Bilateral Congenital Iris Sphincter Agenesis Diagnosed After Massive Bleeding Episode During Repair of Aneurysmal Dilation of Patent Ductus Arteriosus: A Case Report.

We report a rare case of an infant with both an aneurysmal dilation of the patent ductus arteriosus (PDA) and bilateral congenital iris sphincter agenesis. Her mydriasis without pupillary light reflex was first noted after a massive intraoperative bleeding episode during the PDA ligation. The assumption that the mydriasis was a sign of cerebral ischemia led to additional examinations and intensive medical therapies that in retrospect were unnecessary. This is the first reported case of combined aneurysmal dilation of a PDA and congenital iris sphincter agenesis in the anesthesia literature.

Midriasis benigna episódica. Experiencia en una consulta monográfica de neuro-oftalmología de un hospital terciario / Benign episodic mydriasis. Experience in a specialist neuro-ophthalmology clinic of a tertiary hospital

Introducción: Las anisocorias son un motivo de consulta relativamente frecuente en unidades de neuro-oftalmología (UNO). Suponen un reto diagnóstico por la variedad de procesos que pueden ocasionarla. En ausencia de síntomas acompañantes, suelen estar ocasionadas por procesos benignos. La midriasis benigna episódica (MBE) es una causa aislada de asimetría pupilar intermitente, de fisiopatología no esclarecida y predominio en mujeres jóvenes migrañosas. Sujetos, material y métodos: Describimos las características epidemiológicas y clínicas de los pacientes con MBE valorados en una UNO de un hospital terciario. Resultados: Un total de 7 pacientes fueron diagnosticadas de MBE. Todas eran mujeres, con edad media de 33 ± 10 años. Los motivos de consulta fueron asimetría pupilar (n = 5) y visión borrosa (n = 2) de presentación fundamentalmente unilateral (n = 6). La duración fue variable, desde minutos hasta 48 h. Cuatro pacientes (57%) presentaban como antecedente migraña sin aura. En estas, los episodios eran recidivantes (75%), de minutos de duración (75%) y asociaban visión borrosa (50%). Los estudios de neuroimagen (resonancia magnética cerebral) fueron normales. Discusión: La midriasis benigna episódica se presenta predominantemente en mujeres jóvenes. Se asocia al antecedente de migraña y hace plantear si se trata de un síntoma acompañante de la migraña, un aura migrañosa o de migraña oftalmopléjica. De predominio unilateral, puede sin embargo existir alternancia del ojo afectado o ser bilateral de forma simultánea, lo que nos hace cuestionarnos la idoneidad del término. En ausencia de síntomas acompañantes y en episodios de corta duración, no consideramos necesaria la realización de pruebas de imagen

Introduction: Anisocorias are a relatively frequent reason for consultation in neuro-ophthalmology units. They remain a diagnostic challenge for specialists as they may be due to several etiological factors. In the absence of other accompanying symptoms, anisocorias are usually due to benign processes. Benign episodic mydriasis (BEM) is an isolated cause of intermittent pupil asymmetry, in which the pathophysiology is still not fully understood, and is predominant in young women with migraine. Subjects, material and methods: We describe the epidemiological and clinical characteristics of patients with BEM, assessed in a neuro-ophthalmology unit in a tertiary hospital. Results: A total of 7 patients were diagnosed with BEM, all of them females, with a mean age of 33 ± 10 yrs. The patients presented with pupil asymmetry (n = 5) and blurred vision (n = 2), and 6 of the 7 patients had unilateral involvement. The duration of impairment varied from a few minutes to 48 hrs. Four patients (57%) had a clinical history of migraine without aura. The episodes in these 4 patients were recurrent (75%), often lasted for a few minutes (75%), and had associated blurred vision (50%). The neuroimaging studies were normal. Discussion: BEM appears predominantly in young women. It is frequently related to a previous history of migraine, and the specialist must consider if it is a concomitant symptom of common migraine, migraine with aura, or ophthalmoplegic migraine. Although BEM has unilateral predominance, there may be alternation of the affected eye or even bilateral impairment during the same episode, which makes us question the adequacy of the term to describe the process. Imaging tests are not recommended in the absence of other accompanying symptoms, or in short-term episodes

Cerebral arteriopathy associated with Arg179His ACTA2 mutation.

ACTA2 mutations have recently been shown to cause a multisystem smooth muscle dysfunction syndrome that may result in pediatric stroke. We report a case of ACTA2 mutation in a 3-year-old girl presenting with acute ischemic stroke and provide high resolution imaging of the cerebral arteries demonstrating novel findings of multiple tiny aneurysms (particularly in the posterior circulation), as well as the more characteristic imaging phenotype of straightened and narrowed proximal intracranial vessels, dilated cervical vessels and occlusion of the M1 MCA segment without lenticulostriate collateral formation. This newly identified disease should be added to the differential diagnosis of pediatric stroke and cerebral vasculopathy. Neuroradiologists, interventionalists, surgeons and neurologists should become familiar with this rare disease and its clinical sequelae.

