Síndrome de Duane tipo II con upshoot marcado / Duane's syndrome type II with marked upshoot

El síndrome de Duane es una alteración de la motilidad ocular caracterizada por la retracción del globo ocular y el estrechamiento de la hendidura palpebral con la aducción, asociada a la restricción de la abducción, aducción o ambas. Han surgido muchas teorías sobre la etiología del síndrome de Duane, pero la mayoría de los autores coinciden en que es consecuencia de una alteración congénita del VI par craneal, con una inervación aberrante del recto lateral por el III par craneal. Esta es la causa más frecuente de inervación aberrante ocular congénita. Es más frecuente en el ojo izquierdo. El síndrome de Duane tipo I es el más frecuente, y es menos frecuente el tipo II. Presentamos dos pacientes masculinos de 11 y 37 años de edad respectivamente, con diagnóstico de síndrome de Duane tipo II, con exotropía de 15 grados por Hirchsberg en el ojo izquierdo y en el ojo derecho respectivamente; tortícolis mentón a la derecha, limitación de la aducción con estrechamiento de la hendiduda palpebral y marcado upshoot en relación con el ojo afecto. Se decide realizar reseción del recto lateral 8,0 mm del ojo afectado más Y split, para mejorar el marcado upshoot. Los pacientes después de la cirugía estaban en ortotropía sin upshoot, ni tortícolis(AU)

Duane's syndrome is an eye motility disorder characterized by globe retraction and palpebral fissure narrowing with adduction, associated to abduction restriction, adduction restriction or both. Many theories have been put forth about the etiology of Duane's syndrome, but most authors agree that it is the consequence of a congenital alteration of the sixth cranial pair with aberrant innervation of the lateral rectus by the third cranial pair. This is the most common cause of congenital aberrant ocular innervation, and is more frequent in the left eye. Duane's syndrome type I is the most common and type II is the least common. A presentation is provided of two male patients aged 11 and 37 years with a diagnosis of Duane's syndrome type II with 15 degree exotropia on Hirchsberg's scale in the left and right eye, respectively, chin torticollis to the right, adduction limitation with palpebral fissure narrowing, and marked upshoot in relation to the affected eye. It is decided to perform resection of the lateral rectus 8.0 mm from the affected eye plus Y split to improve the marked upshoot. After surgery the patients were on orthotropics without upshoot or torticollis(AU)

Síndrome de Duane tipo II con upshoot marcado / Duane's syndrome type II with marked upshoot

El síndrome de Duane es una alteración de la motilidad ocular caracterizada por la retracción del globo ocular y el estrechamiento de la hendidura palpebral con la aducción, asociada a la restricción de la abducción, aducción o ambas. Han surgido muchas teorías sobre la etiología del síndrome de Duane, pero la mayoría de los autores coinciden en que es consecuencia de una alteración congénita del VI par craneal, con una inervación aberrante del recto lateral por el III par craneal. Esta es la causa más frecuente de inervación aberrante ocular congénita. Es más frecuente en el ojo izquierdo. El síndrome de Duane tipo I es el más frecuente, y es menos frecuente el tipo II. Presentamos dos pacientes masculinos de 11 y 37 años de edad respectivamente, con diagnóstico de síndrome de Duane tipo II, con exotropía de 15 grados por Hirchsberg en el ojo izquierdo y en el ojo derecho respectivamente; tortícolis mentón a la derecha, limitación de la aducción con estrechamiento de la hendiduda palpebral y marcado upshoot en relación con el ojo afecto. Se decide realizar reseción del recto lateral 8,0 mm del ojo afectado más Y split, para mejorar el marcado upshoot. Los pacientes después de la cirugía estaban en ortotropía sin upshoot, ni tortícolis(AU)

Duane's syndrome is an eye motility disorder characterized by globe retraction and palpebral fissure narrowing with adduction, associated to abduction restriction, adduction restriction or both. Many theories have been put forth about the etiology of Duane's syndrome, but most authors agree that it is the consequence of a congenital alteration of the sixth cranial pair with aberrant innervation of the lateral rectus by the third cranial pair. This is the most common cause of congenital aberrant ocular innervation, and is more frequent in the left eye. Duane's syndrome type I is the most common and type II is the least common. A presentation is provided of two male patients aged 11 and 37 years with a diagnosis of Duane's syndrome type II with 15 degree exotropia on Hirchsberg's scale in the left and right eye, respectively, chin torticollis to the right, adduction limitation with palpebral fissure narrowing, and marked upshoot in relation to the affected eye. It is decided to perform resection of the lateral rectus 8.0 mm from the affected eye plus Y split to improve the marked upshoot. After surgery the patients were on orthotropics without upshoot or torticollis(AU)

A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome.

