Trigeminal trophic syndrome in a child – An unusual case report from Syria

The trigeminal trophic syndrome (TTS) is a rare form of cutaneous ulceration characterized by anesthesia, paresthesia and a secondary persistent facial ulceration. It is uncommon in children. However, we report an unusual case of TTS in a 5- year-old child with Moebius syndrome ,extending over the right nostril and then the other nostril was infected. The diagnosis of TTS was based on clinical history, tissue biopsy and serologic evaluation. The ulcer was treated with multiple antibiotics with no improvement. We describe this case because of very few pediatric cases of TTS published in the past , and to increase the awareness of this syndrome among dermatologists.

633 Dysregulated REM Sleep in Children with Moebius syndrome

Introduction Moebius syndrome (MBS) is a rare disorder characterized by failure of development of the 6th and 7th cranial nerve nuclei located in the pons. Though the congenital lesion abuts the pontine tegmentum, sleep architecture has not been evaluated in MBS. Methods We report the clinical features of three children with MBS, and discuss implications for “developmental” RBD. Results Three clinically and MRI brain scan-confirmed MBS children, age 0.5 to 16 years, mean 8.5 ± 6.3 years, were evaluated for disrupted sleep, with repetitive crying (1/3), yelling (2/3), agitation in sleep (2/3), and injuring a co-sleeping sibling (1/3); 3/3 had REM sleep without atonia while 2/3 had RBD. REM sleep was reduced in all three: 21.7% in the infant (reference REM percentage value in infancy is about 40%), 11.4% in subject 2 and 3% in subject 3. Treatment with clonazepam (patients 2 and 3) or melatonin (patient 1) had variable results. Conclusion Children with Moebius syndrome have both quantitative (reduced percentage) and qualitative abnormalities of REM sleep (RSWA/RBD). The association of MBS with RSWA/RBD suggests more extensive involvement than published in literature, with extension into the sub-laterodorsal pontine tegmentum and “REM-off” neurons. Moebius syndrome might serve as a model for study of “developmental” REM sleep behavior disorder. Support (if any):

Surgical Treatment of Clubfoot in Children with Moebius Syndrome

Moebius syndrome (MS) is a rare disease, with paralysis of the VI and VII cranial nerves, frequently associated with clubfoot (CF). The aim of this study was to evaluate surgical treatment of CF in MS, providing its peculiarities. Between 1990 and 2019, we collected data of 11 MS patients with unilateral (n = 5) or bilateral (n = 6) CF, for a total of 17 feet (9R,8L). Six patients (3M,3F) for a total of 10 feet (6R,4L) were treated elsewhere, performing first surgery at an average age of nine months, and in our hospital for relapse surgery at an average age of 4.5 years (Group 1). Five patients (3M, 2F), for a total of seven feet (3R,4L), were primarily treated in our hospital with a peritalar release according to McKay at an average age of 9.4 months (Group 2). Diméglio score was used to assess CF severity. Three questionnaires were submitted for evaluation of subjective and functional results: American Orthopedics Foot and Ankle Society for Hindfoot (AOFAS), Foot and Ankle Outcome Score (FAOS), and Foot and Ankle Ability Measure (FAAM). Average AOFAS/FAOS/FAMM scores were 82.8, 84.8, and 82.3 for Group 1, and 93.2, 94.7, and 95.1 for Group 2 at an average follow-up of 16.9 and 13.3 years, respectively. The average Diméglio score improved from 15.5 to 4.8 in the long-term follow-up in Group 1 and from 14.6 to 3.8 in Group 2. The comparison between the groups showed better results for AOFAS, FAOS, and FAAM scores for Group 2, particularly for pain, function, and foot alignment and for the post-surgical Diméglio score. CF in MS is more severe and presented a higher relapse rate (58.8%) than idiopathic CF. Peritalar release showed no relapse and better subjective and functional results in the long-term follow-up compared to other surgical techniques

