Non-cirrhotic Extra-Hepatic Porto-Systemic Shunt Causing Adult-Onset Encephalopathy Treated with Endovascular Closure.

INTRODUCTION: Encephalopathy secondary to hyperammonemia due to Congenital Extra-hepatic Porto-systemic shunt (CEPS) in the absence of liver cirrhosis is an exceptionally unusual condition. We describe the case of a 54-year-old woman admitted to the Emergency Department complaining of recurrent episodes of confusion and worsening cognitive impairment. At admission, the patient displayed slowing cognitive-motor skills with marked static ataxia and impaired gait. Hyperammonemia was detected in the serum. An abdominal computed tomography (CT) excluded portal hypertension and liver cirrhosis, detecting a congenital extra-hepatic porto-systemic shunt which is a highly unusual vascular malformation. The patient was treated by interventional radiologists with a successful endovascular closure. AREAS COVERED: We have performed a review of the last three decades of the literature, starting from the introduction of CT scanning in common clinical practice. Eighteen studies (case reports) described 29 patients with encephalopathy secondary to hyperammonemia due to CEPS in the absence of liver cirrhosis: They underwent treatment similar to our case report of CEPS. EXPERT COMMENTARY: Encephalopathy secondary to hyperammonemia in the absence of hepatic dysfunction is an important diagnostic dilemma to many clinicians. An interventional radiologic approach is currently preferred.

Incidence and Prevention of Cicatricial Scleral Show in the Subciliary Access in Patients With Orbital Fractures.

: Orbital fractures can involve floor, lateral and medial wall. Surgical access depends on fracture's severity, ocular trauma and patient's age. Subciliary, subtarsal, infraorbital or transconjunctival approaches are the main access to the orbit. Surgical interventions in the eyelid may induce scar tissue formation and, consequently, the cicatricial scleral show. The authors present a study with the aim to evaluate the incidence of cicatricial scleral show in patients treated for orbital fractures with or without simultaneous Tarsal Sling Canthopexy in our Plastic Surgery Department. METHODS: The authors evaluated 50 patients divided in 2 groups: Group 1, subciliary approach and reconstruction of orbital floor without simultaneous Canthopexy Tarsal Sling; Group 2: reconstruction of orbital floor through subciliary approach with simultaneous Canthopexy Tarsal Sling. RESULTS: Patients, who underwent Canthopexy Tarsal Sling, did not have any scleral show. Instead patients, who did not undergo this prevention technique, had scleral show even if a minor entity. DISCUSSION: Although there was no muscle or skin removed, in our procedure, but only cutaneous incision, scleral show can appear as a complication. Canthal ligament and tarsus' elasticity influence the incidence of post-surgical scleral show, which is more frequent in elderly patients. Therefore, the authors suggest to prevent it routinely with Tarsal Sling Canthopexy. CONCLUSION: Canthopexy Tarsal Sling is procedure that stretch tarsal structure and it may help to prevent scleral show.

Fast and Early Mandibular Osteodistraction: The Long-Term Follow-Up of Mandibular Distraction Osteogenesis on Teeth Position.

Pierre Robin Sequence is a congenital pathology defined by the triad micrognathia, glossoptosis and often a U-shaped cleft of soft palate. Newborns affected by airways obstruction may necessitate more invasive options: tongue-lip adhesion, tracheostomy and mandibular distraction osteogenesis. The authors analyzed the effect of fast and early mandibular osteodistraction on deciduous dental development in patients affected by Pierre Robin Sequence. Analysis of the patients treated for severe form was performed by a team composed by maxillofacial surgeons and dentists. Five patients were included for the analysis: before and long term clinical and radiological assessments were considered. All patients underwent fast and early mandibular osteodistraction; two years follow up computed tomography and panorex reconstructions showed bone consolidation, 33 of 35 teeth analyzed before ostedistraction are present after distraction protocol; no positional changes were detected at the follow up analysis either deciduous teeth and molar permanent buds. No deformities regarding molar buds were detected. In conclusion external mandibular distractor devices have been associated with dental injuries and facial scaring. Even though, the dental complications identified can not be unambiguously connected to the external distractor devices.

Fast and early mandibular osteogenetic distraction in a 24-day-old female newborn with Larsen syndrome.

BACKGROUND: Larsen syndrome (LS) is a rare bone dysplasia characterized by multiple dislocations affecting large and small joints, progressive scoliosis, accessory and early ossifying carpal/tarsal bones, and characteristic craniofacial features. CASE PRESENTATION: A newborn with a clinical diagnosis of LS is presented. Shortly after birth, she had respiratory distress due to retrognathia. Such a life-threatening complication was resolved by mandibular distraction osteogenesis at 24 days of age. CONCLUSION: Fast and early mandibular osteogenetic distraction could represent an optimal tool to avoid tracheostomy and to improve oral feeding in patients with rare conditions, such as LS.

Disk repositioning surgery of the temporomandibular joint with bioabsorbable anchor.

