Mandeep Rana

University of California, Irvine | UCI · CHOC Neuroscience Institute

Lesch–Nyhan syndrome is an x‐linked genetic disorder of purine metabolism that results in the overproduction of uric acid and neurologic deficits manifesting as intellectual disability, dystonia, other movement disorders and self‐mutilation. We describe a 12‐year‐old patient with a history of Lesch–Nyhan syndrome, G6PD deficiency and central diabet...

We reported a case of acute disseminated encephalomyelitis (ADEM) in a 12-year-old girl shortly after developing fever and vomiting, and ultimately found to have Campylobacter jejuni by antigen detection and conventional stool culture. Campylobacter jejuni has been associated with peripheral demyelinating diseases including Guillain–Barre's syndrom...

Traumatic brain injury (TBI) is common in children. The evaluation and management of children with TBI is based on the research performed in adults. There is a relative paucity of research in the literature involving children and many of the practice recommendations for this age are based on expert opinion in the absence of good research studies in...

Objective: To summarize causes, evaluation methods, and treatment of sleep disturbance in children and adolescents with autism spectrum disorder (ASD). Methods: A narrative literature and synthesis approach was used. Results/discussion: Sleep disturbances in this population are common and include insomnia, parasomnias, circadian rhythm disorde...

Visits to the family physician, a specialist, and the ED prompted us to look beyond the initial diagnosis of acute otitis media.

Continuous positive airway pressure (CPAP) is considered first-line treatment in the management of pediatric patients without a surgically correctible cause of obstruction who have confirmed moderate-to-severe obstructive sleep apnea (OSA). The evidence supports its reduction on patient morbidity and positive influence on neurobehavioral outcome. U...

Febrile infection-related epilepsy syndrome (FIRES) is a subset or variant of new-onset refractory status epilepticus in children. FIRES is characterized by the occurrence of a febrile episode between 24 hours and 2 weeks before the onset of refractory status epilepticus. A infectious cause is rarely identified in FIRES and an inflammatory or autoi...

Sleep is an active and cyclic physiological process that has a critical impact on health. Its functions are numerous: growth, development, learning, memory, synaptic efficiency, regulation of behavior, emotion, immune strengthening and cleaning time of neurotoxic substances. During the first years of life, there are a number of important changes in...

We describe an 11.5-year-old male who has profound intellectual disability, treatment resistant epilepsy with temperature sensitive seizures, and paroxysms of autonomic storming, atypical brain magnetic resonance imaging, and microcephaly. He has a 5.7 Mb deletion at 2q24.3-31.1, which includes the SCN1A gene. This is the first report of periodic a...

To investigate the common indications for polysomnogram (PSG) associated co-morbid conditions, evaluation strategies, treatment options, and outcomes in a series of infants diagnosed with obstructive sleep apnea (OSA) by a PSG. Retrospective chart review of infants who underwent PSG over a 7-year period was done. Infants with PSG diagnosed OSA were...