Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.

BACKGROUND AND OBJECTIVES: MCT8 deficiency is a rare genetic leukoencephalopathy caused by a defect of thyroid hormone transport across cell membranes, particularly through blood brain barrier and into neural cells. It is characterized by a complex neurological presentation, signs of peripheral thyrotoxicosis and cerebral hypothyroidism. Movement disorders (MDs) have been frequently mentioned in this condition, but not systematically studied. METHODS: Each patient recruited was video-recorded during a routine outpatient visit according to a predefined protocol. The presence and the type of MDs were evaluated. The type of MD was blindly scored by two child neurologists experts in inherited white matter diseases and in MD. Dystonia was scored according to Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). When more than one MD was present, the predominant one was scored. RESULTS: 27 patients were included through a multicenter collaboration. In many cases we saw a combination of different MDs. Hypokinesia was present in 25/27 patients and was the predominant MD in 19. It was often associated with hypomimia and global hypotonia. Dystonia was observed in 25/27 patients, however, in a minority of cases (5) it was deemed the predominant MD. In eleven patients, exaggerated startle reactions and/or other paroxysmal non-epileptic events were observed. CONCLUSION: MDs are frequent clinical features of MCT8 deficiency, possibly related to the important role of thyroid hormones in brain development and functioning of normal dopaminergic circuits of the basal ganglia. Dystonia is common, but usually mild to moderate in severity, while hypokinesia was the predominant MD in the majority of patients.

Comparison between an Ascenda and a silicone catheter in intrathecal baclofen therapy in pediatric patients: analysis of complications.

OBJECTIVE In this single-center study the authors investigated the complications occurring before and after the introduction of the new Ascenda intrathecal catheter (Medtronic Inc.) in pediatric patients treated with intrathecal baclofen therapy (ITB) for spasticity and/or dystonia. METHODS This was a retrospective review of 508 children who had received ITB, 416 with silicone catheters in the 13 years between September 1998 and September 2011 and 92 with Ascenda catheters in the 3 years between September 2011 and August 2014. The authors evaluated major complications such as infections, CSF leaks treated, and problems related to the catheter or pump, and they compared the 2 groups of patients who had received either a silicone catheter or an Ascenda catheter implant. RESULTS One hundred twenty patients in the silicone group (29%) and 1 patient in the Ascenda group (1.1%; p < 0.001) had a major complication. In the silicone group 23 patients (5.5%) were affected by CSF leakage and 75 patients (18%) experienced 82 catheter-related events, such as occlusion, dislodgment, disconnection, or breakage, which required catheter replacement. In the Ascenda group, only 1 patient (1.1%) was affected by CSF leakage. CONCLUSIONS To the authors' knowledge, this study is the first in the literature to compare the performance of the new Ascenda catheter, introduced in 2011, with the traditional silicone catheter for intrathecal drug infusion. In their analysis, the authors found that the Ascenda catheter can reduce major complications related to the catheter after ITB pump implantation. Further investigation is necessary to expand on and confirm their results.

Effect of intrathecal baclofen on dystonia in children with cerebral palsy and the use of functional scales.

BACKGROUND: The literature available shows that spasticity in patients with cerebral palsy (CP) is reduced by intrathecal baclofen (ITB) treatment, and various studies suggest that this treatment can also be used in dystonic patients. The aim of the present study was to evaluate dystonia treated with ITB in children with CP. METHODS: Data of 19 patients affected by dystonia as an outcome of infant CP in patients belonging to level V of Gross Motor Function Classification System treated with ITB were collected. The mean age at implant is 8.49 years.The patients are assessed using Barry-Albright Scale and Burke-Fahn-Marsden Scale before treatment and at 3, 6, and 12 months postimplant. RESULTS: The results showed a statistically significant improvement (P < 0.001) in the total scores of the 2 scales after just 3 months of treatment, an improvement that was maintained for the 1-year period of follow-up. The results also revealed a reduction in dystonias, an improvement in posture, and an easing of the task of the caregivers in managing the patient as a result of treatment with ITB. CONCLUSIONS: In patients belonging to level V of Gross Motor Function Classification System and treated with ITB, a decrease in frequency and severity of dystonia is observed. This improvement eases caregiver in patient management. LEVEL OF EVIDENCE: Therapeutic Level IV.