Sporadic Stiffman syndrome in a young girl

Vrajesh P. Udani, Vikas R. Dharnidharka, Ajit R. Gajendragadkar, Soonu V. Udani

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

A 14-month-old girl had experienced sudden episodes of breath-holding and spasms of the trunk and limb muscles, leading to cyanosis and loss of consciousness since 3 months of age. Her clinical features and electromyography suggested Stiffman syndrome, and her response to high-dose diazepam and baclofen confirmed the diagnosis. Stiffman syndrome is a rare entity, rarer still in childhood. This is the youngest case of sporadic Stiffman syndrome reported in literature. Distinguishing Stiffman syndrome from similar conditions such as Schwartz-Jampel syndrome or neuromyotonia is important because administration of GABAergic agents (valproate, baclofen, diazepam) elicits a good response.

Original languageEnglish
Pages (from-to)58-60
Number of pages3
JournalPediatric Neurology
Volume17
Issue number1
DOIs
StatePublished - Jul 1 1997
Externally publishedYes

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