Posterior Interosseous Neuropathy with Peripheral Dystonia: A Case Report.

Background: Posterior interosseous neuropathy is an uncommon cause of peripheral dystonia. Case Report: A 62-year-old man awakened and noticed right finger drop. A neurological examination revealed posterior interosseous neuropathy with dystonia-like finger movements. Abnormal movements were predominantly observed in the right thumb, ring finger, and little finger. Within 2 weeks, the muscle weakness in the right fingers had completely improved. However, a brief abnormal posture of the right thumb was persistent. Discussion: The residual abnormal posture of the right thumb may reflect pre-existing motor control abnormalities, which may have contributed to the onset of posterior interosseous neuropathy-associated peripheral dystonia.

Post-Stroke Impairments of Manual Dexterity and Finger Proprioception: Their Contribution to Upper Limb Activity Capacity.

BACKGROUND: Knowing how impaired manual dexterity and finger proprioception affect upper limb activity capacity is important for delineating targeted post-stroke interventions for upper limb recovery. OBJECTIVES: To investigate whether impaired manual dexterity and finger proprioception explain variance in post-stroke activity capacity, and whether they explain more variance than conventional clinical assessments of upper limb sensorimotor impairments. METHODS: Activity capacity and hand sensorimotor impairments were assessed using clinical measures in N = 42 late subacute/chronic hemiparetic stroke patients. Dexterity was evaluated using the Dextrain Manipulandum to quantify accuracy of visuomotor finger force-tracking (N = 36), timing of rhythmic tapping (N = 36), and finger individuation (N = 24), as well as proprioception (N = 27). Stepwise multivariate and hierarchical linear regression models were used to identify impairments best explaining activity capacity. RESULTS: Dexterity and proprioceptive components significantly increased the variance explained in activity capacity: (i) Box and Block Test was best explained by baseline tonic force during force-tracking and tapping frequency (adjusted R2 = .51); (ii) Motor Activity Log was best explained by success rate in finger individuation (adjusted R2 = .46); (iii) Action Research Arm Test was best explained by release of finger force and proprioceptive measures (improved reaction time related to use of proprioception; adjusted R2 = .52); and (iv) Moberg Pick-Up test was best explained by proprioceptive function (adjusted R2 = .18). Models excluding dexterity and proprioception variables explained up to 19% less variance. CONCLUSIONS: Manual dexterity and finger proprioception explain unique variance in activity capacity not captured by conventional impairment measures and should be assessed when considering the underlying causes of post-stroke activity capacity limitations.URL: https://www.clinicaltrials.gov. Unique identifier: NCT03934073.

Quantitative evaluation of abnormal finger movements in myelopathy hand during the grip and release test using gyro sensors.

Previous studies have reported qualitative characteristics of myelopathy hand, but few studies have reported quantitative kinematic parameters of this condition. Our purpose of this study was to quantitatively evaluate the abnormal finger movements in patients with cervical compressive myelopathy (CCM) (termed myelopathy hand) and to understand the characteristics of myelopathy hand during the grip and release test (GRT) using gyro sensors. Sixty patients with CCM (severe: n = 30; mild-to-moderate: n = 30) and sixty healthy adults (age-matched control: n = 30; young control: n = 30) were included in this study. All participants performed the GRT. The index and little fingers' and the wrist's movements during the GRT were recorded using three gyro sensors. The number of cycles, switching time-delay, time per cycle, and peak angular velocity were calculated and compared between groups. Patients with severe CCM had the lowest number of cycles and longest switching time-delays, followed by patients with mild-to-moderate CCM, the age-matched control group, and the young control group. The time per cycle and the peak angular velocities of fingers in participants with severe CCM were significantly lower than those in participants with mild-to-moderate CCM; however, there were no significant differences between the control groups. The peak angular velocities of fingers were significantly lower during extension motions than during flexion motions in participants with CCM. Participants with CCM have lower peak angular velocities during finger movement. Finger extension also is impaired in participants with CCM. Abnormal finger movements and the severity of myelopathy in participants with CCM can be assessed using gyro sensors.

Never too little: Grip and lift forces following probabilistic weight cues in patients with writer's cramp.

