Schatzki's Ring in Angelman Syndrome: A Diagnostic Dilemma in Neurodevelopmentally Disabled Patients

Levodopa responsive Parkinsonism in adults with Angelman Syndrome.

Two intellectually disabled adults with Angelman Syndrome are reported who developed intermittent episodes of a severe resting tremor, cogwheel rigidity and bradykinesia in their late teens. The Parkinsonism was not due to medications and there was a dramatic improvement with levodopa therapy. The association between Angelman Syndrome and Parkinsonism has not previously been described.

Radial Tunnel Syndrome, Diagnostic and Treatment Dilemma

Radial tunnel syndrome is a disease which we should consider it in elbow and forearm pains. It is diagnosed with lateral elbow and dorsal forearm pain may radiate to the wrist and dorsum of the fingers. The disease is more prevalent in women with the age of 30 to 50 years old. It occurs by intermittent compression on the radial nerve from the radial head to the inferior border of the supinator ...

Chronic hypothermia and energy expenditure in a neurodevelopmentally disabled patient: a case study

Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases

Epigenetic abnormalities in 15q11-13 imprinted region and UBE3A mutation are the two major mechanisms for molecularly confirmed Angelman Syndrome. However, there is 10% of clinically diagnosed Angelman Syndrome remaining test negative. With the advancement of genomic technology like array comparative genomic hybridization and next generation sequencing methods, it is found that some patients of...

Atypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation.

Angelman syndrome is a neurogenetic disorder resulting in refractory epilepsy and profound psychomotor retardation in its most prevalent form, caused by deletion of maternal chromosome 15q11-13. We report the case of a 29-year-old, mentally retarded man with unusual electroencephalographic changes during periods of atypical absence status epilepticus, a previously unreported manifestation of th...