musculoskeletal abnormalities/seizures

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Parry Romberg syndrome associated with chronic facial pain.

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Parry Romberg Syndrome (PRS) is a rare condition of unknown cause and pathophysiology. It is characterized by progressive facial hemiatrophy, and neurological abnormalities are found in 20% of cases. We describe a 50-year-old woman with PRS and severe neurological involvement (lateralised epileptic

Angelman syndrome: A review highlighting musculoskeletal and anatomical aberrations.

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Angelman's syndrome (AS) is a genetic neurodevelopment disorder. The cause is a known abnormality involving the maternal inherited ubiquitin-protein ligase (UBE3A) gene. Clinical characteristics universal to the disorder are well documented in the literature and include developmental delay,

Epilepsy in mucopolysaccharidosis disorders.

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The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes involved in the catabolism of glycosaminoglycans (GAGs). The resulting GAG accumulation in cells and tissues throughout the body leads to progressive multi-organ dysfunction. MPS patients present with

Mimics of childhood stroke: characteristics of a prospective cohort.

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BACKGROUND Little is known about the clinical features and spectrum of diagnoses in children with "stroke mimics," those with acute neurologic deficits but without cerebrovascular diseases. OBJECTIVE Our goal was to describe patients with stroke mimics and to determine if clinical features predict

Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome.

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Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In

Further delineation of the behavioral and neurologic features in Costello syndrome.

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To describe clinical and neurodevelopmental phenotypes of Costello syndrome, we performed a retrospective review of the clinical records and findings in 10 children with Costello syndrome. All patients showed significant postnatal growth retardation and severe feeding difficulties leading to failure

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