OBJECTIVE: Planning of voluntary object-related movements requires the estimation of the most probable object properties. We investigated how 14 writer's cramp (WC) patients compared to 14 controls use probabilistic weight cues in a serial grip-lift task. METHODS: In every grip-lift trial, an object of either light, medium or heavy weight had to be grasped and lifted after a visual cue gave a probabilistic prediction of the object weights (e.g. 32.5% light, 67.5% medium, 0 % heavy). We determined peak (1) grip force GF, (2) load force LF, (3) grip force rate GFR, (4) load force rate LFR, while we registered brain activity with functional magnetic resonance imaging. RESULTS: In both groups, GFR, LFR and GF increased when a higher probability of heavy weights was announced. When a higher probability of light weights was indicated, controls reduced GFR, LFR and GF, while WC patients did not downscale their forces. There were no inter-group differences in blood oxygenation level dependent activation. CONCLUSIONS: WC patients could not utilize the decision range in motor planning and adjust their force in a probabilistic cued fine motor task. SIGNIFICANCE: The results support the pathophysiological model of a hyperfunctional dopamine dependent direct basal ganglia pathway in WC.

Variation in Surgeon Proficiency Scores and Association With Digit Replantation Outcomes.

Importance: Risk-adjusted variation in surgeon outcomes has been traditionally explained by surgeon volume and hospital infrastructure, yet it is unclear how a surgeon's operative proficiency directly contributes to their patients' outcomes. Objective: To assess the variation of surgeons' operative proficiency and investigate its association with surgical outcomes. Design, Setting, and Participants: This case series was a retrospective analysis of all digit replantations and revascularizations at a single US university medical center between January 2000 and August 2020. Surgeons were assigned a proficiency score based on the expected procedure difficulty and outcomes from a sample of their cases. Surgeon proficiency scores were then used to determine associations with outcomes from subsequent cases. The expected difficulty of each case was calculated using a novel scoring system that applied pooled relative risks from a meta-analysis of risk factors for replantation and revascularization failure. Exposures: Digit replantation and revascularization. Main Outcomes and Measures: Digit survival at 1-month follow up (case success) and number of complications. Results: A total of 145 patients and 226 digits were treated by 11 surgeons with training in hand or microsurgery (mean [SD] age, 41.9 [15.2] years; 204 [90%] men); there were 116 replantations and 110 revascularizations. Surgeon proficiency scores ranged from 1.3 to 5.7, with a mean (SD) of 3.4 (1.4). Case success rates among surgeons varied from 20.0% to 90.5%, with a mean (SD) of 64.9%. Higher proficiency scores were associated with fewer case failures: each point increase was associated with 40% decreased odds of failure (odds ratio, 0.60; 95% CI, 0.38-0.94). Every 3-point increase in proficiency score was associated with 1 less complication (effect estimate, -0.29; 95% CI, -0.56 to 0.02). Surgeon proficiency score had a greater association with case failure than surgeon volume (16.7% vs 12.0%). The final model's association with case failure had an area under the receiver operating characteristics curve of 0.93. Conclusions and Relevance: Operative proficiency varied widely among practicing surgeons and accounted for 17% of estimative ability for success of digit replantation and revascularization. Greater surgeon proficiency was associated with better outcomes, indicating that the value of surgical care may be optimized by improving surgeon proficiency.

State and trait of finger tapping performance in multiple sclerosis.

Finger tapping tests have been shown feasible to assess motor performance in multiple sclerosis (MS) and were observed to be strongly associated with the estimated clinical severity of the disease. Therefore, tapping tests could be an adequate tool to assess disease status in MS. In this study we examined potential influencing factors on a maximum tapping task with the whole upper-limb for 10 s in 40 MS patients using linear mixed effects modelling. Patients were tested in three sessions with two trials per body-side per session over the course of 4-27 days of inpatient rehabilitation. Tested factors were the expanded disability scale (EDSS) score, laterality of MS, age, sex, hand dominance, time of day, session, trial (first or second), time between sessions, and the reported day form. A second model used these factors to examine the self-reported day form of patients. Linear mixed effects modelling indicated the tapping test to have a good inter-trial (proportional variance < 0.01) and inter-session reliability (non-significant; when controlling for time between sessions), an influence of hand-dominance (proportional variance 0.08), to be strongly associated with the EDSS (eta2 = 0.22, interaction with laterality of MS eta2 = 0.12) and to be not associated with the reported day form. The model explained 87% (p < 0.01) of variance in tapping performance. Lastly, we were able to observe a positive effect of neurologic inpatient rehabilitation on task performance obvious from a significant effect of the time between sessions (eta2 = 0.007; longer time spans between sessions were associated with higher increments in performance). Day form was only impacted by EDSS and the time of the day (p < 0.01, R2 = 0.57, eta2TIME = 0.017, eta2EDSS = 01.19). We conclude that the tapping test is a reliable and valid assessment tool for MS.

