Neuropsychiatric aspects of the adult variant of Tay-Sachs disease.

J Neuropsychiatry Clin Neurosci. 1998 Winter;10(1):10-9.  MacQueen GM, Rosebush PI, Mazurek MF.

Source Department of Psychiatry, McMaster University Medical Centre, Hamilton, Ontario, Canada.

Abstract:  Tay-Sachs disease (a GM2 gangliosidosis) is an inherited neuronal storage disease that can affect individuals across the age spectrum.

Psychosis is reported in 30% to 50% of adult-onset patients, and many are misdiagnosed with schizophrenia.

Mood disorders are present in more than 25% and cognitive impairment in more than 20%.

Treatment of psychosis with neuroleptics may not have a favorable risk/benefit ratio, but treatment with benzodiazepines or electroconvulsive therapy may be efficacious.

Metabolic diseases such as gangliosidosis are probably under-recognized as causes of neuropsychiatric illness.

Increased awareness of these disorders will lead to accurate diagnosis, appropriate treatment selection, and genetic counseling. PMID: 9547461 [PubMed – indexed for MEDLINE]


Kleine-Levin syndrome misdiagnosed as schizophrenia

Eur Psychiatry. 1996;11(2):104-5.


A 27 year-old man initially considered as a schizophrenic patient was later diagnosed as having Kleine-Levin syndrome.

[PubMed – in process]

What is Kleine-Levin Syndrome?

Kleine-Levin syndrome is a rare disorder that primarily affects adolescent males (approximately 70 percent of those with Kleine-Levin syndrome are male). It is characterized by recurring but reversible periods of excessive sleep (up to 20 hours per day). Symptoms occur as “episodes,” typically lasting a few days to a few weeks. Episode onset is often abrupt, and may be associated with flu-like symptoms. Excessive food intake, irritability, childishness, disorientation, hallucinations, and an abnormally uninhibited sex drive may be observed during episodes. Mood can be depressed as a consequence, but not a cause, of the disorder. Affected individuals are completely normal between episodes, although they may not be able to remember afterwards everything that happened during the episode. It may be weeks or more before symptoms reappear. Symptoms may be related to malfunction of the hypothalamus and thalamus, parts of the brain that govern appetite and sleep. CLICK HERE FOR MORE INFORMATION


Misdiagnosis of epileptic seizures as manifestations of psychiatric illnesses.

Can J Neurol Sci. 2011 May;38(3):487-93.

Mirsattari SM, Gofton TE, Chong DJ. SourceDepartment of Clinical Neurological Sciences, The University of Western Ontario, London, Ontario, Canada Department of Medical Biophysics, The University of Western Ontario, London, Ontario, Canada Department of Medical Imaging, The University of Western Ontario, London, Ontario, Canada Department of Psychology, The University of Western Ontario, London, Ontario, Canada.

Abstract Background: Epileptic seizures may be misdiagnosed if they manifest as psychiatric symptoms or seizures occur in patients with known psychiatric illness. Methods: We present clinical profiles of six patients with epilepsy (three male, mean age 39 ± 12 years) that presented with prominent psychiatric symptoms. Results: Two patients had pre-existing psychiatric illnesses.

Three patients were initially diagnosed with panic attacks, two with psychosis, and one with schizophrenia. Five patients had temporal lobe epilepsy (TLE) while the sixth patient was subsequently found to have absence status epilepticus (SE). Cranial computed tomogram (CT) including contrast study was unremarkable in five patients and showed post-traumatic changes in one patient. Cranial magnetic resonance imaging (MRI) revealed dysembryoplastic neuroepithelial tumour (DNET) in one patient, cavernous hemangioma in one, and post-traumatic changes plus bilateral mesial temporal sclerosis in another patient but it was normal in two TLE patients.

Routine electroencephalography (EEG) revealed absence SE in one patient but it was non-diagnostic in the TLE patients. Video-EEG telemetry in the epilepsy monitoring unit (EMU) was necessary to establish the diagnosis in four TLE patients. None of the patients responded to medications aimed at treating psychiatric symptoms alone. Two patients required surgery while the other four required treatment with anti-epileptic drugs. All the patients had favorable response to the treatment of their epilepsy.

