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

Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations

The aim of the study was to redefine the phenotype of Allan–Herndon–Dudley syndrome (AHDS), which is caused by mutations in the SLC16A2 gene that encodes the brain transporter of thyroid hormones. Clinical phenotypes, brain imaging, thyroid hormone profiles, and genetic data were compared to the existing literature. Twenty-four males aged 11 months to 29 years had a mutation in SLC16A2, including 12 novel mutations and five previously described mutations. Sixteen patients presented with profound developmental delay, three had severe intellectual disability with poor language and walking with an aid, four had moderate intellectual disability with language and walking abilities, and one had mild intellectual disability with hypotonia. Overall, eight had learned to walk, all had hypotonia, 17 had spasticity, 18 had dystonia, 12 had choreoathetosis, 19 had hypomyelination, and 10 had brain atrophy. Kyphoscoliosis (n=12), seizures (n=7), and pneumopathies (n=5) were the most severe complications. This study extends the phenotypic spectrum of AHDS to a mild intellectual disability with hypotonia. Developmental delay, hypotonia, hypomyelination, and thyroid hormone profile help to diagnose patients. Clinical course depends on initial severity, with stable acquisition after infancy; this may be adversely affected by neuro-orthopaedic, pulmonary, and epileptic complications. What this paper adds: Mild intellectual disability is associated with SLC16A2 mutations. A thyroid hormone profile with a free T3/T4 ratio higher than 0.75 can help diagnose patients. Patients with SLC16A2 mutations present a broad spectrum of neurological phenotypes that are also observed in other hypomyelinating disorders. Axial hypotonia is a consistent feature of Allan–Herndon–Dudley syndrome and leads to specific complications

Evaluation of the relationship between the topographical anatomy in the axillary region of the brachial plexus and the body mass index

WOS: 000439345200023PubMed ID: 28871408To investigate the topographic anatomy of the median, musculocutaneous, radial and ulnar nerves with respect to the axillary artery and to seek whether these configurations are associated with baseline descriptive data including age, gender, and body-mass index. This cross-sectional trial was carried out on 199 patients (85 women, 114 men; average age: 46.78 +/- 15.45 years) in the department of anaesthesiology and reanimation of a tertiary care center. Topographic anatomy of the median, musculocutaneous, radial and ulnar nerves was assessed with ultrasonography. Localization of these nerves with respect to the axillary artery was marked on the map demonstrating 16 zones around the axillary artery. Frequencies of localizations of every nerve in these zones were recorded, and the correlation of these locations with descriptive data including age, gender and BMI was investigated. There was no difference between women and men for the distribution of the median (p = 0.74), ulnar (p = 0.35) and radial (p = 0.64) nerves. However, the musculocutaneous nerve was more commonly located in Zone A13 in men compared to women (p = 0.02). The localization of the median (p = 0.85), ulnar (p = 0.27) and radial (p = 0.88) nerves did not differ remarkably between patients with BMI < 25 kg/m(2) and patients with BMI 25 kg/m(2). Notably, the musculocutaneous nerve was more often determined in Zone A10 in cases with BMI 25 kg/m(2) (p = 0.001). Our results imply that the alignment of the musculocutaneous nerve may vary in men and overweight people. This fact must be considered by the anaesthetist before planning the axillary block of brachial plexus. All these informations may enlighten the planning stages of the brachial plexus blockade