Atresia de coana unilateral: reporte de un caso pediátrico / Unilateral coana atresia. A pediatric case report

La atresia de coanas se caracteriza por la obliteración de la abertura nasal posterior. Es la anomalía congénita más frecuente de las fosas nasales. Tiene una incidencia de 1 cada 5000 a 7000 neonatos, con predominio en el sexo femenino. Puede presentarse en forma aislada o asociada a otros síndromes como el CHARGE (coloboma [C], malformaciones cardíacas [H], atresia de coanas [A], retraso psicomotor y/o en el crecimiento [R], hipoplasia de genitales [G], malformaciones auriculares y/o sordera [E, por su sigla en inglés]). Las manifestaciones clínicas son la obstrucción nasal, cianosis y dificultad respiratoria desde el nacimiento cuando es bilateral. Las atresias unilaterales se caracterizan por insuficiencia ventilatoria nasal y rinorrea unilateral, y pueden pasar inadvertidas. El diagnóstico se realiza mediante endoscopia y estudios por imágenes. El tratamiento es quirúrgico; existen diferentes técnicas y vías de abordaje. Se presenta el caso de un paciente masculino de 7 años con atresia unilateral de coana derecha con resolución microendoscópica, colocación de tutor externo, con buena resolución.

Choanal atresia is characterized by obliteration of the posterior nasal opening. It is the most common congenital anomaly of the nasal passages. It has an incidence of 1 in 5000 to 7000 newborns; predominantly female. It can occur in isolation or in association with other syndromes such as CHARGE (coloboma [C], cardiac malformations [H], choanal atresia [A], psychomotor and/or growth retardation [R], genital hypoplasia [G], atrial malformations and/or deafness [E]. Clinicallypresents nasal obstruction, cyanosis and respiratory distress from birth when bilateral, unilateral atresias are characterized by nasal ventilatory insufficiency and unilateral rhinorrhea, which may go unnoticed. Diagnosis is made by endoscopy and imaging tests. Treatment is surgical, with different techniques and approaches.A 7-year-old male patient is presented with unilateral atresia of the right choana with microendoscopic resolution, placement of an external tutor, with good resolution.

[Unilateral coana atresia. A pediatric case report]. / Atresia de coana unilateral: reporte de un caso pediátrico.

Choanal atresia is characterized by obliteration of the posterior nasal opening. It is the most common congenital anomaly of the nasal passages. It has an incidence of 1 in 5000 to 7000 newborns; predominantly female. It can occur in isolation or in association with other syndromes such as CHARGE (coloboma [C], cardiac malformations [H], choanal atresia [A], psychomotor and/or growth retardation [R], genital hypoplasia [G], atrial malformations and/or deafness [E]. Clinically presents nasal obstruction, cyanosis and respiratory distress from birth when bilateral, unilateral atresias are characterized by nasal ventilatory insufficiency and unilateral rhinorrhea, which may go unnoticed. Diagnosis is made by endoscopy and imaging tests. Treatment is surgical, with different techniques and approaches. A 7-year-old male patient is presented with unilateral atresia of the right choana with microendoscopic resolution, placement of an external tutor, with good resolution.

La atresia de coanas se caracteriza por la obliteración de la abertura nasal posterior. Es la anomalía congénita más frecuente de las fosas nasales. Tiene una incidencia de 1 cada 5000 a 7000 neonatos, con predominio en el sexo femenino. Puede presentarse en forma aislada o asociada a otros síndromes como el CHARGE (coloboma [C], malformaciones cardíacas [H], atresia de coanas [A], retraso psicomotor y/o en el crecimiento [R], hipoplasia de genitales [G], malformaciones auriculares y/o sordera [E, por su sigla en inglés]). Las manifestaciones clínicas son la obstrucción nasal, cianosis y dificultad respiratoria desde el nacimiento cuando es bilateral. Las atresias unilaterales se caracterizan por insuficiencia ventilatoria nasal y rinorrea unilateral, y pueden pasar inadvertidas. El diagnóstico se realiza mediante endoscopia y estudios por imágenes. El tratamiento es quirúrgico; existen diferentes técnicas y vías de abordaje. Se presenta el caso de un paciente masculino de 7años con atresia unilateral de coana derecha con resolución microendoscópica, colocación de tutor externo, con buena resolución.

Iridochorioretinal coloboma associated with buried optic nerve drusen: a case report.

