Utilidad de la técnica de MS-MLPA en el diagnóstico de los síndromes de Beckwith-Wiedemann y Silver-Russell / Usefulness of the MS-MLPA technique in the diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome

Resumen Introducción: Las alteraciones epigenéticas y genómicas de la región improntada 11p15.5 producen crecimiento excesivo o deficiente, que se manifiesta como síndrome de Beckwith-Wiedemann o síndrome de Silver-Russell, respectivamente. Objetivo: Evaluar la técnica de análisis de metilación MLPA (MS-MLPA, methylation-specific multiplex ligation-dependent probe amplification) en el diagnóstico de los síndromes de Beckwith-Wiedemann y de Silver-Russell. Métodos: Se evaluó la metilación y las variantes de 11p15.5 en pacientes con diagnóstico clínico de síndrome de Beckwith-Wiedemann y síndrome de Silver-Russell mediante la técnica MS-MLPA en ADN de sangre periférica. Resultados: Se identificó disomía uniparental paterna y pérdida de metilación del IC2 materno en dos pacientes con síndrome de Beckwith-Wiedemann, quienes presentaron onfalocele y macroglosia, respectivamente. Se registró hipometilación paterna del IC1 en dos pacientes con síndrome de Silver-Russell de fenotipo clásico. Conclusiones: Se observó adecuada correlación genotipo-fenotipo con los defectos de metilación encontrados, lo que confirma la utilidad del MLPA como estudio de primera línea en pacientes con diagnóstico de síndrome de Beckwith-Wiedemann y síndrome de Silver-Russell.

Abstract Introduction: Epigenetic and genomic imprinting alterations of the 11p15.5 region cause excessive or deficient growth, which result in Beckwith-Wiedemann syndrome (BWS) or Silver-Russell syndrome (SRS), respectively. Objective: To evaluate the methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) methylation analysis technique in the diagnosis of BWS and SRS. Methods: 11p15.5 methylation and variants were evaluated in patients with clinical diagnosis of BWS and SRS using the MS-MLPA technique in peripheral blood DNA. Results: Paternal uniparental disomy and loss of maternal IC2 methylation were identified in two patients with BWS who had omphalocele and macroglossia, respectively. Paternal IC1hypomethylation was recorded in two patients with SRS of classic phenotype. Conclusions: Adequate genotype-phenotype correlation was observed with the methylation defects that were identified, which confirms the usefulness of MLPA as a first-line study in patients diagnosed with BWS and SRS.

Síndrome de Silver-Russell: Características clínicas, de neurodesenvolvimento e comunicação: Estudo de casos clínicos / Silver-Russell syndrome: clinical, neurodevelopmental and communication characteristics: clinical case studies

RESUMO A Síndrome de Silver Russel (SSR) é uma condição geneticamente heterogênea com fenótipo clínico que inclui restrição do crescimento intrauterino e pós-natal, alterações craniofaciais, assimetrias corporais, baixo índice de massa corporal e dificuldades alimentares. Há expectativa de alterações do desenvolvimento motor, da coordenação global e de fala. O presente estudo tem como objetivo apresentar características da síndrome, do neurodesenvolvimento e comunicação de três crianças do sexo masculino, com diagnóstico da síndrome, na faixa etária de 16, 18 e 44 meses, respectivamente. Cumpriram-se os critérios éticos. Foi realizada análise de prontuário, com objetivo de coletar informações da anamnese realizada com os responsáveis, e da avaliação realizada com as crianças. A avaliação foi realizada por meio da aplicação dos seguintes instrumentos: Observação do Comportamento Comunicativo (OCC), Teste de Screening de Desenvolvimento Denver-II (TSDD-II) e o Early Language Milestone Scale (ELMS). O levantamento de características confirmou a hipótese da SSR; na OCC verificou-se atraso nos comportamentos comunicativos para todos os participantes; no TSDD-II verificou-se atraso nas habilidades motora grossa, motora fina-adaptativa, linguagem e pessoal social. Na ELM verificou-se escores aquém do esperado para as funções auditiva receptiva e auditiva expressiva com habilidades receptivas mais desenvolvidas do que as habilidades expressivas. A SSR merece ser reconhecida pela comunidade científica, uma vez que as características fenotípicas e os dados de vida pregressa, possibilitam que seja levantada a hipótese da síndrome, visando o diagnóstico correto precocemente e um planejamento terapêutico que minimize os efeitos deletérios desta condição.

