Sporadic Stiffman syndrome in a young girl.
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.
Udani
V P
VP
Department of Child Neurology, P D Hinduja National Hospital & Medical Research Centre, Veer Savarkar Marg, Mahim, Mumbai, India.
Dharnidharka
V R
VR
Gajendragadkar
A R
AR
Udani
S V
SV
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
D018755:GABA Agonists; D018757:GABA Modulators; D001418:Baclofen; D003975:Diazepam