Five-year follow-up outcomes of comprehensive rehabilitation in Korean siblings with cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: A case report.

RATIONALE: Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome is a very rare multisystem disorder, which shows malformations of the central nervous system, ears, eyes, teeth, and skeleton that was first reported in 1991. Only a few cases that sporadically occurred have been reported worldwide. The research investigating the pathogenesis and patterns of CODAS inheritance is still ongoing. There is no satisfactory treatment for this rare genetic disease yet. Due to the lack of curative medical treatment, rehabilitation could play a major role in treatment for genetic disease. PATIENT CONCERNS: To our best knowledge, the 2 children described in this study are the only CODAS syndromes siblings reported in the world so far. These Korean siblings show highly distinctive features consisting of developmental delay, cataracts, vulnerability to tooth decay, epiphyseal dysplasia, and anomalous ears. DIAGNOSES: CODAS syndrome. INTERVENTIONS: Comprehensive long-term rehabilitation treatment during 5 years. OUTCOMES: We report on the progress of the comprehensive long-term rehabilitation treatment at 5-year follow-up. Their fine motor and language skills development improved similarly to that of same-aged children. We observed the positive effect of rehabilitation on the quality of life. LESSONS: The therapy of genetic disorders is challenging for pediatric neurologists and pediatric physiatrists. We suggest that rehabilitation is the best treatment currently available for this genetic disease that yields satisfactory therapeutic effect.

Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report.

We report the clinical and rehabilitative follow up of M, a female child carrying a compound heterozygous pathogenic mutations in the TCTN1 gene and affected by Joubert Syndrome (JS). JS is a congenital cerebellar ataxia characterized by "the molar tooth sign" on axial MRI, a pathognomonic neuroradiological malformation involving the cerebellum and brainstem. JS presents with high phenotypic/cognitive variability, and little is known about cognitive rehabilitation programs. We describe the therapeutic settings, intensive rehabilitation targets and outcome indexes in M's cognitive development. Using a single case evidence-based approach, we attempt to distinguish the effectiveness of the intervention from the overall developmental trend. We assume that an adequate amount of focused, goal directed treatment in a relative short period of time can be at least as effective as one provided in longer time, and much less interfering with the child's everyday life. We conclude by discussing specific issues in cognitive development and rehabilitation in JS and, more broadly, in cerebellar malformations.

Double-setting alpha-tricalcium phosphate cement provided with interconection channels in rabbits after enucleation: a potential implant for the anophthalmic socket / Cimento de alfa-fosfato tricálcico de dupla pega munido de canais de interconexão em coelhos enucleados: um possível implante para cavidade anoftálmica

The purpose of this study was to evaluate the macroscopy and microstructure of a double setting alpha-tricalcium phosphate bone cement sphere provided with interconnection channels (alpha-TCP-i), as well as the integration of the implant with the rabbits' orbital tissue, through macroscopic analysis and histopathology. The external and internal surfaces of the alpha-TCP-i were evaluated macroscopically and by electron microscopy. Twelve New Zealand rabbits received 12mm implants of alpha-TCP-i following enucleation of the left eye. The clinical assessment was undertaken daily during the first 15 days, followed by fortnightly assessment until the end of the study period. For the morphological analysis, exenteration was performed in 3 animals per experimental period (15, 45, 90 and 180 days). The external and internal surfaces of the implant appeared solid, smooth and compact, with six channels which interconnected centrally. The micro-architecture was characterized by the formation of columns of hexagonal crystals. No signs of infection, exposure, dehiscence of sutures or extrusion of the implant were noted in any of the animals during the entire period of the study. The morphological evaluation demonstrated the presence of a thin capsule around the implant, from whence appeared fibro-vascular projections, which penetrated it through the interconnecting channels. In the first days after the insertion of the implant, an intense inflammatory reaction was noted. At 180 days, however, there were no signs of inflammation. The alpha-tricalcium phosphate cement implant was well tolerated in this rabbit model and appeared to be relatively inert with some fibrovascular ingrowth through the large channels.

Avaliaram-se a macroscopia e a microestrutura de esferas compostas por cimento ósseo de alfa-fosfato tricálcico de dupla pega munido de canais de interconexão (alfa-TCP-i) e a integração do implante ao tecido orbital de coelhos através de análise macroscópica e histopatológica. A superfície interna e externa do alfa-TCP-i foi avaliada macroscopicamente e por microscopia eletrônica. Após enucleação do bulbo ocular esquerdo, 12 coelhos da raça Nova Zelândia receberam implantes do alfa-TCP-i com 12mm de diâmetro. A avaliação clínica foi realizada diariamente nos primeiros 15 dias e depois a cada quinze dias até o fim do período de estudo. Para análise morfológica, seguiu-se a exenteração de três animais por período experimental (15, 45, 90 e 180 dias). As superfícies externa e interna do implante mostraram-se compactas, sólidas e lisas, com seis canais que se interconectavam centralmente. A microarquitetura caracterizou-se pela formação de colunas de cristais hexagonais. Sinais de infecção, exposição, deiscência de sutura ou extrusão não foram notados em nenhum dos animais durante o período de estudo. A análise morfológica revelou a presença de fina cápsula ao redor do implante de onde surgiram projeções fibrovasculares que o penetraram através dos canais de interconexão. Nos primeiros dias após a inserção das esferas, notou-se intensa reação inflamatória que se mostrou ausente aos 180 dias. O implante do cimento de alfa-fosfato tricálcico foi bem tolerado em coelhos, mostrou-se relativamente inerte e permitiu a infiltração de tecido fibrovascular através dos canais de interconexão.