Improper closure of the embryonic fissure results in ocular coloboma. Optic nerve head drusen are hyaline deposits located anterior to the lamina cribosa that grow and calcify over time. It is rarely associated with ocular coloboma, with only two cases reported. We present a patient with an irido-chorioretinal coloboma, poorly defined optic nerve limits in the right eye, and increased papillary vascular ramification and peripapillary atrophy in the left eye, without any visible drusen. Fundus autofluorescence, high-resolution optical coherence tomography, and B-scan ultrasonography confirmed the diagnosis of bilateral buried optic nerve head drusen. The association between irido-chorioretinal colobomas and optic nerve drusen in the absence of a systemic disease is exceptional. Our case demonstrates that multimodal imaging is important to correctly diagnose buried optic nerve head drusen.

Ophthalmological manifestations of the Schuurs-Hoeijmakers syndrome: a case report.

This is a case report of a 2-year-old male patient with cognitive delay, facial abnormalities, and microcornea in the right eye, who was referred for ophthalmological investigation. The initial ophthalmological examination revealed hypertelorism, epicanthus, nystagmus, esotropia, and microcornea in the right eye. The examination under anesthesia revealed microphthalmia in the right eye, and iris, retina, and optic nerve coloboma in both eyes. Whole exome sequencing revealed evidence of a heterozygotic pathogenic variant in PACS1. The PACS1 pathogenic variant in association with the clinical findings confirmed the diagnosis of Schuurs-Hoeijmakers syndrome. To our knowledge, this is the first report to describe microcornea and microphthalmia as additional ocular manifestations of Schuurs-Hoeijmakers syndrome.

Coloboma eyelid in cats - treatment with carbon dioxide cryosurgery

Background: Eyelid colobomas are congenital and developmental disorders. Generally, they affect the temporal portion of the upper eyelids of cats, bilaterally. This ocular defect is accompanied by trichiasis associated with pain and ulcerative keratitis. Any breed can be affected and it has been reported in Domestic Shorthair, Persian, Burmese, Mongrel cats and captive felids. The objective of this case report is to describe the technique of dioxide carbon cryosurgery for the treatment of eyelid coloboma in felines. Cases: Seven mongrel cats (14 eyes) with bilateral eyelid coloboma were included in this study, 5 females and 2 males, with a median age of 5 months (range 6-8 months). The patients presented with blepharospasm, bilateral mucopurulent ocular discharge and eyelid coloboma extension of 30-50% in the upper eyelid, resulting in severe trichiasis of both eyes. In 5 cats, 1 or both eyes were diagnosed with keratitis and superficial corneal ulcers. Surgical treatment with general anaesthesia was applied. The pre anaesthesia protocol included acepromazine 0.05 mg/kg with methadone 0.2 mg/kg, followed by intravenous propofol and maintenance with isoflurane and oxygen. An ophthalmological cryocautery unit was utilised with carbon dioxide as the cryogenic agent and a retinal cryoprobe of 3.2 mm diameter tip, reaching -50ºC for the procedure. The method used was a double cycle of freezing and thawing for 60 s in the margins of eyelid agenesis. Epilation of hairs was made after freezing with eyelash tweezers. Immediately after the surgical procedure, an Elizabethan collar was placed to safeguard the area and anti-inflammatory therapy with meloxicam 0.1 mg/kg once daily for 3 days was prescribed. Antibiotic ointment every 6 h (chloramphenicol and associations) was also prescribed for topical application. Two weeks post-operatively, hyperaemia, oedema and skin wounds at the margins were observed. After 30 days these clinical signs were minimal. No signs of pain were observed post-operatively. The follow-up was 90 days and the trichiasis was resolved in all cats. Discussion: Usually, young cats are affected with eyelid colobomas. The age of the patients in this study was between 6-8 months. Eyelid colobomas are repaired with a variety of blepharoplastic procedures and the choice depends on the size and position of the defect. Generally, larger defects require more extensive reconstructive procedures. All techniques can have post-operative complications. Suture dehiscence, skin flap necrosis and facial deformation can occur with traditional surgical techniques. Furthermore, posterior hair growth in the margins can lead to new trichiasis. Cryosurgery was chosen and performed as the temperature of -20°C is sufficient to destroy hair follicles, without surgical incisions, avoiding scar formation. Hence, sutures are not necessary in cryosurgery procedures. Carbon dioxide is a good cryogenic agent for the purpose of this procedure. In the cases described, no recurrence of hair growth was observed in the follow-up period of 90 days. Nevertheless, a good aesthetic appearance was maintained. Therefore, the use of carbon dioxide cryosurgery is an effective and safe alternative for treatment of eyelid coloboma in cats. To our knowledge, no paper has described the use of carbon dioxide cryosurgery for the correction of palpebral agenesis in felines and other species as a single treatment. This technique is easy to perform, has good aesthetic and functional results and can be considered a treatment option for this congenital condition.