Focal segmental glomerulosclerosis (FSGS) is a leading cause of end-stage renal disease in children and adults. Genetic factors significantly contribute to early-onset FSGS, but the etiologies of most adult cases remain unknown. Genetic studies of monogenic syndromic FSGS exhibiting extra-renal manifestations have uncovered an unexpected biological role for genes in the development of both podocytes and other cellular lineages. To help define these roles, we studied two unrelated families with FSGS associated with Duane Retraction Syndrome, characterized by impaired horizontal eye movement due to cranial nerve malformation. All four affected individuals developed FSGS and Duane Retraction Syndrome in their first to second decade of life, manifested as restricted abduction together with globe retraction and narrowed palpebral fissure on attempted adduction. Hypoplasia of the abducens nerves and hearing impairment occurred in severely affected individuals. Genetic analyses revealed that affected individuals harbor a rare heterozygous substitution (p.Leu239Pro) in MAFB, a leucine zipper transcription factor. Luciferase assays with cultured monocytes indicated that the substitution significantly reduced transactivation of the F4/80 promoter, the known MAFB recognition element. Additionally, immunohistochemistry indicated reduced MAFB expression in the podocytes of patients. Structural modeling suggested that the p.Leu239Pro substitution in the DNA-binding domain possibly interferes with the stability of the adjacent zinc finger. Lastly, podocytes in neonatal mice with p.Leu239Pro displayed impaired differentiation. Thus, MAFB mutations impair development and/or maintenance of podocytes, abducens neurons and the inner ear. The interactions between MAFB and regulatory elements in these developing organs are likely highly specific based on spatiotemporal requirements.

Extraocular muscle dysinnervation disorder resembling Duane retraction syndrome in a 9-month-old French Bulldog.

A 9-month-old French Bulldog was presented with a chronic history of lateral strabismus and intermittent third eyelid protrusion in the left eye. The neuro-ophthalmological examination revealed mild ptosis of the left upper eyelid, mild lateral strabismus, and external ophthalmoparesis of the left eye. Retraction and ventral deviation of the left eye globe with protrusion of the third eyelid and elevation of the upper eyelid were elicited on attempted voluntary adduction of the left eye. Hematology, serum biochemistry, serology for infectious diseases, magnetic resonance of the head, and cerebrospinal fluid analysis did not reveal significant abnormalities. Forced duction test did not show signs of mechanical restriction in ocular motility. A suspected congenital cranial dysinnervation disorder resembling Duane retraction syndrome in humans was diagnosed based on the typical clinical signs and exclusion of structural abnormalities. The clinical signs remained stable for 9 months until the time of writing this report.

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.

Duane retraction syndrome (DRS) is a congenital eye-movement disorder defined by limited outward gaze and retraction of the eye on attempted inward gaze. Here, we report on three heterozygous loss-of-function MAFB mutations causing DRS and a dominant-negative MAFB mutation causing DRS and deafness. Using genotype-phenotype correlations in humans and Mafb-knockout mice, we propose a threshold model for variable loss of MAFB function. Postmortem studies of DRS have reported abducens nerve hypoplasia and aberrant innervation of the lateral rectus muscle by the oculomotor nerve. Our studies in mice now confirm this human DRS pathology. Moreover, we demonstrate that selectively disrupting abducens nerve development is sufficient to cause secondary innervation of the lateral rectus muscle by aberrant oculomotor nerve branches, which form at developmental decision regions close to target extraocular muscles. Thus, we present evidence that the primary cause of DRS is failure of the abducens nerve to fully innervate the lateral rectus muscle in early development.

Duane retraction syndrome in a patient with Duchenne muscular dystrophy.

PURPOSE: We describe the clinical features of a boy with bilateral Duane retraction syndrome (DRS), Duchenne muscular dystrophy (DMD), and other medical problems. METHODS: The child was followed-up for five years; his chart was reviewed, including the results of a muscle biopsy and genetic testing. Multiplex ligation-dependent probe amplification (MLPA) was used to interrogate deletions/duplications in the dystrophin gene. RESULTS: The proband had bilateral DRS with otherwise normal ocular motility; he also had developmental delay, mild mental retardation, and seizures. Clinical diagnosis of DMD included progressive proximal weakness, highly elevated creatine kinase levels, and a muscle biopsy showing significant dystrophic changes including contracted, degenerative, and regenerative fibers, and negative dystrophin immunostaining. MLPA documented duplication of exons 3 and 4 of the dystrophin gene. CONCLUSIONS: This boy is the third patient to be reported with DRS and DMD, the second with bilateral DRS and the only one with other neurologic features. Mutated dystrophin is present in extraocular muscles and in the central nervous system (CNS) in DMD, leaving open the question of whether this co-occurrence is the result of the genetic muscle abnormality, CNS effects caused by dystrophin mutations, or chance.

