presentation of HD, which can be challenging and lead to diagnostic delays. We recommend a thorough approach to history and revision of diagnosis in case of atypical presentations.

Efficacy of local treatments in Prurigo Pigmentosa after Bariatric surgery

2021 ◽  
Vol 07 (02) ◽  
pp. 01-03
Author(s):  
Mezoun Almuhaimeed
Keyword(s):  
Bariatric Surgery ◽  
Clinical Presentation ◽  
Response To Treatment ◽  
Single Female ◽  
Provisional Diagnosis ◽  
Patient Response ◽  
Medical City ◽  
History Of ◽  
Multivitamin Supplements

A 22-year-old single female presented to primary care Wazarat Health Center at Prince Sultan Military Medical City in Riyadh, with a 3 weeks history of itchy erythematous papules and vesicles and papulo-vesicles over the neck, chest, and upper back and face, which started 4 to 5 days after bariatric surgery. The patient on daily multivitamin supplements, vitamin D (50,000 IU, weekly / 2 months). The patient has lost 4kg since the operation, family history of atopy was positive regarding the mother physical examination shows erythematous papules and vesicles and papulo-vesicles over the neck with crust, chest, and upper back, Based on medical history and clinical presentation a provisional diagnosis was Prurigo Pigmentosa. The patient was prescribed topical mometasone furoate cream (BID for one week). Two -week follow-up showed improvement of the eruption. The course of the disease was shorter than usual in such cases the patient response to treatment was reactive to the topical mometasone without taking the oral minocyline, which major of such cases need in the late course of the disease The patient starts to improve within 2 weeks compared to others who need an average of 6 weeks to improve in such cases

“organic Personality Disorder” as Part of Early Neuropsychiatric Manifestations in Huntington’s Disease - a Case Report

2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1
Author(s):  
J. Maia
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Psychiatric Symptoms ◽  
Age Of Onset ◽  
Neuropsychiatric Symptoms ◽  
Personality Change ◽  
Psychotic Symptoms ◽  
Autosomal Dominant Disorder ◽  
Neuropsychiatric Manifestations ◽  
Psychiatric Manifestations

Huntington's Disease (HD) is an inherited autosomal dominant disorder characterized by motor, cognitive and psychiatric symptomatology, being considered a paradigmatic neuropsychiatric disorder that includes all three components of the "Triadic Syndromes": dyskinesia, dementia and depression.Firstly described in 1872 as an "Hereditary Chorea" by George Huntington only in 1993 was its responsible gene identified. A person who inherits the HD gene will sooner or later develop the disease. the age of onset, early signs and rate of disease progression vary greatly from person to person.Neuropsychiatric symptoms are an integral part of HD and have been considered the earliest markers of the disease, presenting sometimes more than 10 years before a formal diagnosis is done. Patients may experience dysphoria, mood swings, agitation, irritability, hostile outbursts, psychotic symptoms and deep bouts of depression with suicidal ideation. Personality change is reported in 48% of the cases, with the paranoid subtype being described as the most prevalent. the clinical case presented illustrates a case of HD which started with insidious psychiatric symptoms and an important personality change.Despite a wide number of medications being prescribed to help control emotional, movement and behaviour problems, there is still no treatment to stop or reverse the course of the disease. Furthermore, psychiatric manifestations are often amenable to treatment, and relief of these symptoms may provide significant improvement in patient's and caregivers quality of life.A greater awarness of psychiatric manifestations of HD is essential to an earlier diagnosis and an optimized therapeutic approach.

Huntington’s disease-like 2: a phenocopy not to miss

2020 ◽  
Vol 20 (6) ◽  
pp. 479-481
Author(s):  
Daniel Sabino De Oliveira ◽  
Daniela Pereira Santos ◽  
Daniel Oliveira Araujo ◽  
Pedro José Tomaselli ◽  
WIlson Marques Júnior ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Genetic Counselling ◽  
Neurological Examination ◽  
Clinical Management ◽  
African Ancestry ◽  
Epileptic Seizures ◽  
Correct Identification ◽  
History Of ◽  
Slow Saccades

A 67-year-old Brazilian man of African ancestry and his 60-year-old sister both presented with choreiform movements, although in the man these were significantly overshadowed by additional parkinsonism. The man also had a history of four epileptic seizures. Neurological examination in each also found slow saccades and a dysexecutive syndrome. Genetic tests for Huntington’s disease were negative but were positive for Huntington’s disease-like 2. There are various genetic causes of chorea diseases, and their correct identification is important for appropriate clinical management and genetic counselling.

