rare-diseases

Recently published articles about rare-diseases

PCC
Case Report

January 6, 2022

Dravet syndrome is a rare autosomal recessive genetic epileptic encephalopathy. In this case report, the authors discuss the management of neurodevelopmental and psychiatric symptoms of Dravet syndrome.
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PCC
Case Report

November 18, 2021

A 13-year-old boy is given a tentative diagnosis of Guillain-Barre Syndrome, but could another neurologic disorder be the cause of his symptoms? Read this informative case report to find...
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PCC
Case Report

November 4, 2021

Klinefelter syndrome is the most common sex chromosome disorder in males, typically characterized by an extra X chromosome. The authors of this report present a case of early onset...
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JCP
Cross Talk: Case Conferences From MGH

November 2, 2021

A complex, intriguing case is described and then is discussed by experts representing a variety of perspectives: psychodynamics, family therapy, neurology, and DBT.
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PCC
Case Report

October 14, 2021

Turner syndrome is a genetic syndrome that can present with a plethora of physical and psychiatric manifestations. This report explores the psychiatric manifestations and comorbidities in patients with Turner...
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PCC
Rounds in the General Hospital

October 14, 2021

Have you ever wondered whether, and why, Wernicke’s encephalopathy can develop in someone without an alcohol use disorder? Have you been uncertain about treatment? If you have, then this...
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Recent JCP Articles on rare-diseases

JCP
Original Research

February 23, 2021

Although the tetralogy of Fallot (TOF) may be associated with psychiatric disorders, the risk of this association has not been well documented. This nationwide cohort study investigated the long-term...
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JCP
Original Research

November 17, 2020

Autoimmune encephalitis (AE) is a highly treatable neurologic condition that can cause psychosis. This study estimated the cost-effectiveness of routine screening for AE compared with clinically targeted screening in...
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JCP
Original Research

December 11, 2018

Pediatric acute-onset neuropsychiatric disorder (PANS) is characterized by abrupt onset of obsessive-compulsive disorder and/or food restriction with 2 or more similarly debilitating neuropsychiatric symptoms. Read this article to learn...
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Recent PCC Articles on rare-diseases

PCC
Case Report

September 23, 2021

Psychostimulants are an FDA-approved treatment for ADHD. Secondary Raynaud’s phenomenon is a rare but distressing adverse effect of stimulants. Read this informative case report to find out more.
PCC
Case Report

September 16, 2021

Ekbom syndrome, or delusional parasitosis, is a rare disorder in which patients believe that their body, mainly the skin, is infested by small organisms or bugs. Here, the authors...
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PCC
Case Report

August 26, 2021

This case highlights the unspecific presentation of Marchiafava-Bignami disease, its challenging diagnosis, and how a high-dose course of parenteral thiamine might be required to achieve clinical improvement.
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Featured rare-diseases Research

PCC
Case Report

August 5, 2021

Huntington’s disease is a progressive neurodegenerative disorder inheritable in an autosomal dominant fashion. Although not very common, psychosis can potentially precede the motor manifestation of the disease. Read this...
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PCC
Case Report

July 15, 2021

Shared delusional disorder is a rare condition wherein a similar delusion system is shared by 2 or more patients in a close and often long-term relationship. Here, read about...
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PCC
Case Report

June 10, 2021

A patient presents with blurry vision for the past 6 months, decreased near vision in the left eye, and unilateral headaches. What should be in the list of differential...
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Celebrating
85 Years

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