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Horizontal gaze palsy and progressive scoliosis in a patient with congenital esotropia and inability to abduct. A case report
Parálisis de la mirada horizontal y escoliosis progresiva en un paciente con endotropia congénita y limitación de abducción. A propósito de un caso
A. Fernández-Vega Cueto
, J.J. Rodríguez-Ezcurra, I. Rodríguez-Maiztegui
Corresponding author
Unidad de Estrabismo y Visión Binocular, Centro de Oftalmología Barraquer, Barcelona, Spain
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"apellidos" => "Navarro Mingorance" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0365669116001301" "doi" => "10.1016/j.oftal.2016.02.024" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0365669116001301?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173579416301025?idApp=UINPBA00004N" "url" => "/21735794/0000009100000012/v1_201612011629/S2173579416301025/v1_201612011629/en/main.assets" ] "en" => array:20 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Short communication</span>" "titulo" => "Horizontal gaze palsy and progressive scoliosis in a patient with congenital esotropia and inability to abduct. A case report" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "592" "paginaFinal" => "595" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "A. Fernández-Vega Cueto, J.J. Rodríguez-Ezcurra, I. Rodríguez-Maiztegui" "autores" => array:3 [ 0 => array:4 [ "nombre" => "A." "apellidos" => "Fernández-Vega Cueto" "email" => array:1 [ 0 => "afvega89@gmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "J.J." "apellidos" => "Rodríguez-Ezcurra" ] 2 => array:2 [ "nombre" => "I." "apellidos" => "Rodríguez-Maiztegui" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Unidad de Estrabismo y Visión Binocular, Centro de Oftalmología Barraquer, Barcelona, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "<span class="elsevierStyleItalic">Corresponding author</span>." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Parálisis de la mirada horizontal y escoliosis progresiva en un paciente con endotropia congénita y limitación de abducción. A propósito de un caso" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0025" "etiqueta" => "Fig. 5" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr5.jpeg" "Alto" => 280 "Ancho" => 929 "Tamanyo" => 43329 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">Postop image showing clear improvement of horizontal torticollis.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Horizontal gaze palsy and progressive scoliosis (HGPPS) is an infrequent ocular motility alteration characterized by the absence of horizontal conjugate movements, preserving vertical gaze and developing early onset progressive scoliosis.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1–3</span></a> It is caused by mutations in the ROBO3 gene<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> that plays a crucial role in neuron migration during the development of the central nervous system.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> The case of a child with congenital esotropia with abduction limitation (ABD) and cross fixation with HGPPS diagnostic confirmed by genetic study is presented.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Clinic case report</span><p id="par0010" class="elsevierStylePara elsevierViewall">Male, age 4, referred to our Dept. due to congenital esotropia with ABD limitation, horizontal torticollis with cross fixation and early onset thoracolumbar scoliosis. Personal history included birth on term with controlled gestation, endocrine-metabolic screening and normal psychomotor development. Relevant family history includes progenitor consanguinity as well as 2 cousins affected by undetermined strabismus.</p><p id="par0015" class="elsevierStylePara elsevierViewall">Examination revealed esotropia of 35–40 prismatic diopters in primary gaze position (PGP), with marked ABD limitation in both eyes (BE) (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>) and horizontal torticollis with cross fixation (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>). Refraction with cycloplegia was performed (1% cyclopentolate) that evidenced a sphere of +0.75 in BE. ABD was not obtained after monocular occlusion or with vestibulo-ocular reflex exploration. Vertical versions and ductions as well as convergence were preserved. In addition, there was no ocular globe retraction, anomalous vertical movements, synkinetic changes or involvement of other cranial pairs. Visual acuity was 0.6 in BE, without significant refractive error. Neither biomicroscopy or funduscopic examination revealed relevant pathological findings.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">The study was completed with spinal column X-ray (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>) that confirmed the presence of thoracolumbar scoliosis, and cranial magnetic resonance which evidenced hypoplastic spinal cord with butterfly configuration.</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">Considering the clinic and neuro-radiological findings, a genetic study was requested. Direct sequencing of ROBO3 gene revealed homozygote c.1158GC mutation, which confirmed the HGPPS diagnostic.