title: Sporadic Stiffman syndrome in a young girl.
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.
authors.affiliation: Department of Child Neurology, P D Hinduja National Hospital & Medical Research Centre, Veer Savarkar Marg, Mahim, Mumbai, India.
authors.forename: V P
authors.initials: VP
authors.lastname: Udani
authors.forename: V R
authors.initials: VR
authors.lastname: Dharnidharka
authors.forename: A R
authors.initials: AR
authors.lastname: Gajendragadkar
authors.forename: S V
authors.initials: SV
authors.lastname: Udani
mesh_terms: D001418:Baclofen / Q000008:administration & dosage; D003937:Diagnosis, Differential; D003975:Diazepam / Q000008:administration & dosage; D004359:Drug Therapy, Combination; D005260:Female; D018755:GABA Agonists / Q000008:administration & dosage; D018757:GABA Modulators / Q000008:administration & dosage; D006801:Humans; D007223:Infant; D016750:Stiff-Person Syndrome / Q000175:diagnosis* / Q000188:drug therapy
chemical_list: D018755:GABA Agonists; D018757:GABA Modulators; D001418:Baclofen; D003975:Diazepam