Conclusions: This case series illustrates that epileptic patients may experience non-convulsive seizures that might be mistaken as primary psychiatric illnesses. In this subset of patients, evaluation by an epileptologist, MRI of the brain, and/or video-EEG telemetry in an EMU was necessary to confirm the diagnosis of epilepsy if routine EEGs and cranial CT are normal. PMID: 21515510 [PubMed – in process]


Expert Opin Investig Drugs. 2007 Oct;16(10):1627-38.
Omega-3 fatty acid eicosapentaenoic acid. A new treatment for psychiatric and neurodegenerative diseases: a review of clinical investigations.
University of Prince Edward Island, Department of Biomedical Sciences, AVC, 550 University Avenue, Charlottetown, PE, Canada.
Decreased n-3 fatty acid levels have been reported in patients with depression, schizophrenia or Alzheimer’s disease. Recently, eicosapentaenoic acid (EPA) has been used to treat several psychiatric and neurodegenerative diseases due to its anti-inflammatory and neuroprotective effects. A total of six out of seven clinical trials have shown that EPA significantly improved depressive symptoms when compared with the placebo-treated populations. Several investigations have also reported that EPA could effectively treat schizophrenia. A case report and a clinical trial have shown that EPA was beneficial for the management of most symptoms of Huntington’s disease, while a more extensive clinical investigation has demonstrated that EPA could only improve motor functions. Further clinical studies are required to fully explore the effects of EPA on other neurodegenerative diseases. The limitations of previous studies and further research directions have also been discussed.
PMID: 17922626 [PubMed – indexed for MEDLINE]


Encephale. 2003 Nov-Dec;29(6):560-5.

[Psychiatric manifestations of vitamin B12 deficiency: a case report]

[Article in French]

Durand C, Mary S, Brazo P, Dollfus S.

Centre Esquirol, Service du Professeur S. Dollfus, CHU de Caen, avenue Côte-de-Nacre, 14033 Caen.

Psychiatric manifestations are frequently associated with pernicious anemia including depression, mania, psychosis, dementia. We report a case of a patient with vitamin B12 deficiency, who has presented severe depression with delusion and Capgras’ syndrome, delusion with lability of mood and hypomania successively, during a period of two Months.

Case report – Mme V., a 64-Year-old woman, was admitted to the hospital because of confusion. She had no history of psychiatric problems. She had history of diabetes, hypertension and femoral prosthesis. The red blood count revealed a normocytosis with anemia (hemoglobin=11,4 g/dl). At admission she was uncooperative, disoriented in time and presented memory and attention impairment and sleep disorders. She seemed sad and older than her real age. Facial expression and spontaneous movements were reduced, her speech and movements were very slow. She had depressed mood, guilt complex, incurability and devaluation impressions. She had a Capgras’ syndrome and delusion of persecution.


Psychosomatics. 2005 May-Jun;46(3):259-61.

Acute mania in the setting of severe hypothyroidism.

Stowell CP, Barnhill JW.

Department of Psychiatry, New York-Presbyterian Hospital, Weill-Cornell Medical Center, 525 East 68th St., New York, NY 10021, USA.

Although the associations between depression and hypothyroidism and between mania and hyperthyroidism are well described, mania in the setting of hypothyroidism is unusual. The authors present the case of a patient whose acute mania appears to have been precipitated by hypothyroidism secondary to postpartum thyroiditis. This case underscores the importance of thyroid screening in patients with mood and psychotic disorders, including patients who lack the classical psychiatric features of thyroid dysfunction. Further investigation is required on the nature of the relationship between thyroid function and bipolar disorder and any implications it may have for the diagnosis and treatment of this illness.
PMID: 15883148 [PubMed – indexed for MEDLINE]

Neuropsychiatric manifestations of Lyme disease.

J Am Osteopath Assoc. 1998 Jul;98(7):373-8.

