Síndrome de Moebius y ortotropía en posición primaria: ¿es infrecuente esta asociación? (Colombia) / Moebius syndrome and orthotropia in primary position: is this association uncommon? (Colombia) / Síndrome de Moebius e ortotropia em posição primária: é uma associação incomum? (Colômbia)

El síndrome de Moebius es una enfermedad congénita poco común que se caracteriza por el compromiso unilateral o bilateral del VI y VII par craneal, lo que compromete los músculos que controlan la oculomotricidad, produciendo una parálisis en la abducción del globo ocular y los músculos involucrados en la expresión facial. Su presentación clínica y grados de severidad son variables, puede presentar compromiso simétrico o asimétrico. Adicionalmente, gran parte de los casos se relacionan con trastornos del lenguaje, anomalías musculoesqueléticas y orofaciales. En el presente artículo se presenta el caso de una paciente femenina de 3 años producto de un embarazo trigemelar con diagnóstico clínico de síndrome de Moebius al nacer, confirmado por neuroimagen en la que se evidencia la ausencia bilateral del nervio facial en ángulos pontocerebelosos, adicionalmente con un defecto completo en los movimientos oculares de abducción y aducción lo que impide el estrabismo convergente común en estos pacientes.

Moebius syndrome is a rare congenital disease characterized by unilateral or bilateral involvement of the VI and VII cranial nerves, which compromises the muscles that control ocular motricity with paralysis in the abduction of the eyeball and the muscles involved in the facial expression. Its clinical presentation and degrees of severity are variable, and it can be symmetric or asymmetric. Additionally, most of the cases are related to language disorders, musculoskeletal and orofacial anomalies. This paper presents the case of a 3-year-old female patient, product of a trigemellar pregnancy with a clinical diagnosis of Moebius syndrome at birth, confirmed by neuroimaging, which shows the bilateral absence of the facial nerve in point-lateral angles. Additionally she has a complete defect in abduction and adduction eye movements, which prevents the common convergent strabismus in these patients.

A síndrome de Moebius é uma doença congênita rara caracterizada pelo envolvimento unilateral ou bilateral dos nervos cranianos VI e VII, que compromete os músculos que controlam a oculomotricidade com paralisia na abdução do globo ocular e dos músculos envolvidos na expressão facial. Sua apresentação clínica e graus de gravidade são variáveis, podendo ser um comprometimento simétrico ou assimétrico. Além disso, a maioria dos casos está relacionada a distúrbios de linguagem, anomalias musculoesqueléticas e orofaciais. Este paper apresenta o caso de uma paciente de 3 anos de idade, fruto de uma gravidez trigêmea com diagnóstico clínico de Síndrome de Moebius ao nascimento, confirmado por neuroimagem em que é evidente a ausência bilateral do nervo facial nos ângulos ponto-cerebelares. Além disso, ela tem um defeito completo nos movimentos oculares de abdução e adução, o que impede o estrabismo convergente comum nesses pacientes.

Esporotricose ocular: manifestações atípicas / Ocular sporotrichosis: atypical manifestations

Resumo A esporotricose humana e animal é uma infecção subaguda a crônica causada pelo fungo dimórfico Sporothrix schenckii. A esporotricose ocular tem ganhado destaque em função da epidemia de esporotricose urbana enfrentada pelo estado do Rio de Janeiro na última década e se apresenta classicamente como conjuntivite granulomatosa, mas formas atípicas podem ocorrer. Este artigo tem por objetivo relatar 2 casos atípicos de esporotricose ocular em pacientes imunocompetentes, ambos apresentando quadro clínico compatível com a síndrome oculoglandular de Parinaud associada à dacriocistite em um caso e presumivelmente à coroidite no outro caso.

Abstract Human and animal sporotrichosis is an infection caused by the dimorphic fungus Sporothrix schenckii, which is classified from subacute to chronic. Ocular sporotrichosis has been highlighted due to the epidemic of urban sporotrichosis faced by the state of Rio de Janeiro in the last decade and presents classically as granulomatous conjunctivitis, but atypical forms may occur. This article aims to report two atypical cases of ocular sporotrichosis in immunocompetent patients, both presenting a clinical picture compatible with Parinaud oculoglandular syndrome associated with dacryocystitis in one case and presumably to choroiditis in the other case.

