Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene.

Objectives: To describe the first American patient with a congenital muscle dystrophy characterized by the presence in muscle of gigantic mitochondria displaced to the periphery of the fibers and to stress the potential origin and effects of the mitochondrial changes.

Design: Case report and documentation of a novel mutation in the gene encoding choline kinase beta (CHKB).

Setting: Collaboration between 2 tertiary care academic institutions.

Lymphocytic hypophysitis in children: a novel presentation and literature review.

Lymphocytic hypophysitis, an autoimmune mediated chronic inflammation of the pituitary gland, is uncommon in children.(1) The usual presentation is with symptoms secondary to pressure from the enlargement of the gland itself and or impairment of pituitary hormones of varying degrees, in conjunction with a sellar mass.( 2,3) In 80% of cases, partial or panhypopituitarism is present with approximately 75% of cases having multiple hormonal deficiencies.

Childhood and teenage stroke.

Objective: The purpose of this manuscript is to review the various etiologies and to discuss the therapeutic issues in childhood stroke.

Methods: A PubMed search of literature pertaining to childhood stroke was conducted from 1983 to 2008 using specific key search words pertinent to cerebrovascular disorders in childhood.

Results: The analysis of the multiple causes of childhood stroke including arterial ischemic strokes and cerebral venous thrombosis was presented.

Acute migraine: Current treatment and emerging therapies.

Migraine is a common disabling primary headache disorder. Despite the need for a perfect treatment of this debilitating condition, the ideal "cure" eludes us. In 1992, the first triptan was released in the US for use in acute migraine.