Mosaic cat eye syndrome in a child with unilateral iris coloboma.

BACKGROUND: Cat eye syndrome (CES) is a rare chromosomal disorder with a known incidence of 1 per 50,000-150,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients. In addition, other ocular malformations and systemic defects can be present. The aim of this report is to present a patient with unilateral iris coloboma related to a mosaicism of cat eye syndrome. METHODS: A complete ophthalmological and systemic evaluation was performed in a three-year-old male. He also underwent a standard karyotype and FISH analysis with a probe against the 22q11.2 locus. RESULTS: The ophthalmological and systemic evaluation revealed a unilateral iris coloboma and ipsilateral auricular malformations. Karyotype analysis of blood leukocytes indicated the presence of a marker chromosome in 6% of the analyzed cells. FISH analysis showed three positive signals in 5.5% of the analyzed nucleus. CONCLUSION: This patient presented two of the three classic manifestations of CES; interestingly, they were unilateral. The 22q11 duplication was identified by standard karyotype and confirmed with FISH. The present case demonstrates the importance of conducting a multidisciplinary approach in patients with congenital malformations associated with known syndromes.

Cirurgia corretiva para coloboma palpebral em um felino através da técnica de transposição da comissura labial / Corrective surgery for palpebral coloboma in a feline using the technique of transposition of the lip commissure

Background: Eyelid coloboma is considered a disease caused by failure in eye development during the first semester of pregnancy. In felines, its prevalence occurs in the upper eyelids, temporal region, and bilaterally. Coloboma, whether to a large or small extent, can lead to keratoconjunctivitis sicca and trichiasis, situations that can give rise to secondary ulcerative keratitis. The only corrective method is blepharoplasty. The current work aims to report the case of corrective surgery for eyelid coloboma in a feline with a successful postoperative period, in order to corroborate the effectiveness of the technique. We also report a finding of persistent pupillary membrane. Case: A 7-month-old male feline, no defined breed, was analyzed with a purulent mucus secretion and signs of discomfort in the right eye. After the ophthalmic screening, the presence of a coloboma was identified, which occupied approximately 50% of the size of the upper eyelid, in the temporal-dorsal region of the right eye. The cat had already undergone an enucleation of the left eye due to a perforation arising from ulcerative keratitis. Together with coloboma, the presence of blepharospasm, trichiasis, keratoconjunctivitis sicca, and secondary ulcerative keratitis were diagnosed. The presence of persistent pupillary membrane was also observed, a rare condition in the feline species. To confirm the ulcer, the fluorescein test was applied and treatment with antibiotic eye drops and lacrimomimetics (tear film replacements) drops was administered until the day of surgery, one week later. Concomitant with the institution of treatment prior to surgery, blood was collected for complementary pre-surgical tests such as blood count and biochemistry, which demonstrated satisfactory results. Corrective surgery was then instituted by the technique of transposing the labial commissure...

Estafiloma peripapilar, presentación clínica y diagnósticos diferenciales en anomalías congénitas de nervio óptico / Peripapillary staphyloma, clinical presentation, and differential diagnoses in congenital optic nerve anomalies

Un paciente de 3 meses con sospecha de estrabismo presenta al examen una gran anisometropía con -9.50 esfera en su ojo izquierdo y al fondo de ojo destaca una papila alterada similar a la papila de Morning-Glory. Las anomalías congénitas de nervio óptico (ACNO) son un grupo de condiciones que se presentan clínicamente como baja agudeza visual, estrabismo y/o nistagmus. El diagnóstico dife-rencial es clínico y complejo por la sobre posición morfológica entre estas. Los principales diagnósticos diferenciales son la papila deMorning-Glory, el coloboma y la hipoplasia de nervio óptico. Se recomienda manejo multidisciplinario por sus asociaciones sistémicas.