Defining success in infant penetrating keratoplasty for developmental corneal opacities.

BACKGROUND AND PURPOSE: Neonatal corneal opacities (NCO) are one of the common causes of visual impairment in infants. We present the two infants with penetrating keratoplasty (PKP) for unilateral NCO with different visual and graft outcomes, and illustrate the importance of timing of surgery, importance of visual rehabilitation, and the lack of necessity of a clear graft to achieve reasonable visual function in infants with NCO. PATIENTS AND METHODS: Two infants with unilateral NCO (Peters anomaly) underwent PKP at age of 5.5 weeks (Case One) and 16 weeks (Case Two). Postoperative optical correction, amblyopia therapy, visual and graft outcomes were recorded. RESULTS: At the last follow-up (9.5 years in both the cases), Case One achieved a best-corrected visual acuity (BCVA) of 20/80 with -22 D of contact lens. The graft had a small clear zone centrally but otherwise was opacified to some extent. Case Two achieved a BCVA of 20/125 at 30 cms eccentrically with a clear graft. Case Two was uncooperative for amblyopia therapy and optical treatment. CONCLUSION: For a successful visual outcome in NCO, early PKP, aggressive amblyopia therapy, optical correction, and commitment from the parents for longterm follow-up and demanding treatment are required.

Secondary nerve lengthening to obtain full knee extension in popliteal pterygium syndrome.

Microsurgical nerve lengthening was performed in two siblings presenting a popliteal pterigium syndrome with a knee flexion contracture of 80 degrees. After the first attempt for nerve lengthening and knee extension elsewhere, a repeated lengthening was required due to continuing tip-toe walking and recurrent knee contracture at the age of 3 years. An extensive external and internal interfascicular microsurgical neurolysis resulted in a lengthening of the nerves. A full length of leg procedure had to be performed, inclusive of Achilles tendon lengthening to obtain a complete extension of the knee and a 90-degree ankle flexion. Maintaining the leg in a fully extended position was obtained with a dynamic splinting in the first month after the operation. When timing the operation we have to consider the importance of adequate precision of the microsurgical neurolysis, down to the identification of the Fontana bands, and the adequate postoperative splinting.

Custom-made ocular prosthesis for a pediatric patient with unilateral anopthalmia: a case report.

Congenitally missing eye, often called as anopthalmia, is a rare condition. This causes disfigurement of the face, which poses psychological effect on children, making them emotionally weak and conscious which, in turn, causes anxiety, stress, and depression at an early age in life. The custom-made ocular prostheses should thus be provided as soon as possible to help children improve their social acceptance. We present a case of 9-year-old boy who reported with congenital anopthalmia of right eye, which was then restored with custom-made ocular prosthesis.

Successful visual rehabilitation in a case of anterior megalophthalmos.

We report a case of 40-year-old female who presented with diminution of vision in both eyes. Ocular evaluation showed presence of bilateral megalocornea with deep anterior chamber, iridodonesis, cataract, and anterior embryotoxon. She was diagnosed with bilateral anterior megalophthalmos. She underwent an uneventful cataract extraction with standard posterior chamber intraocular lens implantation of overall large diameter in the left eye. Zonular dialysis was not evident intraoperatively despite the presence of iridodonesis. Postoperatively the intraocular lens was well centered throughout follow up. This case report reviews this rare disorder and highlights successful visual rehabilitation.

Joubert syndrome: report of 11 cases.

Joubert syndrome (JS) is an autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay, and variable occurrence of oculomotor apraxia and neonatal breathing abnormalities. The 11 cases were searched according to their clinic, radiologic, and mutation analysis findings, according to which they were diagnosed as JS. Physical, neurological and fundus examinations were performed in all patients. Cerebral magnetic resonance imaging scan, abdominal ultrasonography, and if necessary, echocardiography were performed. CC2D2A and ARL13B mutations were analyzed in our 11 JS patients. The mean age was 31.09 ± 37.49 months (range: 1 month - 10 years). Two of the cases were siblings. Nine of the cases had a history of episodic hyperpnea. The other findings were hypotonia, ataxia, psychomotor retardation, and nystagmus. In all patients, the "molar tooth sign" was observed with scanning methods. In addition, cerebellar cortical dysplasia was established in one of the cases. Macrocephaly (1 patient), multiple renal cysts (1 patient), ocular coloboma (2 patients), ptosis (1 patient), congenital heart disease (1 patient), polydactyly (2 patients), and congenital hip dislocation (2 patients) were also determined. We identified mutation (c.C4452T → p.R1518W) in CC2D2A in two patients. JS can show heterogeneity clinically, neuroradiologically and genetically. Determination of the symptoms, early diagnosis and genetic consultation are the goals for decision-making to begin treatment and rehabilitation programs.