Midriasis congénita como signo inicial de displasia septo-óptica / Congenital mydriasis as an initial sign of septo-optic dysplasia

La displasia septo-óptica (DSO)[MIM182230] es una entidad heterogénea poco frecuente, caracterizada por la tríada clásica: hipoplasia del nervio óptico, anomalías de las hormonas hipofisarias y defectos de la línea media cerebral (incluyendo agenesia del septumpellucidumy/o del cuerpo calloso; también se han descrito malformaciones corticales asociadas, citado como síndrome DSO plus). Referimos el primer caso clínico conocido, en el que el signo de diagnóstico inicial de DSO fue una midriasis bilateral, como manifestación de hipoplasia de ambos nervios ópticos, hipoplasia hipofisaria y disgenesia cerebral con alteración de migración neuronal. Discutimos el diagnóstico diferencial de la midriasis congénita (AU)

Septo-optic dysplasia (SOD)[MIM182230] consisting of a heterogeneous and uncommon condition characterised by the classic triad: optic nerve hypoplasia, abnormalities of pituitary hormone, and defects of the brain midline (including agenesis of the septum pellucidum and/or the corpus callosum; it has also been described associated cortical malformations, it was referred to as SOD plus syndrome).We report the first known case in which the initial diagnostic sign of SOD was a bilateral mydriasis as a manifestation of hypoplasia of both optic nerves, pituitary hypoplasia andcerebral dysgenesis with neuronal migration disorder. We discuss the differential diagnosis of congenital mydriasis (AU)

[Congenital mydriasis as an initial sign of septo-optic dysplasia]. / Midriasis congénita como signo inicial de displasia septo-óptica.

Septo-optic dysplasia (SOD)[MIM182230] consisting of a heterogeneous and uncommon condition characterised by the classictriad: optic nerve hypoplasia, abnormalities of pituitary hormone, and defects of thebrain midline (including agenesis of the septum pellucidum and/or the corpus callosum; ithas also been described associated cortical malformations, it was referred to as SOD plus syndrome).We report the first known case in which the initial diagnostic sign of SOD was a bilateralmydriasis as a manifestation ofhypoplasia of both optic nerves, pituitary hypoplasia andcerebral dysgenesis with neuronal migration disorder.We discuss thedifferential diagnosis of congenital mydriasis.

Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome.

BACKGROUND: A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction syndrome associated with patent ductus arteriosus and mydriasis present at birth. OBJECTIVE: To describe the structural ocular findings in three Danish children with this new syndrome and evaluate the possible functional consequences for visual development of the poorer imaging condition. RESULTS: Unresponsive mydriatic pupils with scalloping wisps of persistent pupillary membrane from the iris collarette were an early indicator of this rare genetic disorder in all three cases. Tortuousity of retinal arterioles was the main posterior pole finding, apparent during the first year of life and with a tendency to increase with age. In one case, it progressed to an aneurysmal-like state with breakdown of the blood-retinal barrier. CONCLUSIONS: Congenital mydriasis is an extremely rare pupil anomaly and is the feature for the early diagnosis of this new syndrome. The ophthalmologist should act in close collaboration with other specialists owing to the risk of aortic and cerebrovascular diseases and other complications associated with this disorder.

Congenital mydriasis combined with aneurysmal dilatation of a persistent ductus arteriosus Botalli: a rare syndrome.

Abstract. A child with congenital mydriasis and aneurismal dilatation of persistent ductus arteriosus is described. We discuss congenital mydriasis as a separate entity and in combination with heart diseases.

[Bilateral congenital mydriasis with accommodation failure]. / Bilaterale kongenitale Mydriasis mit Akkommodationslosigkeit.

In the literature congenital mydriasis is described as a very rare condition and explained as a result of isolated aplasia of the iris sphincter muscle. Aplasia of the ciliary muscle was assumed to cause congenital accommodation insufficiency. A case of congenital mydriasis with lack of accommodation is presented. The first ophthalmological check-up was 2 weeks after surgery for a persistent ductus arteriosus Botalli. The girl was 15 weeks old. Her parents had watched her dilated pupils since birth. The diameter of both pupils was 6.5 mm. They did not react to light, lid closure, or conjunctival administration of pilocarpine solutions up to 1%. A refractive error of OD +3.0 D and OS +2.5 D was measured by retinoscopy. The hypermetropia was also uninfluenced by topical locarpine 1%. Two drops of pheylephrine 2.5% caused additional pupillary dilatation of 0.5 mm. Besides the lack of accommodation and pupillary constriction, all ocular findings were regular. No chromosomal abnormalities were found. No further cases of pupillary disorders are known in the family. These findings can only result from the lack of cholinergic sensitivity or aplasia of the pupillary sphincter and ciliary muscle. The infant was supplied with bifocals and sunglasses. The near correction was spontaneous. At the age of 15 months there was a grating acuity of 20/80, which is in the normal range, as measured by preferential looking.

Bilateral congenital mydriasis.

A single case of bilateral congenital mydriasis is described. A review of the literature is presented and possible modes of inheritance are discussed.