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Due to the large PGP esotropia and the severe torticollis exhibited by the patient, surgical treatment was performed with modification of both middle rectus (MR) at 5.5<span class="elsevierStyleHsp" style=""></span>mm. Intra-surgery findings included positive (+++) forced duction test (FDT) in ABD in BE, as well as fibrotic appearance of both MR, confirmed with the Queré elongation test. Immediate postop showed a clear PGP deviation improvement of 50%, as well as horizontal torticollis (<a class="elsevierStyleCrossRefs" href="#fig0020">Figs. 4 and 5</a>), with persistence of residual 15–20 prismatic diopters of esotropia in primary gaze.</p><elsevierMultimedia ident="fig0020"></elsevierMultimedia><elsevierMultimedia ident="fig0025"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Discussion</span><p id="par0035" class="elsevierStylePara elsevierViewall">HGPPS is part of the congenital cranial dysinnervation disorders (CCDDs) that include a heterogeneous group of congenital nonprogressive innervation anomalies of the facial and ocular muscles. This is an infrequent autosomic recessive disorder characterized by the absence of conjugate horizontal movements and the development of early onset, rapidly progressing scoliosis.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1–3</span></a> Typically, vertical versions and convergence are preserved. Additional ophthalmological signs include nystagmus, generally pendular and horizontal, and asynchronous blinking, although this sign was not expressed in the present case.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a> The literature describes cases with cognitive retard, although the majority of patients exhibit normal neurological and psychomotor development.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> Characteristic neuro-radiological findings include brainstem hypoplasia with diminished protuberance and medulla volume, absence of facial colliculus and butterfly configuration of the medulla.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">The phenotype is caused by mutations in the ROBO3<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> gene, involved in the decussation of the corticospinal and somatosensory neuronal tracts during the development of the central nervous system.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> This axonal guide failure would account for the absence of horizontal movements exhibited by these patients. The mechanism through which said mutation causes progressive scoliosis is unknown, although it has been proposed that it could be secondary to anatomic and functional anomalies in the Pontine reticular formation or a musculoskeletal dysfunction secondary to the alteration in the ROBO3 gene.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">In the present patient, abduction was not achieved after monocular occlusion or doll eye maneuver or vestibulo-ocular reflex. Accordingly, disorders causing apparent abduction deficit such as congenital esotropia or the Ciancia syndrome were discarded. Differential diagnostic<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a> had to be carried out vis-à-vis entities with actual abduction deficit, which includes the cranial dysennervation syndromes and VI pair palsy. The patient did not associate ocular globe retraction in adduction or anomalous vertical movements <span class="elsevierStyleItalic">(up-shoot, down-shoot)</span> that are characteristic of the Duane syndrome, or the characteristic facial palsy of the Möebius syndrome. The absence of vertical gaze involvement would also exclude congenital fibrosis of extraocular muscles,<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> therefore leading to suspected HGPPS or VI cranial pair palsy. In order to study the clinic, spinal X-ray and cranial magnetic resonance were requested.</p><p id="par0050" class="elsevierStylePara elsevierViewall">In these cases, surgical treatment aims at achieving the maximum possible horizontal alignment in PGP as well as improving torticollis. The surgical approach and technique must be individualized on the basis of the intra-surgery findings, the FDT and the muscle elongation test.</p><p id="par0055" class="elsevierStylePara elsevierViewall">By way of conclusion, HGPPS must be included in the differential diagnostic of infantile esotropia with cross fixation and abduction disability. Early diagnostic can be obtained with the genetic study of the ROBO3 gene.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Conflict of interests</span><p id="par0060" class="elsevierStylePara elsevierViewall">No conflict of interests was declared by the authors.