A 3-month-old patient with a suspicion of strabismus on examination has a great anisometropia with -9.50 sphere in his left eye and at the fundus examination an altered papilla similar to the Morning-Glory papilla. Congenital optic nerve abnormalities (ANOC) are a group of conditions that present clinically as low visual acuity, strabismus, and nystagmus. The differential diagnosis is clinical and complex due to the morphological position between them. The main differential diagnoses are the Morning-Glory papilla, the coloboma, and optic nerve hypoplasia. Multidisciplinary management is recommended for its systemic associations.

The Canabrava Ring, an open ring-shaped pupil expander for cataract surgery associated with iris colobomata: a case report / Aplicação de anel expansor de pupila pequena em formato de anel aberto para cirurgia de catarata em coloboma de íris: relato de caso

ABSTRACT In this report, we describe a new pupil expander device that was used to obtain adequate pupil dilation and centering in a patient with an iris coloboma. Specifically, we describe the case of a patient with an iris coloboma; a Malyugin ring was inserted to facilitate dilation during phacoemulsifi­cation surgery. One of the scrolls did not engage which resulted in an uneven distribution of forces and an eccentric pupil. A Canabrava Ring was then implanted that promoted effective pupillary dilation and remained stable and effective throughout the surgical procedure.

RESUMO Neste relato, descrevemos um novo dispositivo expansor pupilar que foi usado obter adequada dilatação e centralização da pupila em um paciente com coloboma de íris. Especificamente, descrevemos um caso de cirurgia de facoemulsificação em um paciente com coloboma de íris associado à pupila pequena e que, previamente, tentou-se sem sucesso o uso do expansor Malyugin Ring, que provocou uma dilatação pupilar descentrada. Entretanto, com o uso do expansor de íris Canabrava Ring, a pupila permaneceu dilatada e centrada durante toda a cirurgia, permitindo a realização de um procedimento seguro.

The Canabrava Ring, an open ring-shaped pupil expander for cataract surgery associated with iris colobomata: a case report.

In this report, we describe a new pupil expander device that was used to obtain adequate pupil dilation and centering in a patient with an iris coloboma. Specifically, we describe the case of a patient with an iris coloboma; a Malyugin ring was inserted to facilitate dilation during phacoemulsifi-cation surgery. One of the scrolls did not engage which resulted in an uneven distribution of forces and an eccentric pupil. A Canabrava Ring was then implanted that promoted effective pupillary dilation and remained stable and effective throughout the surgical procedure.

Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report.

BACKGROUND: 22q11.2 duplication syndrome (Dup22q11.2) has reduced penetrance and variable expressivity. Those affected may have intellectual disabilities, dysmorphic facial features, and ocular alterations such as ptosis, hypertelorism, nystagmus, and chorioretinal coloboma. The prevalence of this syndrome is unknown, there are only approximately 100 cases reported. However Dup22q11.2 should have a similar prevalence of DiGeorge syndrome (1 in each 4000 new-borns), in which the same chromosomal region that is duplicated in Dup22q11.2 is deleted. CASE PRESENTATION: We report a patient with intellectual disability, psychomotor development delay, hearing loss with disyllable pronunciation only, hyperactivity, self-harm, hetero-aggressive behaviour, facial dysmorphism, left facial paralysis, post-axial polydactyly, and for the first time in patients with Dup22q11.2, optic nerve coloboma and dysplasia in optic nerve. Array comparative genomic hybridization showed a 22q11.23 duplication of 1.306 million base pairs. CONCLUSIONS: New ocular findings in Dup22q11.2 syndrome, such as coloboma and dysplasia in the optic nerve, are reported here, contributing to the phenotypic characterization of a rarely diagnosed genetic syndrome. A complete characterization of the phenotype is necessary to increase the rate of clinical suspicion and then the genetic diagnostic. In addition, through bioinformatics analysis of the genes mapped to the 22q11.2 region, it is proposed that deregulation of the SPECC1L gene could be implicated in the development of ocular coloboma.