Lung-to-finger circulation time can be measured stably with high reproducibility by simple breath holding method in cardiac patients.

Lung to finger circulation time (LFCT) has been used to estimate cardiac function. We developed a new LFCT measurement device using a laser sensor at fingertip. We measured LFCT by measuring time from re-breathing after 20 s of breath hold to the nadir of the difference of transmitted red light and infrared light, which corresponds to percutaneous oxygen saturation. Fifty patients with heart failure were enrolled. The intrasubject stability of the measurement was assessed by the intraclass correlation coefficient (ICC). The ICC calculated from 44 cases was 0.85 (95% confidence interval: 0.77-0.91), which means to have "Excellent reliability." By measuring twice, at least one clear LFCT value was obtained in 89.1% of patients and the overall measurability was 95.7%. We conducted all LFCT measurements safely. High ICCs were obtained even after dividing patients according to age, cardiac index (CI); 0.85 and 0.84 (≥ 75 or < 75 years group, respectively), 0.81 and 0.84 (N = 26, ≥ or < 2.2 L/min/M2). These results show that our new method to measure LFCT is highly stable and feasible for any type of heart failure patients.

A Multidisciplinary Approach for Tophi Wounds Caused by Glycogen Storage Disease Type 1a: A Rare Case.

ABSTRACT: Glycogen storage diseases (GSDs) are a group of rare inherited metabolic disorders caused by enzyme deficiencies in glycogen catabolism. The more common type, GSD type Ia, is caused by glucose-6-phosphatase deficiency and often complicated by gout from hyperuricemia. Here, the authors report a rare case of a tophi wound caused by GSD type Ia in a Chinese patient. Difficulties in this case included the control of abnormal blood markers, especially uric acid; removal of tophi deposited in the tissues; restoration of hand function after wound healing; and patient adherence to treatment and follow-up. A multidisciplinary team was set up consisting of experts from the authors' wound care center and the departments of endocrinology, orthopedics, and rehabilitation. The wound healed in 53 days and was followed up for about 7 months. During follow-up, the patient's hand function returned to normal, and no new tophi formed. Because GSDs are a congenital lifelong condition, regular follow-ups are especially important.

Preoperative ultrasonography and magnetic resonance imaging evaluation of the position of the neurovascular bundle for Dupuytren's disease of the fifth digit.

BACKGROUND: Dupuytren's contracture (DC) is a fibrosing disor-der that produces pathological subcutaneous nodules and cords in the normal fascia. The isolated occurrence of Dupuytren's disease of the fifth digit is uncommon. This study is aimed to describe the imaging features of an isolated digital cord of the small finger and its relationship with the neurovascular bundle. METHODS: A total of 13 hands in 13 patients who were clinically diagnosed with an isolated occurrence of Dupuytren's disease of the small finger were included between October 2008 and October 2013. Two independent radiologists used ultrasound and magnetic reso-nance imaging (MRI) to record size, signal or echogenicity, contrast enhancement or hyperemia, calcification, and anatomical features of the cord and its relationship with the neurovascular bundle. RESULTS: We found that ultrasound and MRI were accurate for the detection of the cords and neurovascular bundles in the small finger. The intermodality agreement between MRI and ultrasound was 100% for the detection of 6 spiraling bundles containing 13 isolated cords (46.2%). Among the subjects examined, 100% of the hands had ab-ductor digiti minimi (ADM) area involvement, and the distal insertion of the cord was on the ulnar side of the base of the middle phalanx. On MRI, all of the cords showed predominantly low signal intensity on both T1- and T2-weighted images. On ultrasound, the ulnar cord showed a hyperechoic or isoechoic appearance in 69.3% of hands and a hypoechoic appearance in 30.7% of hands. CONCLUSIONS: The spiraling of the bundle in the isolated occurrence of Dupuytren's disease at the small finger is a frequent occurrence. MRI and ultrasound are good imaging modalities for the evaluation of the relationship between the neurovascular bundle and the isolated cord.

A four-year community hospital experience regarding procedures for the replantation and revascularization of fingers.

