Trochlear-oculomotor synkinesis: another congenital cranial dysinnervation disorder? / Sincinesia troclear-oculomotora: outro distúrbio congênito de denervação craniana?

ABSTRACT This report documents an unusual phenomenon. A 6-year-old girl with trochlear-oculomotor synkinesis presented with superior oblique and palpebral levator co-contraction. The literature was reviewed and the possibility of classifying this entity as a congenital cranial dysinnervation disorder was speculated.

RESUMO Este relato descreve um fenômeno incomum. Uma menina de 6 anos com sincinesia troclear-oculomotora apresentou co-contração do oblíquo superior e do levantador da pálpebra. A literatura foi revisada e especulou-se a possibilidade de classificar essa desordem como um distúrbio da congenital cranial dysinnervation disorder.

Trochlear-oculomotor synkinesis: another congenital cranial dysinnervation disorder?

This report documents an unusual phenomenon. A 6-year-old girl with trochlear-oculomotor synkinesis presented with superior oblique and palpebral levator co-contraction. The literature was reviewed and the possibility of classifying this entity as a congenital cranial dysinnervation disorder was speculated.

Imaging findings in congenital cranial dysinnervation disorders.

In 2002, the term congenital cranial dysinnervation disorders (CCDDs) was proposed to group heterogeneous syndromes with congenital abnormalities of ocular muscle and facial innervations. The concept of neurogenic etiology has been supported by discovery of genes that are essential to the normal development of brainstem, cranial nerves, and their axonal connections. The CCDDs include Duane retraction syndrome, congenital fibrosis of the extraocular muscles, Möbius syndrome, horizontal gaze palsy with progressive scoliosis, the human homeobox-related disorders, pontine cap tegmental dysplasia, and an expanding list. The purpose of this review was to update the imaging features, as well as clinical and genetic information, regarding cases of CCDDs.

Joubert syndrome: large clinical variability and a unique neuroimaging aspect.

Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. Herein, we report five children, belonging to independent families, with JS: they shared the same typical MRI abnormality, known as molar tooth sign, but had an otherwise quite variable phenotype, regarding mostly their cognitive performance, visual abilities and extra-neurological compromise.

Joubert syndrome: large clinical variability and a unique neuroimaging aspect / Síndrome de Joubert: grande variabilidade clínica e uma neuroimagem característica

Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. Herein, we report five children, belonging to independent families, with JS: they shared the same typical MRI abnormality, known as molar tooth sign, but had an otherwise quite variable phenotype, regarding mostly their cognitive performance, visual abilities and extra-neurological compromise.

A síndrome de Joubert (SJ) é uma doença hereditária, autossômica recessiva, caracterizada por hipotonia, hipoplasia do vermis cerebelar, anormalidades oculares (p.ex., retinite pigmentar, apraxia oculomotora e nistagmo), cistos renais e fibrose hepática. Anormalidades respiratórias tais como apnéia e hiperpnéia podem estar presentes, assim como deficiência mental. Pelo menos sete loci e cinco genes diferentes associados à SJ já foram identificados. Este artigo relata cinco crianças com SJ, pertencentes a diferentes famílias. Todos os pacientes compartilham a mesma anormalidade típica da RM, conhecida como sinal do dente molar, e apresentam ampla variabilidade clínica em relação ao desempenho cognitivo, comprometimento visual e alterações extra-neurológicas.

Resultados en el largo plazo de la tenotomía cercana a la inserción del oblicuo superior en el síndrome de Brown / Results in the long term of thenotomy of superior oblique in the Brown syndrome

Objetivo, Material y Método: Estudiar el efecto a largo plazo de la tenotomía del oblicuo superior (OS) a nivel de la inserción en 2 pacientes. Resultados: El caso N°1 presentaba endohipotropía izquierda, déficit total de la elevación en aducción y downshoot. Se operó a los 6 años: desinserción del OS izquierdo y retroceso de un recto medio. Diecisiete años después tiene microtopía alternante y motilidad prácticamente normal. El caso N°2, con S. de Brown puro, del ojo derecho, se le efectuó tenotomía del OS a 4 mm de su inserción, casi a los 2 años de edad. Trece años más tarde está ortotrópico, con visión binocular incompleta e hiperfunción secundaria del oblicuo inferior, sin significancia clínica. Conclusiones: En los 2 casos la restricción estaba a nivel del tendón del OS. El tratamiento fue exitoso y se fue manifestando gradualmente hasta meses o años después. No hubo necesidad de segunda intervención.