The most common temporomandibular joint (TMJ) pathologic disease is anterior-medial displacement of the articular disk, which can lead to TMJ-related symptoms.The indication for disk repositioning surgery is irreversible TMJ damage associated with temporomandibular pain. We describe a surgical technique using a preauricular approach with a high condylectomy to reshape the condylar head. The disk is anchored with a bioabsorbable microanchor (Mitek Microfix QuickAnchor Plus 1.3) to the lateral aspect of the condylar head. The anchor is linked with a 3.0 Ethibond absorbable suture to fix the posterolateral side of the disk above the condyle.The aims of this surgery were to alleviate temporomandibular pain, headaches, and neck pain and to restore good jaw mobility. In the long term, we achieved these objectives through restoration of the physiological position and function of the disk and the lower articular compartment.In our opinion, the bioabsorbable anchor is the best choice for this type of surgery because it ensures the stability of the restored disk position and leaves no artifacts in the long term that might impede follow-up with magnetic resonance imaging.

Importance of fetal MRI in evaluation of craniofacial deformities.

AIM: This retrospective study aims at demonstrating the importance of a correct and detailed early diagnosis of craniomaxillofacial malformations affecting the fetus, which would (1) allow improvement in ultrasonography (US) diagnosis, (2) help in planning the therapeutic-surgical procedure, and (3) improve handling of the pathology by the families. MATERIALS AND METHODS: Between 2008 and 2011, a sample of 28 fetuses was selected, all with an ultrasound diagnosis of cleft lip (cheiloschisis-CL) and cleft lip and palate (palatoschisis-CLP) and craniofacial malformation, whose mothers had all underwent ultrasound diagnostic examinations and nuclear magnetic resonance (MRI). All cases were submitted to US examination between the 12th and 19th week of pregnancy, US-3D examination performed by a specialist radiologist between the 19th and 22nd week, and MRI examination between the 23rd and 33rd week of pregnancy. RESULTS: The MRI confirmed the ultrasound diagnosis of 16/28 cases and added information in 11/28 cases, and in 1 (1/28) case, the MRI denied previous CL-CLP ultrasound diagnosis. Moreover, in this study MRI improved the analysis of the entire morphology of the fetuses in cases when syndromic involvement with the involvement of other organs needs to be determined. CONCLUSIONS: The MRI method in fetal patients allows to obtain more details regarding the CL-CLP studied, allowing the medical-surgical team to plan, before the birth, the type of postnatal assessment and surgery to be performed, thus minimizing the impact on neonatal health and improving quality of life of both the patient and his family.

Surgical treatment of congenital rhabdoid tumor in a 10-day-old newborn.

BACKGROUND: Malignant rhabdoid tumors are rare and aggressive tumors of pediatric age. The primary tumor can occur in different localizations, but it mainly involves kidney, soft tissue, or central nervous system. It has been associated to a poor diagnosis. METHODS: The authors present the case of a 10-day-old newborn affected by a bulky nasofronto-orbitary neoplasm. The patient underwent radical surgical treatment and further excision of a preauricular metastasis combined with postoperative chemotherapy treatment. RESULTS: The authors adopted a diagnostic and therapeutic protocol according to international guidelines, not without difficulty because the first histological report showed esthesioneuroblastoma. The rarity and aggresivity of rhabdoid tumor and the precocity of onset in our patient presented a difficulty to define prognostic factors and survival rates, as well as therapeutic plan of treatment. CONCLUSIONS: The authors underline the importance of a correct prenatal diagnosis and an early surgical treatment to reach the complete healing of the patient.

Microdeletion 3q syndrome.

The authors present the clinical case of a 5-month-old boy, affected by multimalformative syndrome with features of microdeletion 3q syndrome. In the literature so far, the real incidence is unknown because of its rarity. The goal of this study was to describe the salient findings of this rare malformative syndrome, which needs a multidisciplinary approach. The patient had 3q interstitial chromosome deletion (q22.1-q25.2). He showed the following clinical features: microcephaly, microphthalmia, epicantus inversus, blepharophimosis, palpebral ptosis, short neck with pterygium, brachycephaly, round face, hypotelorism, broad nasal bridge, beaked nose, large and low-set ears, soft cleft palate, retromicrognathia with large mouth, arthrogryposis of the superior limbs and knees in association with clinodactyly, overlapping of second and third digits of both hands and feet, and gastroesophageal reflux. The patient developed physical and motor development delay. He was affected by Dandy-walker malformation, characterized by cerebellum vermis hypoplasia. The placement of the patient in contiguous gene syndrome (Dandy walker syndrome, Pierre-Robin sequence, and Seckel syndrome) was carried out by a multidisciplinary team to have a holistic evaluation of clinical findings. Thanks to this approach, it was possible to establish a complete diagnostic and therapeutic course. The genetic analysis enables to arrange an assistive program. Surgeons' attention was focused on the malformations, which represented an obstacle for normal development and social life.

PEEK Implants: An Innovative Solution for Facial Aesthetic Surgery.