OBJECTIVES: This study aims to evaluate the clinical results and experiences in a community hospital regarding procedures for the replantation and revascularization of fingers. PATIENTS AND METHODS: Between June 2015 and December 2019, a total of 58 patients (51 males, 7 females; mean age: 33.4±6.3 years; range, 23 to 46 years) who were followed after total and/or subtotal amputation and replantation were retrospectively analyzed. The patients were evaluated at nine months in terms of cold intolerance, static two-point discrimination, and functional results using the range of motion (ROM) and Quick Disabilities of the Arm, Shoulder and Hand (QuickDASH) questionnaire. RESULTS: The majority of the patients presented with work-related injuries (70%), most commonly by the mechanism of guillotine (64%), and to the dominant hand (76%) and the third finger (36%) most frequently. The overall success rate of digit salvage was 72.9% (n=51). Of 19 digits with unsuccessful surgical outcomes, seven were from total and 12 were from subtotal amputations. In the long-term, cold intolerance was observed in 14 patients (24.1%) according to the cold intolerance severity scale. The mean static two-point discrimination value was 6.0±0.7 mm and the mean QuickDASH score was 22.3±5.0. The mean ROM measured at nine months after surgery in the metacarpophalangeal and interphalangeal joints of the third and fourth digits was significantly lower than that in the others (p<0.05). CONCLUSION: The predictors of survival of a replanted digit indicated in this study can be used as a guide and decision-making aid for any attempts for replantation.

Comparison of four different immobilization methods in the treatment of tendinous mallet finger injury.

BACKGROUND: Although there is consensus that closed tendinous mallet finger injuries should be treated conservatively, the best method of immobilization to be used is not clear and the existing data in the literature are not conclusive. The aim of this study is to compare the results of four different immobilization methods used in the conservative treatment of tendinous mallet finger injury. METHODS: Ninety-six patients with tendinous mallet finger injury were treated with four different immobilization methods (stack orthosis, thermoplastic orthosis, aluminum orthosis, and Kirschner wire [K-wire] immobilization). The patients then were assessed with distal interphalangeal joint extensor lag, total active motion (TAM), grip strength, and Abouna and Brown Criteria. RESULTS: No significant difference was found between four immobilization methods in extensor lag and TAM at the 8th and 12th weeks. According to grip strength assessment, stack orthosis group was found to have significantly better results than the K-wire and aluminum orthosis groups at 12 weeks, while the difference was not significant versus the thermoplastic orthosis group. CONCLUSION: In this first study making multiple comparisons between four immobilization methods used in the treatment of tendinous mallet finger injury, the only significant difference detected between the groups was the superior grip strength with stack orthosis compared with K-wire immobilization and aluminum orthosis.

Validity, reliability, and sensitivity to motor impairment severity of a multi-touch app designed to assess hand mobility, coordination, and function after stroke.

BACKGROUND: The assessment of upper-limb motor impairments after stroke is usually performed using clinical scales and tests, which may lack accuracy and specificity and be biased. Although some instruments exist that are capable of evaluating hand functions and grasping during functional tasks, hand mobility and dexterity are generally either not specifically considered during clinical assessments or these examinations lack accuracy. This study aimed to determine the convergent validity, reliability, and sensitivity to impairment severity after a stroke of a dedicated, multi-touch app, named the Hand Assessment Test. METHODS: The hand mobility, coordination, and function of 88 individuals with stroke were assessed using the app, and their upper-limb functions were assessed using the Fugl-Meyer Assessment for Upper Extremity, the Jebsen-Taylor Hand Function Test, the Box and Block Test, and the Nine Hole Peg Test. Twenty-three participants were further considered to investigate inter- and intra-rater reliability, standard error of measurement, and the minimal detectable change threshold of the app. Finally, participants were categorized according to motor impairment severity and the sensitivity of the app relative to these classifications was investigated. RESULTS: Significant correlations, of variable strengths, were found between the measurements performed by the app and the clinical scales and tests. Variable reliability, ranging from moderate to excellent, was found for all app measurements. Exercises that involved tapping and maximum finger-pincer grasp were sensitive to motor impairment severity. CONCLUSIONS: The convergent validity, reliability, and sensitivity to motor impairment severity of the app, especially of those exercises that involved tapping and the maximum extension of the fingers, together with the widespread availability of the app, could support the use of this and similar apps to complement conventional clinical assessments of hand function after stroke.

Longitudinal fMRI measures of cortical reactivation and hand use with and without training after sensory loss in primates.

