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Sporadic Stiffman syndrome in a young girl
V P Udani1, V R Dharnidharka, A R Gajendragadkar
1Department of Child Neurology, P D Hinduja National Hospital & Medical Research Centre, Veer Savarkar Marg, Mahim, Mumbai, India.
Insights
This report details the youngest known case of sporadic Stiffman syndrome in a 14-month-old girl. Prompt diagnosis and treatment with GABAergic agents like diazepam and baclofen were crucial for managing her symptoms.
Area of Science:
- Neurology
- Pediatrics
Background:
- Stiffman syndrome is a rare autoimmune disorder characterized by muscle stiffness and spasms.
- Early-onset Stiffman syndrome is exceptionally rare, presenting diagnostic challenges.
Observation:
- A 14-month-old female infant presented with recurrent breath-holding, cyanosis, and loss of consciousness since 3 months of age.
- Clinical examination and electromyography findings were suggestive of Stiffman syndrome.
- The patient exhibited a significant positive response to high-dose diazepam and baclofen therapy.
Findings:
- The patient represents the youngest reported case of sporadic Stiffman syndrome.
- The successful treatment with GABAergic agents confirmed the diagnosis.
Implications:
- This case highlights the importance of considering Stiffman syndrome in infants with unexplained muscle spasms and neurological episodes.
- Distinguishing Stiffman syndrome from similar conditions like Schwartz-Jampel syndrome and neuromyotonia is critical for appropriate management.
- GABAergic agents are effective in managing Stiffman syndrome, emphasizing the role of GABAergic pathways in the condition.
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.