[Basic trends in the organization of ocular prosthetics service]. / Osnovnye napravleniia organizatsii sluzhby glaznogo protezirovaniia.

The key issues related with rendering the ocular prosthetic aid to patients with anophthalmos and with cosmetically inferior, i.e. a smaller-size, blind eye, are in the focus of attention. Around 320,000 persons need ocular prostheses in the territory of the Russian Federation, hence adequate prosthetic measures are taken to cope with the cosmetic, medical and social rehabilitation of patients. The ocular prosthetics service deals with issues related with prostheses manufacturing technologies as well as with other therapeutic and surgical aspects which call for working out a unified policy with its subsequent commissioning into the practice of ophthalmologic institutions.

[Rehabilitation with bone anchored facial prostheses]. / Rehabilitation mit knochenverankerten Orbitaepithesen.

BACKGROUND: Rehabilitation of orbita defects with loss of eyelids is difficult to achieve with plastic surgery. Here defect coverage with a facial prosthesis shows good results. PATIENTS AND METHODS: 105 patients with orbita defects were treated since 1991 with bone anchored facial prostheses. Preoperatively we measured the bone availability with computed tomography. We inserted Brånemark-titanium implants (Fa. Nobel Biocare), with a two-stage procedure. After a period of at least three months we exposed implants and connected the supraconstruction. Then our anaplastologist produced the facial prosthesis, either a "soft" facial prosthesis of silicone or a "solid" prosthesis of polymethylmetacrylate (PMMA). Not later than every three months patients came to recall. RESULTS: For all patients we found enough bone for implantation. The implants were screwed into the lateral bony orbital margin. There were no intraoperative complications accompanying implant insertion. For 96 patients we chose the silicone material; for nine patients we did produce the facial prosthesis of PMMA. In about 10.5% of the implants we had to remove subcutaneous tissue in local anesthesia because of recurrent periimplantary inflammations. Three years after insertion 95.8% of the implants were still firmly anchored in the bone. CONCLUSIONS: Performed by the experienced specialist the prosthetic treatment of orbita defects with a bone anchored facial prosthesis is a cosmetically satisfactory procedure with good long-term outcome. While modern plastic materials can replace the lost tissue with deceptively natural results, the implants guarantee firm secure retention of the facial prosthesis.

Essentials in fitting ocular prostheses for complex congenital and acquired anomalies.

BACKGROUND: Providing ocular prosthetic services is an important aspect of total patient care. A patient who has lost an eye to injury, inflammation, or tumor experiences emotional and psychological trauma similar to that experienced by an amputatee. Congenital absence also creates a special set of circumstances. A prosthesis that is lifelike in appearance is a comfort to the patient, and the physical wearing comfort becomes a primary prerequisite for the patient. CASE REPORTS: A variety of congenital and acquired anomalies are used to illustrate the clinical application of modern-day materials used to fabricate and fit ocular prostheses. A comprehensive evaluative protocol is also presented. CONCLUSION: New materials and better fitting techniques allow more patients to wear prostheses greater comfort and cosmetic approval. The primary care optometrist should be familiar with the options available to the patient and the standard of care in evaluation of patients who wear a prosthesis.

Consideraçöes sobre as transposiçöes dos músculos retos: o deslizamento lateral / Some thougts about rectus muscles transpositions: the side slip

As operaçöes chamadas transposiçöes musculares têm-se demonstrado úteis para a correçäo de certos tipos de estrabismo, tanto comitantes como incomitantes. A interpretaçäo mecânica do efeito da cirurgia tem, entretanto, sido alvo de discrepâncias, que partem já da interpretaçäo dos fatos fisiológicos relativos aos músculos retos. Os antigos tratados mostravam que uma duçäo ocular em direçäo perpendicular ao plano de açäo de um músculo reto provoca um deslizamento desste sobre a esclera, de modo a que ele assume sempre o trajeto mais curto entre as duas inserçöes. Teorias modernas têm afirmado o inverso, isto é, que os músculos retos atravessam formaçöes semelhantes a polias, situadas na regiäo equatorial do olho, que impedem fortemente os movimentos de translaçäo. Isto garantiria a imutabilidade da açäo do músculo, qualquer que seja a posiçäo adotada pelo olho. Alguns trabalhos, que assumem essa linha de pensamento, afirmam que aquelas estruturas impedem o deslizamento lateral dos músculos inclusive nas operaçöes de transposiçäo muscular, como a de Hummelsheim. O autor exibe fotografias de atos cirúrgicos, mostrando que as estruturas säo destruídas durante esse tipo de operaçäo, pois a posiçäo dos músculos mostra que há translaçäo, pelo menos a partir de uma regiäo situada atrás do pólo posterior. Exibe também curvas comprimento-força realizadas durante as operaçöes, mostrando que as operaçöes tipo Carlson&Jampolsky, para a paralisia de abduçäo, criam certa limitaçäo passiva de aduçäo, contrariamente à cirurgia de Knapp para a assim chamada dupla paralisia de elevadores