In a series of previous studies, we demonstrated that damage to the dorsal column in the cervical spinal cord deactivates the contralateral somatosensory hand cortex and impairs hand use in a reach-to-grasp task in squirrel monkeys. Nevertheless, considerable cortical reactivation and behavioral recovery occurs over the following weeks to months after lesion. This timeframe may also be a window for targeted therapies to promote cortical reactivation and functional reorganization, aiding in the recovery process. Here we asked if and how task specific training of an impaired hand would improve behavioral recovery and cortical reorganization in predictable ways, and if recovery related cortical changes would be detectable using noninvasive functional magnetic resonance imaging (fMRI). We further asked if invasive neurophysiological mapping reflected fMRI results. A reach-to-grasp task was used to test impairment and recovery of hand use before and after dorsal column lesions (DC-lesion). The activation and organization of the affected primary somatosensory cortex (area 3b) was evaluated with two types of fMRI - either blood oxygenation level dependent (BOLD) or cerebral blood volume (CBV) with a contrast agent of monocrystalline iron oxide nanocolloid (MION) - before and after DC-lesion. At the end of the behavioral and fMRI studies, microelectrode recordings in the somatosensory areas 3a, 3b and 1 were used to characterize neuronal responses and verify the somatotopy of cortical reactivations. Our results indicate that even after nearly complete DC lesions, monkeys had both considerable post-lesion behavioral recovery, as well as cortical reactivation assessed with fMRI followed by extracellular recordings. Generalized linear regression analyses indicate that lesion extent is correlated with the behavioral outcome, as well as with the difference in the percent signal change from pre-lesion peak activation in fMRI. Monkeys showed behavioral recovery and nearly complete cortical reactivation by 9-12 weeks post-lesion (particularly when the DC-lesion was incomplete). Importantly, the specific training group revealed trends for earlier behavioral recovery and had higher magnitude of fMRI responses to digit stimulation by 5-8 weeks post-lesion. Specific kinematic measures of hand movements in the selected retrieval task predicted recovery time and related to lesion characteristics better than overall task performance success. For measures of cortical reactivation, we found that CBV scans provided stronger signals to vibrotactile digit stimulation as compared to BOLD scans, and thereby may be the preferred non-invasive way to study the cortical reactivation process after sensory deprivations from digits. When the reactivation of cortex for each of the digits was considered, the reactivation by digit 2 stimulation as measured with microelectrode maps and fMRI maps was best correlated with overall behavioral recovery.

Satisfying Clinical and Functional Results in 12 Apert Children Treated With Soft Tissue Distractor.

BACKGROUND: The complex syndactyly in Apert syndrome hands is challenging to operate. The synostosis and tightness of skin between third and fourth digits lead to severe coverage problems during ray release. A soft tissue distractor can simplify the release with the aim to keep all 10 fingers. METHODS: A retrospective follow-up of 12 patients/24 hands, median age 8 years (6 to 17 y), 6 boys and 6 girls, operated between 2000 and 2013 was done from 2015 to 2016. The surgical management started with syndactyly release of the first and fourth web, and later of the second. The third stage was placing a soft tissue distractor on the third and fourth finger after osteotomy on the synostosis between them. Four weeks of distraction and 2 weeks of rest resulted in regenerated skin between the digits giving much better coverage of the released digits at time of separation 6 weeks later. Assessment of hand function, grip strength and completion of the Patient Reported Outcome Measure CHEQ was performed. RESULTS: Soft tissue coverage at the time of digit separation was considerably facilitated. We experienced 2 infections in 2 hands. In 18/24 hands median 2 (1 to 3) small full thickness skin grafts were needed, usually for coverage of the base of the digits. All wounds healed well. The children managed different practical tasks well, alternating between best functioning grip depending on the activity. According to CHEQ, the children did median 19 (13 to 27) activities independently and median 8 (2 to 15) nonindependently, of a total of 29. Peak strength values for 10/12 children were for the right hand median 17.8% (9.6% to 40.6%) of normative data and for left hand median 13.6% (2.4% to 20.5%) of normative data. CONCLUSION: Soft tissue distraction facilitates the treatment of acrocephalosyndactyly hands, giving 5-fingered hands. Apert children manage many activities independently but struggled with fine motor skills demanding strength. LEVEL OF EVIDENCE: Level IV evidence.

Effects of Norepinephrine Infusion on Cutaneous Surface Temperatures of the Distal Extremities.

