Pediatric neurology
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Two particularly common, and frequently frightening, forms of syncope and anoxic seizure in early childhood are pallid and cyanotic breath-holding spells. Pallid breath-holding spells result from exuberant vagally-mediated cardiac inhibition. Cyanotic breath-holding spells are of more complex pathogenesis, involving an interplay among hyperventilation, Valsalva maneuver, expiratory apnea, and intrinsic pulmonary mechanisms. ⋯ Spontaneous resolution of breath-holding spell, without sequelae, is anticipated. Reassurance is the mainstay of therapy. Occasionally, pharmacologic intervention may be of benefit.
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Pediatric neurology · Feb 1996
Case ReportsCerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome.
The classic features of Marinesco-Sjögren syndrome include bilateral cataracts, cerebellar ataxia, and mental deficiency with an autosomal recessive inheritance pattern. Weakness and a variety of other characteristics are present inconsistently. ⋯ We report a patient with near normal intelligence, unilateral cataract, and the previously unreported magnetic resonance imaging findings of cerebellar dysplasia, arachnoid cyst, and absent septum pellucidum. A review of the literature suggests significant heterogeneity in the Marinesco-Sjögren syndrome.