Parinaud's oculoglandular syndrome and possibly causing cortical cataract / Síndrome oculoglandular de Parinaud como possível causa de catarata cortical

According to the World Health Organization, cataract is the leading cause of blindness and visual impairment throughout the world. However, the etiology of cataracts often remains unknown. This report describes the development of cortical cataract in a patient after Parinaud's oculoglandular syndrome caused by the fungus Sporothrix schenckii.

De acordo com a Organização Mundial de Saúde, a catarata é a principal causa de cegueira e deficiência visual em todo o mundo. No entanto, a etiologia das cataratas frequentemente permanece desconhecida. Este relato descreve o desenvolvimento de catarata cortical em um paciente após Síndrome oculoglandular de Parinaud causada pelo fungo Sporothrix schenckii.

Long-term Follow-up of Acute Isolated Accommodation Insufficiency

PURPOSE: To define the long-term results of accommodation insufficiency and to investigate the correlation between accommodation insufficiency and other factors including near point of convergence (NPC), age, and refractive errors. METHODS: From January 2008 to December 2009, 11 patients with acute near vision disturbance and remote near point of accommodation (NPA) were evaluated. Full ophthalmologic examinations, including best corrected visual acuity, manifest refraction and prism cover tests were performed. Accommodation ability was measured by NPA using the push-up method. We compared accommodation insufficiency and factors including age, refractive errors and NPC. We also investigated the recovery from loss of accommodation in patients. RESULTS: Mean age of patients was 20 years (range, 9 to 34 years). Five of the 11 patients were female. Mean refractive error was -0.6 diopters (range, -3.5 to +0.25 diopters) and 8 of 11 patients (73%) had emmetropia (+0.50 to -0.50 diopters). No abnormalities were found in brain imaging tests. Refractive errors were not correlated with NPA or NPC (rho = 0.148, p = 0.511; rho = 0.319, p = 0.339; respectively). The correlation between age and NPA was not significant (rho = -395, p = 0.069). However, the correlation between age and NPC was negative (rho = -0.508, p = 0.016). Three of 11 patients were lost to follow-up, and 6 of 8 patients had permanent insufficiency of accommodation. CONCLUSIONS: Accommodation insufficiency is most common in emmetropia, however, refractive errors and age are not correlated with accommodation insufficiency. Dysfunction of accommodation can be permanent in the isolated accommodation insufficiency.

Long-term Follow-up of Acute Isolated Accommodation Insufficiency

PURPOSE: To define the long-term results of accommodation insufficiency and to investigate the correlation between accommodation insufficiency and other factors including near point of convergence (NPC), age, and refractive errors. METHODS: From January 2008 to December 2009, 11 patients with acute near vision disturbance and remote near point of accommodation (NPA) were evaluated. Full ophthalmologic examinations, including best corrected visual acuity, manifest refraction and prism cover tests were performed. Accommodation ability was measured by NPA using the push-up method. We compared accommodation insufficiency and factors including age, refractive errors and NPC. We also investigated the recovery from loss of accommodation in patients. RESULTS: Mean age of patients was 20 years (range, 9 to 34 years). Five of the 11 patients were female. Mean refractive error was -0.6 diopters (range, -3.5 to +0.25 diopters) and 8 of 11 patients (73%) had emmetropia (+0.50 to -0.50 diopters). No abnormalities were found in brain imaging tests. Refractive errors were not correlated with NPA or NPC (rho = 0.148, p = 0.511; rho = 0.319, p = 0.339; respectively). The correlation between age and NPA was not significant (rho = -395, p = 0.069). However, the correlation between age and NPC was negative (rho = -0.508, p = 0.016). Three of 11 patients were lost to follow-up, and 6 of 8 patients had permanent insufficiency of accommodation. CONCLUSIONS: Accommodation insufficiency is most common in emmetropia, however, refractive errors and age are not correlated with accommodation insufficiency. Dysfunction of accommodation can be permanent in the isolated accommodation insufficiency.

Synergistic convergence and split pons in horizontal gaze palsy and progressive scoliosis in two sisters.

Synergistic convergence is an ocular motor anomaly where on attempted abduction or on attempted horizontal gaze, both the eyes converge. It has been related to peripheral causes such as congenital fibrosis of extraocular muscles (CFEOM), congenital cranial dysinnervation syndrome, ocular misinnervation or rarely central causes like horizontal gaze palsy with progressive scoliosis, brain stem dysplasia. We hereby report the occurrence of synergistic convergence in two sisters. Both of them also had kyphoscoliosis. Magnetic resonance imaging (MRI) brain and spine in both the patients showed signs of brain stem dysplasia (split pons sign) differing in degree (younger sister had more marked changes).

Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosis / Contribuição adicional das imagens por tensores de difusão em paralisia do olhar conjugado horizontal associada a escoliose progressiva

In two siblings with clinical diagnosis of horizontal gaze palsy associated with progressive scoliosis (HGPPS) we could demonstrate by diffusion tensor imaging: (1) An anterior displacement of the transverse pontine fibers; (2) Posterior clumping of the corticospinal, medial lemniscus and central tegmental tracts and of the medial and dorsal longitudinal fasciculi complex; (3) Absent decussation of superior cerebellar peduncle. Those findings can contribute as surrogate markers for the diagnosis.

Em dois irmãos com diagnóstico clínico de paralisia do olhar conjugado horizontal associada a escoliose progressiva, foi possível determinar através de imagens por tensores de difusão: (1) Deslocamento anterior das fibras pontinas transversas; (2) Agrupamento posterior do trato córtico-espinhal, lemnisco medial e trato tegmentar central e complexos dos fascículos longitudinais medial e dorsal; (3) Ausência da decussação dos pedúnculos cerebelares superiores. Tais achados podem contribuir como marcadores para o diagnóstico.

Botulinum toxin in the management of acquired motor fusion deficiency.

Acquired disruption of motor fusion is a rare condition characterized by intractable diplopia. Management of these patients is extremely difficult. Prisms in any combination or even surgery may not help relieve their symptoms. We describe a longstanding case of acquired motor fusion disruption which was managed successfully with botulinum toxin injection.

Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: a new syndrome complex?

A 15-year-old girl with retinitis pigmentosa, blepharophimosis, blue dot cataract and primary overaction of inferior oblique muscle in both the eyes is being reported. Computerized search using Medline did not reveal any such previously reported association.

Bilateral dissociated vertical deviation in a case of congenital hereditary endothelial dystrophy.

Dissociated vertical deviation (DVD) is an intermittent anomaly of the non-fixing eye. Although association of DVD with sensory visual deprivation owing to congenital or acquired opacities of the ocular media has been reported, its association with congenital hereditary endothelial dystrophy (CHED) has not been reported hitherto. We report a case having a bilateral asymmetric DVD, in a know case of bilateral CHED.

A case of opsoclonus-myoclonus-ataxia with neuroblastoma.

A 2 year old boy presented with features of opsoclonus, myoclonus and ataxia. Routine investigations of blood, urine, x-ray chest, bone scan, EEG and MRI of brain, were normal. Urine for VMA was negative. A right suprarenal mass was detected at MRI of abdomen. The mass was resected completely and was found histologically to be of differentiating type of neuroblastoma. The child was treated initially with prednisolone for 6 weeks along with sodium valproate. He is still on sodium valproate for his neurological symptoms. His symptoms still persist though they have decreased in intensity.

Movimentos oculares de perseguiçäo lenta à prova do rastreio pendular na esclerose múltipla: pesquisa à nistagmografia computadorizada / Ocular movements of a slow pursuit in the pendular scanning test at multiple sclerosis: computerized nystagmography research

A ocorrência de alteraçoes dos movimentos oculares de perseguiçao lenta em pacientes com hipótese diagnóstica de esclerose múltipla foi investigada à prova do rastreio pendular com nistagmografia computadorizada. Verificou-se a alta prevalência de anormalidades associadas ou isoladas da velocidade máxima, ganho, simetria e forma de rastreio pendular, valorizando a contribuiçao do método empregado, para caracterizar alteraçoes importantes e freqüentes dos movimentos oculares de perseguiçao lenta nessa afecçao.

Opsoclonus mioclonus como manifestación a distancia de un neuroblastoma oculto / Opsoclonus myoclonus as distance manifestation of an hidden neuroblastoma

En dos de lactantes mayores con síndrome de opsoclonus mioclonus (ataxia, opsoclonus y polimioclonías), la búsqueda dirigida con métodos de laboratorio e imágenes, permitió detectar sendos ganglioneuroblastomas retroperitoneales en etapas II y III de Evans, repectivamente, uno y doce meses después del inicio de los síntomas neurológicos. Ambos fueron tratados con cirugía y quimioterapia, con regresión del sindrome neurológico y evolución posterior satisfactoria. Se han comunicado alrededor de 110 casos de opsoclonus mioclonus, 50 por ciento de ellos asociados a neuroblastoma oculto. La asociación tiene un pronóstico más favorable que el de otros neuroblastomas. Cuando se identifica el síndrome debe buscarse exhaustivamente el tumor