Síndrome de pseudo-duane paraneoplásico secundario a tumor de mama / Pseudo-duane's paraneoplasic syndrome secondary to breast tumor

Se describe el caso clínico de una mujer de 50 años con antecedentes personales de cáncer de mama, que refiere alteraciones de los movimientos oculares. En la exploración se observa una limitación de la abducción y estrechamiento de la hendidura palpebral en aducción en ambos ojos. RMN craneal y orbitaria normales. Marcadores tumorales con títulos bajos. Se realiza el diagnóstico de Síndrome de pseudo- Duane, ya que se trata de un síndrome restricitivo adquirido. En este caso, su presentación clínica es similar al síndrome Duane tipo I, siendo contradictorio a lo descrito en publicaciones previas. Por otra parte, este síndrome está relacionado en el tiempo con su patología oncológica y la RMN es normal, por lo que lo consideramos un síndrome paraneoplásico. Destacamos la originalidad del caso debido a su inusual etiología, y clínica (AU)

We report the case of a 50 years-old woman with history of breast tumor and anormal ocular motility. An examination of ocular motility revealed limited abduction and narrowing of the palpebral fissure on adduction. Orbital and cranial nuclear magnetic resonance were normal. Tumor markers had low levels. We think about her oncologic history because of the beginning of the sintomatology in this period of time. The diagnosis was Pseudo-Duane syndrome, wich is a restrictive acquired syndrome. Despite clinical presentation was similar to Duane I syndrome, it is enterely different from it. We highlight the originality of the case due to its inusual ethiology(only one case published previously) and its clinical presentation (AU)

Thromboembolism and congenital malformations: from Duane syndrome to thalidomide embryopathy.

OBJECTIVE: To propose a pathophysiologic mechanism to unify a variety of disparate sporadic congenital malformations. METHODS: Inductive and deductive analyses to correlate malformation laterality with asymmetries in thoracic anatomy, critical analysis of malformations with female predominance, and concepts of hydrodynamic pressure gradients in vascular growth were applied to the ensuing development of guiding tissue scaffolds for cellular proliferation, differentiation, and apoptosis. RESULTS: Duane syndrome may develop following a focal vascular insult to the sixth nerve trunk with axonal degeneration, allowing for substitutive innervation from third nerve axons to the lateral rectus muscle. Causative fibrin clots may originate from the venous system and paradoxically migrate through physiological right-to left shunts, or they may arise directly from the heart. Hence, the unilateral, left-sided, and female predominance of Duane syndrome results from the asymmetry in the thoracic anatomy and from thrombosis risk factors. Embolic occlusions may also alter local hemodynamic pressure gradients, leading to the compensatory enlargement and persistence of the fetal vasculature and may dysregulate tissue growth. Within the eye, this results in forms of Peters anomaly, unilateral congenital cataracts, and the morning glory disc anomaly, all in the vascular territory of the carotid arteries that also share a propensity for left-sided involvement in girls. Most aberrant misinnervation phenomena (eg, jaw-winking syndrome, crocodile tear syndrome, Brown syndrome, and congenital fibrosis syndrome) and, by extrapolation, the hypoplasia or dysgenesis of noncephalic anatomical structures (including limbs) may be similarly explained. Such malformations will occur more frequently under thrombogenic conditions, such as those induced by thalidomide. CONCLUSIONS: Fibrin emboli and focal hypoperfusion may explain the development of many sporadic congenital malformations.

[Using the superficial temporal fascia flap in orbital surgery]. / Utilisation du lambeau de fascia temporalis superficialis en chirurgie orbitaire.

The superficial temporal fascia flap gives a fine malleable well vascularized tissue and can be used as a pedicled or a free flap to cover large areas of loss of substance. Its dissection needs a period of training. Its use in orbital surgery is rare. However when it is about an anophthalmic socket following radiotherapy with orbital retraction syndrome, it provides tissue of good quality. This could allow later reconstruction by mucous grafts. When used on cavities of exenteration it allows fast re-epithelialisation even post-radiotherapy, while allowing the monitoring of the cavity and in particular the early detection of any tumor recurrence. Its use is advantageous in unfavorable conditions especially after radiotherapy.