The authors present a case report showing their experience with the use of PolyEtherEtherKetone (PEEK) implants as an innovative solution for the skeleton and soft tissues' reshaping in facial aesthetic plastic surgery. This technique offers the surgeon a reliable and effective way to answer patients' request of increasing volume and reshaping the malar area. A fifty-year-old patient complaining about hypoplasia of the malar area, after undergoing three operations of silicon implants' placement and replacement, was still unsatisfied about the symmetry and feeling through the skin of the lower lid, the rim of the prostheses. The authors suggested the use of bone-anchored PEEK implants, to increase the volume and reshape the malar area by a skeleton and soft tissue camouflage. The treatment was planned and previewed on the preop 3-dimensional CT scans for the customization of the implants. Although no cases are reported in international literature on the use of this material in facial aesthetic surgery, this technique seems to offer a safe and effective solution for the treatment of patients asking to increase and modify the shape of their malar area. Custom made PEEK implants are already used in craniofacial reconstructive bony surgery with good results, and 3D CT scan planning is widely used in these cases. No complications were reported in the case reported and the outcomes seem to the authors and to the patient being, finally, satisfactory.

Reconstruction of the Adult Hemifacial Microsomia Patient with Temporomandibular Joint Total Joint Prosthesis and Orthognathic Surgery.

BACKGROUND: HFM patients' reconstruction has always been a challenge for maxillofacial surgeons, and numerous reconstructive techniques have been described. Surgical treatment depends on the patient's age and contemplates Temporomandibular Joint (TMJ) reconstruction in conjunction with orthognathic surgery, usually necessary following completion of growth to maximize the functional and esthetic results. Distraction osteogenesis had gained popularity as valid alternative in growing patients, but the two primary methods to reconstruct the TMJs involve the use of autogenous, using free or microvascular bone grafts, or alloplastic graft, but there is no widely accepted method. METHODS: The increasing use of temporomandibular prosthesis for temporomandibular problems has led us to use them even in HFM. A case of female nongrowing patients with HFM type IIb treated with temporomandibular prosthesis in an all-in-one protocol is presented. RESULTS: Incisal opening, measured with BioPAK system (Bioresearch Inc., Milwaukee, USA), was 21.4 mm in the presurgical period and 32.2 mm after all-in-one procedure, for an increase of 50.5%. Excursive movement to the right side was 2.2 mm in the presurgical period and was 1.5 mm after surgery, for a decrease of 31.8%. Left excursion movement changed from 5 mm to 6.1 mm, for an increase of 22.0%. CONCLUSIONS: The TMJ Concepts patient-fitted TJP in conjunction with orthognathic surgery for TMJ and jaw reconstruction is a valid option for patients with HFM.

Three-dimensional airways volumetric analysis before and after fast and early mandibular osteodistraction.

PURPOSE: Newborns with Pierre Robin sequence (PRS) and syndromic micrognathia show microgenia and glossoptosis, which cause reduction of the airway and breathing difficulty from birth. Our goal is to analyze quantitative and qualitative volumetric changes before and after fast and early mandibular osteodistraction (FEMOD) and to compare radiological data. METHODS: The sample was composed of 4 patients, who satisfied inclusion criteria for completeness of data. Computed tomography pre- and post-operation were performed, then a volumetric assessment was made with Dolphin Imaging. Polysomnography was performed before and after FEMOD. RESULTS: Pre- and post-operative CT scan data were compared. The analysis of all three sections showed a significant increase of volumetric parameters. The retroglossal volume average increase was 346%, and the retropalatal volume average increase was 169%. These data matched the improvement recorded by polysomnography. CONCLUSIONS: The data confirm FEMOD as an efficient treatment to improve airways and breathing problem in patients affected by Pierre Robin sequence and syndromic micrognathia. The three-dimensional volume rendering could be a useful method to evaluate and quantify the increase in airways volume.

TMJ replacement utilizing patient-fitted TMJ TJR devices in a re-ankylosis child.

Temporomandibular joint (TMJ) ankylosis is a pathological condition characterized by articular bony or fibrous tissue fusion. TMJ ankylosis developing during childhood can lead to growth complications because of the loss of mandibular function. Hard and soft autogenous tissue grafting has been used for TMJ reconstruction in the growing patient. However, in cases where autogenous tissue grafts fail either due to unpredictable growth or ankylosis, total alloplastic temporomandibular joint replacement (TMJ TJR) can provide a viable option. The case of a 7-year old female suffering from recurrent bilateral TMJ ankylosis resulting from birth trauma, and with concomitant obstructive sleep apnea syndrome (OSAS) is presented. Due to prior surgical and autogenous graft failures, the decision was made to complete her joint reconstructions utilizing patient-fitted TMJ prostheses. Questions have been raised about the longevity of TMJ TJR devices as well as their lack of growth potential, but children with TMJ ankylosis do not have condyle-related growth potential and that replacing failed autogenous tissue graft material with more autogenous tissue will result in the same adverse outcomes. Therefore, in growing patients with recurrent TMJ ankylosis and/or failed autogenous tissue grafts, there may be a role for TMJ TJR.