ABSTRACT
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.
Subject(s)
Humans , Female , Child , Ocular Motility Disorders/congenital , Cranial Nerves/abnormalities , Trochlear Nerve Diseases/congenital , Synkinesis/congenital , Oculomotor Muscles/innervation , Ocular Motility Disorders/classification , Ocular Motility Disorders/pathology , Trochlear Nerve Diseases/classification , Trochlear Nerve Diseases/pathology , Rare Diseases , Synkinesis/classification , Synkinesis/pathology , Eyelids/abnormalitiesABSTRACT
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.
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Male , Cerebellum/abnormalities , Intellectual Disability , Kidney Diseases/pathology , Ocular Motility Disorders/pathology , Cerebellum/pathology , Kidney Diseases/congenital , Kidney Diseases/genetics , Magnetic Resonance Imaging , Ocular Motility Disorders/congenital , Ocular Motility Disorders/genetics , SyndromeABSTRACT
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.
Subject(s)
Humans , Male , Oculomotor Muscles/surgery , Ocular Motility Disorders/surgery , Ocular Motility Disorders/congenital , Postoperative Complications/etiology , Strabismus/surgeryABSTRACT
Congenital ocular motor apraxia (COA), first described by Cogan in 1953, is a rare disorder which shows characteristic defects of the horizontal voluntary saccades, and compensatory head thrust. Until now, most cases have showed a presumably congenital origin, bilaterality, and a tendency to various stages of recovery with aging. But the cause and mechanism of COA are not completely known. Occasionally, it combines with other neurologic abnormalities and metabolic diseases such as Gaucher's disease exhibit similar clinical characteristics to COA. We recently experienced a case of a 3-year-old girl who showed the clinical features of unilateral congenital ocular motor apraxia.