scholarly journals Predictors of Survival in a Huntington's Disease Population from Southern Italy

2012 ◽  
Vol 39 (1) ◽  
pp. 48-51 ◽  
Author(s):  
Carlo Rinaldi ◽  
Elena Salvatore ◽  
Ilaria Giordano ◽  
Sara De Matteis ◽  
Tecla Tucci ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Southern Italy ◽  
Cox Regression ◽  
Age Of Onset ◽  
Survival Rates ◽  
Cox Regression Analysis ◽  
Therapeutic Trials ◽  
Expanded Allele ◽  
History Of

Background:The primary aim of the present study was to determine the survival rates and identify predictors of disease duration in a cohort of Huntington's disease (HD) patients from Southern Italy.Methods:All medical records of HD patients followed between 1977 and 2008 at the Department of Neurological Sciences of Federico II University in Naples were retrospectively reviewed and 135 patients were enrolled in the analysis. At the time of data collection, 41 patients were deceased (19 males and 22 females) with a mean ± SD age at death of 56.6 ± 14.9 years (range 18-83).Results:The median survival time was 20 years (95% CI: 18.3-21.7). Cox regression analysis showed that the number of CAG in the expanded allele (HR 1.09 for 1 point triplet increase, p=0.002) and age of onset (HR 1.05 for 1 point year increase, p=0.022) were independent and significant predictors of lower survival rates.Conclusions:We believe that these findings are important for a better understanding of the natural history of the disease and may be relevant in designing future therapeutic trials.

Drug-Resistant Myoclonic Epilepsy Revealing Juvenile Huntington's Disease: A Case Report

2018 ◽  
Vol 07 (01) ◽  
pp. 021-023
Author(s):  
Fatma Feki ◽  
Chahnez Triki ◽  
Nesrine Amara
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Clinical History ◽  
Myoclonic Epilepsy ◽  
Drug Resistant ◽  
Dna Testing ◽  
History Of ◽  
Progressive Myoclonic Epilepsy ◽  
Juvenile Huntington’S Disease ◽  
Patients Experience

AbstractJuvenile Huntington's disease (JHD) shares many general clinical features with the adult form. One important difference is that JHD patients experience more epileptic manifestations, sometimes difficult to control. We describe an atypical clinical picture of a genetically confirmed JHD patient diagnosed during evaluation for a progressive myoclonic epilepsy. A female patient with a family history of psychiatric disorders developed recurrent drug-resistant myoclonic seizures at the age of 6 years, followed by extrapyramidal symptoms (rigidity and dystonia). Cognitive impairment, akinetic rigidity syndrome, and dystonia were noticed at the age of 10 years. Epileptiform abnormalities were noted in ictal electroencephalography. Magnetic resonance imaging showed brain atrophy. Genetic testing for HD confirmed the diagnosis. JHD can initially manifest as myoclonic epilepsy. A DNA testing should be performed if clinical history is suggestive.

scholarly journals Large Animal Models of Huntington’s Disease: What We Have Learned and Where We Need to Go Next

2020 ◽  
Vol 9 (3) ◽  
pp. 201-216
Author(s):  
David Howland ◽  
Zdenka Ellederova ◽  
Neil Aronin ◽  
Deborah Fernau ◽  
Jill Gallagher ◽  
...  
Keyword(s):  
Animal Models ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Single Species ◽  
Research Community ◽  
Response To Treatment ◽  
Large Animal ◽  
Rodent Models ◽  
Large Animal Models ◽  
Translational Studies

Genetically modified rodent models of Huntington’s disease (HD) have been especially valuable to our understanding of HD pathology and the mechanisms by which the mutant HTT gene alters physiology. However, due to inherent differences in genetics, neuroanatomy, neurocircuitry and neurophysiology, animal models do not always faithfully or fully recapitulate human disease features or adequately predict a clinical response to treatment. Therefore, conducting translational studies of candidate HD therapeutics only in a single species (i.e. mouse disease models) may not be sufficient. Large animal models of HD have been shown to be valuable to the HD research community and the expectation is that the need for translational studies that span rodent and large animal models will grow. Here, we review the large animal models of HD that have been created to date, with specific commentary on differences between the models, the strengths and disadvantages of each, and how we can advance useful models to study disease pathophysiology, biomarker development and evaluation of promising therapeutics.