The epidemiology of Moebius syndrome in Italy

Background The epidemiology of Moebius syndrome (MBS) is difficult to assess. In the present study, we investigated the epidemiology of MBS in a well-defined population within a precise geographical area. Materials and methods Our university hospital is the only national referral center for the diagnosis and treatment of MBS. Participants in this cross-sectional study were patients affected by MBS who had been periodically followed by our medical staff since 1998. Most of the patients were referred to our hospital by the Italian Association of Moebius Syndrome (AISMO). Demographic data necessary for study purposes were made available in the AISMO database, updated to April 2018. Subjects were assigned to geographical macroareas that are conventionally used in surveys and epidemiological investigations by the Italian National Institute of Statistics. The rates and prevalence of MBS cases were calculated on the basis of the last available survey of the Italian population. Each study parameter was then calculated with reference to the whole country and macroarea partition. The sex rate and the corresponding prevalence were calculated with respect to the weighted whole population and to the respective sex population. Chi-square analysis was adopted to investigate possible differences among geographical regions and/or sexes. A p value < 0.05 was considered statistically significant. Results One hundred and sixty-four out of 212 MBS patients fulfilled our inclusion criteria. All cases occurred in Caucasian patients and were sporadic. The median age at diagnosis was 3.6 years, ranging from 0 to 55 years; this range was significantly reduced to 0–5 years (median age at diagnosis: 2.2 years) in patients included after 2007. The calculated prevalence at birth was 0.06 cases per 10,000 live births, with an overall prevalence of 0.27/100,000, without any sex or geographical predominance. Conclusions The prevalence of MBS observed herein, rounded for possible underestimation, was 0.3/100,000 people, without any regional difference in the distribution of cases. Our data confirm the rarity of the disease on a national level.

A New Neurorehabilitative Postsurgery Intervention for Facial Palsy Based on Smile Observation and Hand-Mouth Motor Synergies

Objective. To perform a preliminary test of a new rehabilitation treatment (FIT-SAT), based on mirror mechanisms, for gracile muscles after smile surgery. Method. A pre- and postsurgery longitudinal design was adopted to study the efficacy of FIT-SAT. Four patients with bilateral facial nerve paralysis (Moebius syndrome) were included. They underwent two surgeries with free muscle transfers, one year apart from each other. The side of the face first operated on was rehabilitated with the traditional treatment, while the second side was rehabilitated with FIT-SAT. The FIT-SAT treatment includes video clips of an actor performing a unilateral or a bilateral smile to be imitated (FIT condition). In addition to this, while smiling, the participants close their hand in order to exploit the overlapped cortical motor representation of the hand and the mouth, which may facilitate the synergistic activity of the two effectors during the early phases of recruitment of the transplanted muscles (SAT). The treatment was also aimed at avoiding undesired movements such as teeth grinding. Discussion. Results support FIT-SAT as a viable alternative for smile rehabilitation after free muscle transfer. We propose that the treatment potentiates the effect of smile observation by activating the same neural structures responsible for the execution of the smile and therefore by facilitating its production. Closing of the hand induces cortical recruitment of hand motor neurons, recruiting the transplanted muscles, and reducing the risk of associating other unwanted movements such as teeth clenching to the smile movements.

Prevalence of Hand Malformations in Patients With Moebius Syndrome and Their Management

Background: Moebius syndrome is a disorder characterized by facial and abducens nerve paralysis. Patients can present a wide range of upper extremity malformations. Literature focused on orthopedic manifestations of Moebius syndrome shows variability in the prevalence and clinical presentation of upper extremity anomalies. The aim of this work is to evaluate the prevalence of upper extremity malformations in patients with Moebius syndrome, clarify its various clinical presentations, and present treatment strategies for their management. Methods: This is a retrospective, cross-sectional study including patients with Moebius syndrome and upper extremity malformations between 2012 and 2019. Data include demographic characteristics, Moebius syndrome subtype, type of malformation, affected extremity, and surgical procedures underwent. Quantitative data were recorded as mean (standard deviation [SD]), and qualitative data were expressed in terms of totals and percentages. Statistical association between Moebius syndrome subtype and development of upper extremity anomalies was evaluated using binary logistic regression. Results: Twenty-five out of 153 patients (16.3%) presented upper extremity malformations (48% male). Mean age of presentation was 9.08 ± 9.43 years. Sixty-eight percent of the malformations were unilateral. The most common presentations included Poland syndrome and simple syndactyly with 8 cases each (32%), followed by 5 cases of brachysyndactyly (20%), 3 cases of amniotic band syndrome (12%), and 1 case of cleft hand (4%). No statistical association was found between Moebius syndrome subtype and odds ratio for development of upper extremity anomalies. Thirteen patients (52%) underwent reconstructive procedures. Conclusion: Poland syndrome and syndactyly are the most common anomalies in patients with Moebius syndrome. Patients may present with a wide range of hand malformations, each patient should be carefully evaluated in order to determine whether surgical treatment is needed and to optimize rehabilitation protocols.