Open Access Case Study

Sub-acute Posterior Reversible Encephalopathy Associated with Extrapyramidal Signs Induced by Primary Hyperparathyroidism: A Case Report and a Revision of Literature

L. Giani, C. Lovati, C. Bana, I. Cova, F. De Angeli, C. Mariotti, D’Alessandro ., C. Mariani

International Neuropsychiatric Disease Journal, Page 13-20
DOI: 10.9734/INDJ/2014/6366

Aims: We present the case of a subacute psycho-motor deterioration in the context of a hypercalcemic state due to primary hyperparathyroidism inducing a posterior reversible encephalopathy.

Presentation of Case: a 78 year-old man, affected by parkinsonism, developed a subacute psycho-motor deterioration in the course of a month and presented to our attention with generalized seizures. Biochemical analysis revealed hypercalcemia due to primary hyperparathyroidism. After the surgical removal of a hyperfunctioning parathyroid gland, we assisted to a dramatic improvement. Alongside with characteristic MRI findings, the picture was compatible with a posterior reversible encephalopathy syndrome (PRES).

Discussion: To date, this is the third reported case of PRES caused by primary hyperparathyroidism. Our case appears peculiar because of the subacute onset of the syndrome, and of the accompanying progressive worsening of a pre-existing extrapyramidal syndrome. Also, the specific setting of radiologic findings and hormonal anomalies points to a prominent role of endothelial dysfunction in the still debated pathogenesis of PRES.

Conclusion: Our case presents a rare combination of hyperparathyroidism, PRES and parkinsonism. We propose that the Blood-Brain barrier plays a central role in this setting.


Open Access Case Study

Novel GLRB Gene Mutation in a Saudi Baby with Hyperekplexia

Tamer Mohamed Rizk, Adel Ahmed Hassan Mahmoud

International Neuropsychiatric Disease Journal, Page 21-27
DOI: 10.9734/INDJ/2014/5368

Aim: We aim to describe a case of hyperekplexia in a Saudi neonate due to Novel mutation in GLRB.

Case Presentation: One month old Saudi neonate with hypertonicity, repetitive episodes of jitteriness and exaggerated startle reflex.

Discussion: Hyperekplexia (OMIM:149400, 138492 & 604159) is considered a rare, autosomal dominant neurological disorder that presents early in life with hypertonicity,  exaggerated startle response and life threatening neonatal apnea. It has been caused by mutation in the alpha-1subunit (GLRA1) on chromosome 5q32, Beta subunit (GLRB) gene on chromosome 4q31 of the inhibitory glycine receptor and GLYT2 gene (SLC6A5) on chromosome 11p15 which encodes a presynaptic glycine transporter.

Conclusion: Raising awareness of the presence of this treatable disease may prevent unnecessary exposure to anti-epileptic medications, prevent life threatening apneas and improve long term outcome.


Open Access Case Study

Spontaneous Enlargement then Regression of a Colloid Cyst of the III Ventricle

Gillian Duncan, Avinash Kumar Kanodia, Sam El Jamel

International Neuropsychiatric Disease Journal, Page 28-33
DOI: 10.9734/INDJ/2014/7342

Aim: We describe a case of a 22 year old pregnant female patient who was found to have a small colloid cyst that increased spontaneously, followed by spontaneous significant reduction in size.

Presentation of Case: The patient’s colloid cyst was picked up incidentally in late pregnancy at 39 weeks. It showed spontaneous increase in size accompanied by deterioration of symptoms at 31 months post diagnosis and then showed significant spontaneous reduction in size at 38 months post diagnosis.

Discussion and Conclusion: Spontaneous reduction of a colloid cyst of third ventricle is a very rarely described phenomenon. To our knowledge this is one of only 3 cases of spontaneous regression of an III ventricular colloid cyst. It may be reasonable to follow up cases, where there is a documented history of increase.


Open Access Review Article

Roles of PI3K/AKT/PTEN Pathway in the Pathogenesis of Parkinson’s Disease and the Neuropsychiatric Symptoms

Yasuko Kitagishi, Yoko Wada, Satoru Matsuda

International Neuropsychiatric Disease Journal, Page 1-12
DOI: 10.9734/INDJ/2014/5691

Parkinson's disease is a neurodegenerative disorder associated with loss of dopaminergic neurons in substantianigra caused by severe neuro-degeneration, which is the second most common neurodegenerative disorder after Alzheimer’s disease.Parkinson's disease has a high prevalence of psychiatric comorbidity including depression. The neuropsychiatric symptoms are common in Parkinson's disease and may precede onset of motor symptoms. Increasing interest is often addressed to the selective targeting of some of metabotropic glutamate receptors that inhibit the transmitter release at synapses in the basal ganglia. The metabotropic glutamate receptors may be coupled to the phosphatidylinositol-3-kinase (PI3K), AKT, and PTEN pathways, whichplay a central role in cell survival. A better understanding of the molecular connections in the PI3K pathways could uncover new targets for drug development in Parkinson's disease.