Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes.

BACKGROUND: Isodicentric 15 syndrome (IDIC-15) is due to partial duplications of chromosome 15 that may includes the q11-13 region that includes genes encoding the α5 (GABRA5) and ß3 - γ3 (GABRB3) receptor subunits. The disease causes intellectual and physical developmental delay, seizures, intellectual disability and behavioral disorders that may be related to abnormal GABA receptor function and morphology. Seizures are often severe and may be refractory to treatment. There are however no specific guidelines for the treatment of the seizures and it is unknown whether drugs that affect the GABAergic system have a different effect in IDIC-15 seizures. CASE PRESENTATION: We report the case of an adult individual with IDIC-15 whose complex-partial seizures worsened dramatically after the introduction of pregabalin, with increased seizure frequency, frequent generalization, and appearance of new seizure pattern. Her cognitive function and verbal skills also worsened during treatment with pregabalin. Her seizures and cognitive skills quickly improved after pregabalin was discontinued and treatment with lacosamide started. DISCUSSION: As her genetic testing confirmed that her region of duplication included GABA receptor encoding genes, it is plausible that the worsening of seizures were due to induction of an abnormal GABAergic response to pregabalin. CONCLUSION: As her genetic testing confirmed that her region of duplication included GABA receptor encoding genes, it is plausible that the worsening of seizures were due to induction of an abnormal GABAergic response to pregabalin.This case may help define proper therapeutic strategies for the treatment of IDIC-15 associated seizures.

Multidisciplinary intensive rehabilitation treatment improves sleep quality in Parkinson's disease.

BACKGROUND: Sleep disturbances are among the most common non-motor symptoms of Parkinson's disease (PD), greatly interfering with daily activities and diminishing life quality. Pharmacological treatments have not been satisfactory because of side effects and interactions with anti-parkinsonian drugs. While studies have shown that regular exercise improves sleep quality in normal aging, there is no definitive evidence in PD. METHODS: In a retrospective study, we determined whether an intense physical and multidisciplinary exercise program improves sleep quality in a large group of patients with PD. We analyzed the scores of PD Sleep Scale (PDSS), which was administered twice, 28 days apart, to two groups of patients with PD of comparable age, gender, disease duration and pharmacological treatment. The control group (49 patients) did not receive rehabilitation, The treated group (89 patients) underwent a 28-day multidisciplinary intensive rehabilitation program (three one-hour daily sessions comprising cardiovascular warm-up, relaxation, muscle-stretching, balance and gait training, occupational therapy to improve daily living activities). RESULTS: At enrolment, control and treated groups had similar UPDRS and PDSS scores. At re-test, 28 days later, UPDRS and total PDSS scores improved in the treated (p < 0.0001) but not in the control group. In particular, the treated group showed significant improvement in PDSS scores for sleep quality, motor symptoms and daytime somnolence. The control group did not show improvement for any item. CONCLUSIONS: These results suggest that multidisciplinary intensive rehabilitation treatment may have a positive impact on many aspects of sleep in PD.

Severe Dysphagia after botulinum toxin B injection to the lower limbs and lumbar paraspinal muscles.

We report a case of severe dysphagia in a 29-yr-old woman with cerebral palsy after she was injected with botulinum toxin B to her lower limbs and lumbar paraspinal muscles. Four days after the treatment, she developed difficulty swallowing, more severe for solid foods than for liquids, accompanied by dry mouth, blurred vision, and voice hoarseness. Fifteen days after the injection, with worsening of her dysphagia, she was hospitalized. A laryngoscopic evaluation revealed bilateral vocal cord paresis, and a modified barium swallow test demonstrated delayed oral initiation, upper airway penetration, and no reflexive cough. In the following days, she improved spontaneously and was discharged 12 days later when she re-acquired the ability to swallow solid foods. Her symptoms resolved completely only 75 days after the injection. Although dysphagia is a common side effect of botulinum injection in the neck, to our knowledge, this is the first reported case of severe dysphagia after injection in a distant anatomic site.