Mucolipidosis type IV (MLIV) is a developmental neurodegenerative disorder characterized by severe neurologic and ophthalmologic abnormalities. The MLIV gene, ML4 (MCOLN1), has recently been localized to chromosome 19p13.2-13.3 by genetic linkage. Here we report the cloning of a novel transient receptor potential cation channel gene and show that this gene is mutated in patients with the disord...

Allgrove syndrome, also known as triple A syndrome (OMIM #231550), is a rare autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency, achalasia and alacrima. It is caused by mutations of the AAAS gene, which is located on chromosome 12q13, encoding the WD-repeat protein ALADIN (alacrimaachalasia-adrenal insufficiency neurolog...

Neonatal encephalopathy is a common central nervous system disorder of neonatal foals and human infants, resulting in clinical signs such as lethargy, inappropriate behavior, seizures, and other neurologic deficits. Although neonatal encephalopathy is frequently seen in equine practice, a paucity of veterinary clinical and basic science research data is available. Therefore, the pathophysiologi...

Cerebral palsy (CP) is a “group of disorders of the development of movement and posture, causing activity limitation, that is attributed to non-progressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, cognition, communication, perception, and/or behaviour, and/or by a seizure disorde...

Movement disorders are neurologic disorders characterized by inadequate voluntary movements (hypokinetic) or presence of abnormal involuntary movements (hyperkinetic). Management of either type of movement disorders is mainly outpatient-based . Movement disorder emergencies are conditions evolving over hours to days , in which failure to diagnose and manage promptly can result in significant mo...

Background and Objective: Chronic renal failure (CRF) may have many effects on nervous system and manifest as headache, seizure, dialysis disequilibrium syndrome, cerebral hemorrhage, hypertensive encephalopathy, uremic neuropathy, and some neurologic complications of transplantation. In this present study we investigate neurologic disorders in children with CRF. Methods: In this descriptive...

Heroin inhalation leukoencephalopathy (HIL) is a rare complication of vaporized heroin leading to white matter degeneration resulting in range neurologic disturbances including softened speech, cerebellar ataxia, behavioral changes, gait abnormalities, and even respiratory failure death the most severe cases. Magnetic resonance imaging (MRI) commonly demonstrates bilateral hyperintensities affe...

Hereditary folate malabsorption (HFM, congenital malabsorption; OMIM#229050) is a rare, potentially treatable autosomal recessive disorder with multisystem involvement.1 It caused by homozygous or compound heterozygous mutations in SLC46A1 resulting loss of function proton-coupled transporter (PCFT),2 required for intestinal absorption and transport across choroid plexus.1,2 This leads to the d...

background and importance: perineural cysts, also known as tarlov cysts, are benign cysts of the spinal cord containing a collection of cerebrospinal fluid. they most frequently originate in the sacral spine and can be asymptomatic. case presentation: we presented a 30-year-old woman who was referred to our clinic with an 8-month history of perianal paresthesia, slowly progressive lower back pa...

We report here, a young male patients referred with “Obsessive Compulsive Disorder” symptoms which emerged after the successful treatment of pineal germinoma. OCD (obsessive-compulsive disorder) is a frequent, chronic, and clinically disorder which may presents in several neurologic disorders, especially occurs, in early adult life. Essential features of OCD are obsessional thoughts, compulsive...