Coloboma del iris, presentación de caso / Iris coloboma, case presentation

Introducción: el coloboma es un defecto congénito del sector inferior del iris o bien, una escotadura en el margen pupilar que otorga a la pupila un aspecto de cerradura. Presentación del caso: se presenta el caso de un paciente masculino de 53 años de edad con diagnóstico clínico de coloboma del iris en el cuadrante inferotemporal izquierdo. Discusión: el coloboma del iris, es hasta la actualidad una condición rara con una incidencia de 2.4-8.0/10,000 nacidos vivos. La mayoría de las causas de este tipo de coloboma es desconocida, y ocasionalmente puede producirse debido a cirugía del ojo, traumatismo del ojo, afecciones hereditarias, algunos se deben a un defecto genético específico y un pequeño número de pacientes con coloboma tiene otros problemas hereditarios del desarrollo. Conclusiones: el coloboma del iris es una entidad poco frecuente, de diagnóstico casual, que suele ser asintomática; es importante al hacer el diagnóstico, realizar un examen físico bien detallado en el paciente para descartar síndromes asociados a esta malformación congénita(AU)

Introduction: the coloboma is a birth defect of the lower sector of the iris or a neckline in the pupil margin that gives the pupil a locking appearance. Case presentation: The case of a 53-year-old male patient with clinical diagnosis of iris coloboma in the left infernotemporal quadrant is presented. Discussion: the coloboma of the iris, is to present a rare condition with an incidence of 2.4-8.0/10,000 live births. Most of the causes of this type of coloboma are unknown, and can occasionally occur due to eye surgery, eye trauma, hereditary conditions, some are due to a specific genetic defect and a small number of patients with coloboma have other hereditary developmental problems. Conclusions: iris coloboma is a rare, casually diagnosed entity that is usually asymptomatic; it is important when making the diagnosis, performing a thorough physical exam on the patient to rule out syndromes associated with this congenital malformation(EU)

Exame ultrassonográfico no diagnóstico de coloboma retinocoroidiano bilateral / Ultrasonographic examination in the diagnosis of bilateral retinochoroid coloboma

Resumo Relatamos aqui o caso de E.R.S.S., feminino, 43 anos, diagnosticada com coloboma de retina e coroide bilateral, afim de enfatizar a importância dos exames pré-operatórios, até mesmo de uma boa tomada de projeção luminosa, a qual está sendo muitas vezes relegada a um patamar desprezível dentro da prática oftalmológica. Salientamos também que o exame ultrassonográfico prévio à indicação cirúrgica é de suma importância, no entanto, esse deve ser realizado por profissional experiente e sua correta interpretação deve ser exaustivamente procurada para que erros interpretativos não se transformem em conduta clínico cirúrgica inadequada e consequentes danos, muitas vezes, irreparáveis. Considerando-se todos os aspectos e complicações do coloboma já citados nesse relato, a conduta diante de um diagnóstico dessa malformação deve ser: pesquisar associação com outras doenças oculares e/ou sistêmicas (CHARGE: coloboma, cardiopatia congênita, atresia de coana com múltiplas anomalias), realizar tratamento e acompanhamento em caso de complicações (Ex. descolamento de retina, ambliopia e estrabismo) e prevenção é feita através de aconselhamento genético.

Abstract We report here the case of E.R.S.S. female, 43 years old, diagnosed with bilateral coloboma of choroid and retina, in order to emphasize the importance of preoperative exams, even a good shot of light projection, which is often being relegated to a negligible level in ophthalmological practice.We emphasize also that the ultrasound examination prior to the surgical indication is of paramount importance, however,this should be performed by experienced professional and the correct interpretation must be thoroughly searched for interpretative errors not become inadequate surgical clinical conduct and consequential irreparable damage. Considering all aspects and complications already mentioned in this report, coloboma to conduct before a diagnosis of this malformation should be: search for association with other eye diseases and/or systemic (CHARGE: coloboma, congenital heart defect, atresia of posterior nasal apertures with multiple anomalies), performing and monitoring treatment in case of complications (E.g. retinal detachment, amblyopia and strabismus) and prevention is made through genetic counseling.

Sensitivity and specificity of the red reflex in Costa Rican newborns. / Sensibilidad y especificidad del reflejo rojo en recién nacidos en Costa Rica.