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:9 [ 0 => array:3 [ "identificador" => "xres764843" "titulo" => "Abstract" "secciones" => array:2 [ 0 => array:2 [ "identificador" => "abst0005" "titulo" => "Case report" ] 1 => array:2 [ "identificador" => "abst0010" "titulo" => "Discussion" ] ] ] 1 => array:2 [ "identificador" => "xpalclavsec766272" "titulo" => "Keywords" ] 2 => array:3 [ "identificador" => "xres764842" "titulo" => "Resumen" "secciones" => array:2 [ 0 => array:2 [ "identificador" => "abst0015" "titulo" => "Caso clínico" ] 1 => array:2 [ "identificador" => "abst0020" "titulo" => "Discusión" ] ] ] 3 => array:2 [ "identificador" => "xpalclavsec766273" "titulo" => "Palabras clave" ] 4 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 5 => array:2 [ "identificador" => "sec0010" "titulo" => "Clinic case report" ] 6 => array:2 [ "identificador" => "sec0015" "titulo" => "Discussion" ] 7 => array:2 [ "identificador" => "sec0020" "titulo" => "Conflict of interests" ] 8 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2016-02-19" "fechaAceptado" => "2016-05-03" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec766272" "palabras" => array:5 [ 0 => "Horizontal gaze palsy" 1 => "Scoliosis" 2 => "Cross-fixation" 3 => "HGPPS" 4 => "ROBO3" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec766273" "palabras" => array:5 [ 0 => "Parálisis de la mirada horizontal" 1 => "Escoliosis" 2 => "Fijación cruzada" 3 => "HGPPS" 4 => "ROBO3" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:3 [ "titulo" => "Abstract" "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Case report</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">The case is presented on a 4-year-old child with congenital esotropia, limitation of abduction, cross-fixation, and thoracolumbar scoliosis. Genetic testing of ROBO3 gene confirmed the diagnosis of horizontal gaze palsy and scoliosis (HGPSS).</p></span> <span id="abst0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Discussion</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">HGPPS is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and progressive scoliosis developed in childhood and adolescence. We highlight this motility disorder as a part of the differential diagnosis of early childhood esotropia with cross-fixation and limitation of abduction.</p></span>" "secciones" => array:2 [ 0 => array:2 [ "identificador" => "abst0005" "titulo" => "Case report" ] 1 => array:2 [ "identificador" => "abst0010" "titulo" => "Discussion" ] ] ] "es" => array:3 [ "titulo" => "Resumen" "resumen" => "<span id="abst0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Caso clínico</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Presentamos el caso de un paciente varón de 4 años de edad, remitido por endotropia congénita con limitación de abducción, tortícolis horizontal con fijación cruzada y escoliosis toraco-lumbar. El análisis genético del gen ROBO3 confirmó el diagnóstico de parálisis de la mirada horizontal y escoliosis progresiva (HGPPS).</p></span> <span id="abst0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Discusión</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">La HGPPS es una alteración infrecuente de la motilidad ocular, caracterizada por ausencia de movimientos conjugados horizontales y escoliosis progresiva de inicio precoz. Esta entidad debe ser considerada como parte del diagnóstico diferencial de la endotropia congénita con fijación cruzada e incapacidad de abducción.</p></span>" "secciones" => array:2 [ 0 => array:2 [ "identificador" => "abst0015" "titulo" => "Caso clínico" ] 1 => array:2 [ "identificador" => "abst0020" "titulo" => "Discusión" ] ] ] ] "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Fernández-Vega Cueto A, Rodríguez-Ezcurra JJ, Rodríguez-Maiztegui I. Parálisis de la mirada horizontal y escoliosis progresiva en un paciente con endotropia congénita y limitación de abducción. A propósito de un caso. Arch Soc Esp Oftalmol. 2016;91:604–607.</p>" ] ] "multimedia" => array:5 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 316 "Ancho" => 929 "Tamanyo" => 31005 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Pre-surgery condition of the patient with large angle ET in PGP, bilateral ABD limitation with preserved vertical gaze.</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 878 "Ancho" => 1654 "Tamanyo" => 256648 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Marked horizontal torticollis with cross fixation after surgery.</p>" ] ] 2 => array:7 [ "identificador" => "fig0015" "etiqueta" => "Fig. 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 936 "Ancho" => 940 "Tamanyo" => 52120 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Spinal X-ray showing thoracolumbar scoliosis.</p>" ] ] 3 => array:7 [ "identificador" => "fig0020" "etiqueta" => "Fig. 4" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr4.jpeg" "Alto" => 834 "Ancho" => 1654 "Tamanyo" => 242148 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">Motor examination in the immediate postop, showing improved ET in PGP.</p>" ] ] 4 => array:7 [ "identificador" => "fig0025" "etiqueta" => "Fig. 5" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr5.jpeg" "Alto" => 280 "Ancho" => 929 "Tamanyo" => 43329 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">Postop image showing clear improvement of horizontal torticollis.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0035" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "K.K. 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