Paparone PW.

Lyme Disease Center for South Jersey, Absecon, NJ 08201, USA.

Lyme disease is a multisystem illness that may affect the central nervous system and subsequently produce mild to severe psychiatric disorders. Physicians who treat patient with Lyme disease need to be aware of its neuropsychiatric symptoms, which may emerge months to years after the initial infection. Prompt diagnosis and effective treatment are needed to avoid the debilitating and possibly irreversible mental illness associated with the neurologic involvement of this spirochetal infection. The author reviews the neuropsychiatric manifestations of Lyme disease and provides diagnostic and therapeutic approaches for the management of the central nervous system disease that may cause them.
PMID: 9695456 [PubMed – indexed for MEDLINE]

Are some cases of psychosis caused by microbial agents? A review of the evidence.

Mol Psychiatry. 2008 May;13(5):470-9. Epub 2008 Feb 12.

Are some cases of psychosis caused by microbial agents? A review of the evidence.



The Stanley Laboratory of Developmental Neurovirology, Department of Pediatrics, Johns Hopkins University Medical Center, Baltimore, MD 21287-4933, USA.


The infectious theory of psychosis, prominent early in the twentieth century, has recently received renewed scientific support. Evidence has accumulated that schizophrenia and bipolar disorder are complex diseases in which many predisposing genes interact with one or more environmental agents to cause symptoms. The protozoan Toxoplasma gondii and cytomegalovirus are discussed as examples of infectious agents that have been linked to schizophrenia and in which genes and infectious agents interact. Such infections may occur early in life and are thus consistent with neurodevelopmental as well as genetic theories of psychosis. The outstanding questions regarding infectious theories concern timing and causality. Attempts are underway to address the former by examining sera of individuals prior to the onset of illness and to address the latter by using antiinfective medications to treat individuals with psychosis.
The identification of infectious agents associated with the etiopathogenesis of schizophrenia might lead to new methods for the diagnosis, treatment and prevention of this disorder.


PMID: 18268502 [PubMed – indexed for MEDLINE]

Mood and anxiety disorders in women with treated hyperthyroidism and ophthalmopathy caused by Graves’ disease.

Gen Hosp Psychiatry. 2005 Mar-Apr;27(2):133-9.

Mood and anxiety disorders in women with treated hyperthyroidism and ophthalmopathy caused by Graves’ disease.

Bunevicius R, Velickiene D, Prange AJ Jr.

Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7160, USA.

OBJECTIVE: To evaluate the prevalence of mood and anxiety disorders in women with treated hyperthyroidism caused by Graves’ disease and to compare them with the prevalence of such findings in women without past or present thyroid disease.
METHODS: Thirty inpatient women with treated hyperthyroidism and ophthalmopathy caused by Graves’ disease and 45 women hospitalized for treatment of gynecologic disorders such as abnormal vaginal bleeding, benign tumors or infertility were evaluated for the prevalence of mood and anxiety diagnoses using a standard Mini-International Neuropsychiatric Interview and for mood and anxiety ratings using the Profile of Mood States (POMS). At the time of assessment, it was discovered that 14 of 30 women with treated hyperthyroidism caused by Graves’ disease were still hyperthyroid, while 16 women were euthyroid.
RESULTS: Significantly greater prevalence of social anxiety disorder, generalized anxiety disorder, major depression and total mood and anxiety disorders, as well as higher symptom scores on the POMS, was found in hyperthyroid women with Graves’ disease in comparison with the control group. A prevalence of total anxiety disorder, as well as history of mania or hypomania and lifetime bipolar disorder, but not lifetime unipolar depression, was more frequent in both the euthyroid and the hyperthyroid subgroups of study women in comparison with the control group.
CONCLUSIONS: These results confirm a high prevalence of mood and anxiety disorders in women with treated hyperthyroidism and ophthalmopathy caused by Graves’ disease. Hyperthyroidism plays a major role in psychiatric morbidity in Graves’ disease.
PMID: 15763125 [PubMed – indexed for MEDLINE]

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