scholarly journals Westphal Variant of Huntington's Disease

2017 ◽  
Vol 17 (01) ◽  
pp. 028-030
Author(s):  
L. Cabarcas-Castro ◽  
J. Ramón-Gómez ◽  
A. Zarante-Bahamón ◽  
O. Bernal-Pacheco ◽  
E. Espinosa-García ◽  
...  
Keyword(s):  
Family History ◽  
Huntington's Disease ◽  
Movement Disorder ◽  
Huntington’S Disease ◽  
Neurodegenerative Disorder ◽  
Cag Repeats ◽  
Molecular Evidence ◽  
Exon 1 ◽  
History Of

AbstractA Westphal variant of Huntington's disease (HD) is an infrequent presentation of this inherited neurodegenerative disorder. Here, we describe a 14-year-old girl who developed symptoms at the age of 7, with molecular evidence of abnormally expanded Cytosine-Adenine-Guanine (CAG) repeats in exon 1 of the Huntingtin gene. We briefly review the classical features of this variant highlighting the importance of suspecting HD in a child with parkinsonism and a family history of movement disorder or dementia.

scholarly journals A Case of McLeod Phenotype of Neuroacanthocytosis Brain MR Features and Literature Review

2013 ◽  
Vol 26 (1) ◽  
pp. 21-26 ◽  
Author(s):  
J.R. Shah ◽  
D.P. Patkar ◽  
R.N. Kamat
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Serum Lipoprotein ◽  
Normal Serum ◽  
Neurological Involvement ◽  
Mri Features ◽  
Serum Creatine Phosphokinase ◽  
Serological Studies ◽  
History Of ◽  
Antigen Activity

Huntington's disease and neuroacanthocytosis may present similar clinical and MRI features. It is important to differentiate these findings since treatment and prognosis vary vastly between them. The aim of this article is to familiarize radiologists with the differentiating features of Huntington's disease and various diseases comprising neuroacanthocytosis. A 40-year-old Indian man with extrapyramidal symptoms was referred for MRI. The clinical diagnosis was Huntington's disease, but there were a few atypical clinical features such as a history of biting the tongue, tics, marked hyporeflexia and lower limb muscle wasting. MR showed atrophy of the caudate nucleus and putamen with iron deposition in the basal ganglia, which can be seen in Huntington's disease and in neuroacanthocytosis. An increased blood acanthocyte level was subsequently confirmed. Further work-up revealed increased serum creatine phosphokinase levels, normal serum lipoprotein levels and depressed K cell antigen activity on serological studies, confirming the diagnosis of McLeod syndrome. McLeod syndrome is one of the distinct phenotypes of neuroacanthocytosis. Neuroacanthocytosis is a group of disorders with increased serum acanthocyte counts and neurological involvement. Various causes of neuroacanthocytosis are discussed. It is important to consider the possibility of neuroacanthocytosis when features typical of Huntington's disease are encountered on imaging.

scholarly journals A Case Report of Non-Reactive Psychosis in a COVID-19 Patient

2021 ◽  
Vol 7 (1&2) ◽  
pp. 11-13
Author(s):  
Manjulika Debnath ◽  
Keyword(s):  
Family History ◽  
Clinical Presentation ◽  
Psychiatric Symptoms ◽  
Past History ◽  
Psychotic Symptoms ◽  
Antigen Test ◽  
First Onset ◽  
History Of ◽  
Coronavirus Infection ◽  
Anxiety Depression

Background: COVID-19 causes reactive psychiatric symptoms like anxiety, depression, insomnia etc besides significant inflammatory response. A number of COVID-19 patients are found to present with complex neuropsychiatric syndromes, including the first onset of psychosis, that seem to be directly related to brain damage in the context of COVID-19. Most cases of psychotic disorder in COVID-19 patients are being found in individuals with no personal or family history of mental illness. Case Description: A 33-year-old man presented with acute restlessness, agitation, wandering, vandalizing things, suspiciousness, hallucinatory behaviour, decreased sleep for 3 days duration. There was no past history or family history of any psychiatric illness. There was a history of mild grade fever 7 days before the onset of the psychotic symptoms. The patient was uncooperative, irritable, and had hallucinatory behaviour. Rapid Antigen Test (RAT) was positive. The patient responded to injectable antipsychotic haloperidol which was later changed to Tab Olanzepine 5 mg. The patient developed no COVID symptoms and no psychotic symptoms were seen further. Conclusion: There is a possibility of a psychosis break as a COVID-19 clinical presentation, suggesting potential participation of inflammatory and autoimmunologic phenomena triggered as a response to the coronavirus infection.

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