OBJECTIVE: To compare the results of indirect ophthalmoscopy versus determination of the red reflex in newborns admitted to the intermediate neonatal intensive care unit. METHODS: All the patients (71) admitted to the intermediate neonatal intensive care unit from July to September of 2017 were screened with the red reflex. Immediately afterwards, they were pharmacologically dilated and indirect ophthalmoscopy was performed. All of the red-reflex screening and the funduscopic examination were performed by the same evaluator. RESULTS: A total of 14.1% (20/142) of the eyes had an altered red reflex. Indirect ophthalmoscopy revealed that 21.8% (31/142) of the eyes had intraocular abnormalities. Two of these eyes had optic nerve colobomas, two eyes had cataracts, and the rest had intra-retinal haemorrhages. Indirect ophthalmoscopy revealed that only 35% (7/20) of the eyes with an altered red reflex had intraocular disease. Indirect ophthalmoscopy also revealed that intraocular disease was present in 77.4% (24/31) of the eyes despite a normal red reflex. The false positive rate of the red reflex was calculated to be 9.2%, and the false negative rate was 16.9%. The sensitivity of the red reflex was only 56.4%, and the specificity was 89.5%. The positive predictive value was 70.4%, and the negative predictive value was 82.2%. CONCLUSIONS: Neonatal screening with the red reflex is not sufficient to detect intraocular disease. A normal neonatal red reflex does no exclude intraocular disease. It has a specificity of nearly 90%, but its sensitivity is only 56%. Most retinal haemorrhages are undiagnosed as they cannot be detected with a red reflex.

Lensectomía refractiva en coloboma de iris / Refractive lensectomy for iris coloboma

RESUMEN El coloboma de iris es un defecto congénito, que se describe como un orificio, fisura o hendidura en dicha estructura.​ Esta condición tiene la posibilidad de ser hereditaria o aparecer sin historia familiar previa. Se presenta un caso de un paciente de 51 años de edad con coloboma bilateral de iris asimétrico e hipermetropía, quien acudió a la consulta médica con el deseo de independizarse de su corrección óptica habitual. Se propuso cirugía facorrefractiva de ambos ojos con pupiloplastia del ojo derecho, en el que se obtuvieron resultados visuales satisfactorios después de la intervención quirúrgica(AU)

ABSTRACT The iris coloboma is a congenital defect, present since birth, which is described as a hole, fissure or cleft in the mentioned structure. This condition has the possibility of being inherited or can appear without previous family history. The case is presented of a 51-year-old patient with bilateral asymmetric iris coloboma and farsightedness. The patient went to the doctor's office with the desire to become independent of his usual optical correction. Facorrefractive surgery of both eyes with pupilloplasty of the right eye was proposed, in which satisfactory visual results were obtained after the intervention(AU)

A hybrid coloboma and optic disc pit associated with macular retinoschisis.

BACKGROUND: To report and describe an unusual case of a patient with optic disc pit in one eye and optic disc coloboma with a focal pit associated with macular retinoschisis in the other eye. CASE PRESENTATION: A 21-year-old woman presented with optic disc pit in the right eye and optic disc coloboma with a focal pit like excavation in the left eye. Macular spectral domain optical coherence tomography (SD-OCT) of the left eye revealed macular retinoschisis, without serous detachment. CONCLUSIONS: Proper monitoring of patients with disc anomalies associated with maculopathy is mandatory. The use of OCT imaging during follow-up can help to identify involvement of the fovea or enlargement of the retinoschisis area.

Psychological and cognitive evaluation of autism in a patient with MOMO syndrome: a case report and literature review. / Evaluación psicológica y cognitiva de autismo en un paciente con síndrome de MOMO: reporte de caso y revisión de la literatura.

MOMO is an acronym for macrosomia, obesity, macrocephaly and ocular abnormalities. The syndrome was first described in 1993, with a total of nine patients published thus far. All the cases presented intellectual disability and in one case autism was described. We present a new case of a patient with MOMO syndrome, who consulted for hallucinatory phenomena. He completed a neuropsychological, clinical and cognitive evaluation, showing a borderline intelligence quotient and fulfilled the criteria for autism spectrum disorder. This is the first neurocognitive evaluation of a patient with MOMO, supporting the use of standardized scales in order to assess the autism and other psychiatric comorbidities in patients with genetics syndromes.

MOMO es un acrónimo para los términos macrosomía, obesidad, macrocefalia y anomalías oculares. El síndrome fue descrito por primera vez en 1993, con un total de nueve pacientes publicados a la fecha. Todos los casos reportaron discapacidad intelectual y en un caso se describió a un paciente con autismo. Presentamos un nuevo caso de paciente con síndrome de MOMO que consultó por fenómenos alucinatorios. Se completó una evaluación neuropsicológica, clínica y cognitiva, en donde se demostró un cociente intelectual limítrofe y se corroboraron los criterios para trastorno del espectro autista. Ésta es la primera evaluación neurocognitiva de un paciente con MOMO, la que apoya el uso de escalas estandarizadas a fin de evaluar el autismo y otras comorbilidades psiquiátricas en pacientes con síndromes genéticos.