Transient pseudo-Duane syndrome after lateral orbital trauma.

Duane syndrome is a dysinnervation disorder that frequently involves secondary anomalous eye movement, in particular, ocular retraction and the narrowing of the palpebral fissure on the adduction. Pseudo-Duane syndrome is caused by a mechanical restriction that produces clinical findings similar to those of Duane syndrome. Most patients with pseudo-Duane syndrome have restrictive pathologies on the medial side of the globe, such as entrapment of the medial rectus muscle. We report the case of a 44-year-old man with pseudo-Duane syndrome in whom we identified a lateral orbital wall fracture and entrapment of the soft tissue surrounding the lateral rectus muscle by computed tomography. To the best of our knowledge, this etiology of pseudo-Duane syndrome has not been previously reported.

Case report: Duane Retraction Syndrome associated with hand anomaly.

Duane Retraction Syndrome is a congenital eye movement disorder characterized by a failure of cranial nerve VI to develop normally, resulting in restriction or absence of abduction, restricted adduction and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. Patients with Duane Retraction Syndrome appear to have a significant increase in the number of associated congenital malformations. In the present paper, the authors report a case of Duane Retraction Syndrome with a unique hand abnormality not reported previously.

Unilateral vertical retraction syndrome with orbital band.

Vertical retraction is a special form of retraction syndrome. In the past, the cause of this retraction has been thought to be a limiting fibrous band at the level of the inferior rectus muscle rather than co-contraction. Here the authors present a girl with unilateral retraction in upgaze and report the magnetic resonance imaging findings associated with retraction and narrowing of the palpebral fissure.

A case of pseudo-Duane's retraction syndrome with old medial orbital wall fracture.

We report a case of pseudo-Duane's retraction syndrome with entrapment of the medial rectus muscle in an old medial orbital wall fracture presenting identical clinical symptoms as Duane's retraction syndrome. A 15-year-old boy presented with persistent limited right eye movement since a young age. Examination showed marked limited abduction, mildly limited adduction, and globe retraction accompanied by narrowing of the palpebral fissure during attempted adduction in the right eye. He showed a right esotropia of 16 prism diopters and his head turned slightly to the right. A slight enophthalmos was noted in his right eye. A computed tomography scan demonstrated entrapment of the medial rectus muscle and surrounding tissues in an old medial orbital wall fracture. A forced duction test revealed a marked restriction of abduction in the right eye. A 5 mm recession of the right medial rectus muscle was performed. Postoperatively, the patient's head turn and esotropia in the primary position were successfully corrected, but there was still some limitations to his ocular movement. The importance of several tests such as the forced duction test and an imaging study should be emphasized in making a diagnosis for limitation of eye movement.

Atypical association of Duane retraction syndrome and Bardet Biedl syndrome.

Duane's retraction syndrome (DRS) includes changes in palpebral fissure width along with restriction of ocular motility. Bardet Biedl syndrome (BBS) includes presence of retinitis pigmentosa (RP) with obesity, mental retardation, polydactyly and renal abnormalities. We report a case of rare association of DRS with BBS in a seven-year-old child. The ocular motility examination revealed left DRS with esotropia. Fundus examination revealed findings characteristic of an atypical retinitis pigmentosa. The electro-retinogram waveforms were extinguished both for rods and cones. He was diagnosed as a case of BBS on the basis of the ophthalmological findings plus association with the systemic features of obesity, polydactyly, hypogonadism, mental retardation and renal abnormalities. This case gives further evidence of the fact that BBS may be associated with abnormalities of eye movements.

[Duane's syndrome--etiopathogenesis, clinical features and diagnosis]. / Sindromul Duane--consideratii etiopatogenice clinice si de diagnostic.

Duane syndrome is a congenital disease also known as congenital retraction syndrome or Stilling-Turk-Duane retraction syndrome. There are three types of Duane syndrome; their variability is given by the aberrant innervation of the lateral rectus muscle. The symptoms of the disease were described and they are all known, but the etiology and the pathology remain unclear. Although Duane syndrome was considered as a pure local myogenic phenomenon (the lateral rectus muscle fibrosis), the modern theory is the absence of the abducens nuclei. Various theories have been put forward on the basis of data collected from surgical, autopsy and electromyography studies. The most frequent and terrifying differential diagnosis is the VI nerve palsy and the symptoms of Duane syndrome suggest an intracranial disease, so we understand the parents and patient fear. That's why is very important to explain them the causes and the consequences of the disease and to educate the patients to obtain the optimal functional and mental comfort. Finally, we have in mind one, at least subjective, question: why is the abducens nerve nucleus affected and how?