OBJECTIVES: The etiology of vasopressor-induced digital necrosis is poorly understood, but the skin changes resemble those of frostbite, and it is known from experience that patients taking vasopressors have decreased digital temperatures. We aimed to examine the effects of norepinephrine use on surface temperatures of the distal extremities because there have been no studies examining this relation. METHODS: Surface temperatures of all digits, palms, and soles were measured using an infrared thermometer in patients receiving different rates of norepinephrine infusion in the intensive care unit and compared with those not receiving any vasopressors. RESULTS: A total of 101 measurements from 41 unique individuals were obtained. Temperature gradients between the core and the fingertips were consistently more pronounced in those receiving norepinephrine compared with those not receiving norepinephrine and increased with increasing rates of norepinephrine infusion, except with high-dose norepinephrine. Temperature gradients were more pronounced in the toes. CONCLUSIONS: Norepinephrine use was associated with greater core-to-fingertip temperature gradients and were more pronounced in the toes compared with the fingers.

Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.

The PHF6 mutation c.1024C > T; p.R342X, is a recurrent cause of Börjeson-Forssman-Lehmann Syndrome (BFLS), a neurodevelopmental disorder characterized by moderate-severe intellectual disability, truncal obesity, gynecomastia, hypogonadism, long tapering fingers and large ears (MIM#301900). Here, we generated transgenic mice with the identical substitution (R342X mice) using CRISPR technology. We show that the p.R342X mutation causes a reduction in PHF6 protein levels, in both human and mice, from nonsense-mediated decay and nonsense-associated alternative splicing, respectively. Magnetic resonance imaging studies indicated that R342X mice had a reduced brain volume on a mixed genetic background but developed hydrocephaly and a high incidence of postnatal death on a C57BL/6 background. Cortical development proceeded normally, while hippocampus and hypothalamus relative brain volumes were altered. A hypoplastic anterior pituitary was also observed that likely contributes to the small size of the R342X mice. Behavior testing demonstrated deficits in associative learning, spatial memory and an anxiolytic phenotype. Taken together, the R342X mice represent a good preclinical model of BFLS that will allow further dissection of PHF6 function and disease pathogenesis.

Motor dysfunction in mild cognitive impairment as tested by kinematic analysis and transcranial magnetic stimulation.

OBJECTIVE: Previous studies have demonstrated voluntary movement alterations as well as motor cortex excitability and plasticity changes in patients with mild cognitive impairment (MCI). To investigate the pathophysiology of movement abnormalities in MCI, we tested possible relationships between movement abnormalities and primary motor cortex alterations in patients. METHODS: Fourteen amnestic MCI (aMCI) patients and 16 healthy controls were studied. Cognitive assessment was performed using clinical scales. Finger tapping was recorded by a motion analysis system. Transcranial magnetic stimulation was used to test the input/output curve of motor evoked potentials, intracortical inhibition, and short-latency afferent inhibition. Primary motor cortex plasticity was probed by theta burst stimulation. We investigated correlations between movement abnormalities, clinical scores, and cortical neurophysiological parameters. RESULTS: MCI patients showed less rhythmic movement but no other movement abnormalities. Cortical excitability measures were normal in patients, whereas plasticity was reduced. Movement rhythm abnormalities correlated with frontal dysfunction scores. CONCLUSION: Our study in MCI patients demonstrated abnormal voluntary movement and plasticity changes, with no correlation between the two. Altered rhythm correlated with frontal dysfunction. SIGNIFICANCE: Our results contribute to the understanding of pathophysiological mechanisms of motor impairment in MCI.

Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis.

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment, hypogonadism, renal abnormalities, and rarely, laryngeal webs or bifid epiglottis. Most patients present with obesity. Multiple genes are involved in causation of BBS and there is also evidence of triallelic inheritance. We herein report an Asian boy who had weak cry and stridor since birth, and on evaluation was found to have both laryngeal web and bifid epiglottis. Mutation analysis revealed a homozygous variant in BBS10 gene.

Finger drop sign as a new variant of acute motor axonal neuropathy.

We propose the finger drop sign as a new clinical variant of acute motor axonal neuropathy (AMAN) defined by immunological and radiological evidence. We identified eight consecutive patients who had AMAN. All of them developed prominent involvement of the finger extensors. We performed magnetic resonance imaging (MRI) of the extremity muscles and serological assays for antiganglioside antibodies and Campylobacter jejuni. Patients with AMAN showed characteristic and a markedly sustained weakness of the finger extensors with a distinctive pattern of the finger drop sign. Limb MRI revealed unevenly distributed abnormal signals in the muscles mainly innervated by the posterior interosseous nerve. All tested patients showed positivity for immunoglobulin G antibody against ganglioside complex of GM1 and phosphatidic acid. A pathophysiological understanding of this unique syndrome can provide further insight into antiganglioside-antibody-mediated axonal injury in Guillain-Barré syndrome.