ABSTRACT Silver Russell Syndrome (SRS) is a genetically heterogeneous condition with a clinical phenotype that includes intrauterine and postnatal growth restriction, craniofacial alterations, body asymmetries, low body mass index, and feeding difficulties. Alterations in motor development, global coordination, and speech are expected. The current study aims to present the syndrome, neurodevelopment, and communication characteristics of three male children diagnosed with the syndrome, aged 16, 18, and 44 months, respectively. Ethical principles were followed. An analysis of the medical records, aiming to collect information of the anamnesis, conducted with the guardians, and of the assessment carried out with the children was performed. The assessment was performed by applying the following instruments: Communicative Behavior Observation (CBO), Development Screening Test Denver-II (TSDD-II), and the Early Language Milestone Scale (ELMS). The survey of characteristics confirmed the SRS hypothesis; it was verified a delay in communicative behavior for all participants in CBO; in TSDD-II there was a delay in gross motor, fine motor-adaptive, language, and social personal skills. Scores below expectations were found for receptive auditory and expressive auditory functions, with receptive abilities more developed than expressive abilities, in ELM. The SRS deserves to be recognized by the scientific community, since the phenotypic characteristics and the data from the previous life allow the hypothesis of the syndrome to be raised, aiming at an early correct diagnosis and therapeutic planning that minimizes the harmful effects of this condition.

Síndrome de Silver-Russell. Aspectos clínicos y etiopatológicos de una entidad ejemplo de impronta genómica / Silver-Russell syndrome. Clinical and etiopathological aspects of a model genomic imprinting entity

El síndrome de Silver-Russell se caracteriza por retraso del crecimiento intrauterino asimétrico, con circunferencia craneal normal, barbilla pequeña y puntiaguda, que proporciona un aspecto de rostro triangular. Puede, además, presentar asimetría corporal, entre otros. Tiene una incidencia mundial estimada de 1 en 30 000-100 000 nacimientos, aunque este número es, probablemente, subestimado. En alrededor del 60 % de los casos, se puede identificar una causa molecular y la principal es la hipometilación del alelo paterno en la región de control de impresión 1 localizado en 11p15.5-p15.4. Realizar el diagnóstico de esta entidad, excluir los diagnósticos diferenciales y conocer las correlaciones (epi)genotipo-fenotipo son necesarios para realizar el adecuado seguimiento, brindar las opciones terapéuticas disponibles y el oportuno asesoramiento genético familiar. El objetivo del presente artículo es mostrar el estado actual del síndrome de Silver-Russell, un ejemplo de trastorno de impronta genómica.

Silver-Russell syndrome is characterized by asymmetrical intrauterine growth retardation, with normal head circumference and small, pointed chin, which results in a triangular face. It can also include body asymmetry, among other characteristics. Its global incidence is estimated at 1 in 30 000-100 000 births, even though this figure may be underestimated. In approximately 60 % of cases, a molecular cause can be identified, and the main one is hypomethylation of the paternal allele at the imprinting control region 1 located at 11p15.5-p15.4. It is necessary to make the diagnosis of this entity, exclude differential diagnoses, and know (epi)genotype-phenotype correlations in order to ensure an adequate follow-up, provide available therapeutic options, and offer a timely family genetic counseling. The objective of this article is to describe the current status of the Silver-Russell syndrome, a model of genomic imprinting disorder.

Síndrome de Silver-Russell, un desafío diagnóstico / Silver-russell syndrome, a diagnostic challenge

El síndrome de Silver-Russell es una condición infrecuente que clínicamente se manifiesta por macrocefalia relativa, dismorfias faciales, restricción importante de crecimiento pre-y postnatal y otros hallazgos variables al examen físico. En un 60% de los pacientes el estudio genético actualmente disponible permite establecer el diagnostico, sin embargo prevalecen los criterios clínicos. Se presenta el caso clínico de un paciente evaluado al año de vida con historia de restricción de crecimiento prenatal y con talla baja y desnutrición crónica descompensada, en el cuál se descartaron otras etiologías y se concluye por criterios clínicos de padecer el síndrome, a pesar de un estudio genético negativo. Debido a un amplio espectro de manifestaciones clínicas a veces sutiles y confundentes se debe conocer este síndrome para su diagnóstico oportuno.

Silver-Russell syndrome is an uncommon condition that manifests itself as relative macrocephaly, facial dysmorphia, poor pre-and post-natal growth and other variable physical features. In 60% of patients it is possible to establish the diagnosis through available genetic testing; however, clinical criteria are more important. We present the clinical case of a patient with poor pre-natal growth, small size and chronic malnutrition evaluated at one year old where other etiologies were discounted and the syndrome diagnosed because of the clinical signs, despite genetic tests being negative. With its ample spectrum of sometimes subtle and confusing clinical signs, familiarity with this syndrome is key to reaching an early diagnosis.

Perfil Nutricional de Crianças Portadoras de Tumores Cerebrais com Síndrome Diencefálica ou Síndrome de Russell recebendo Dieta Enteral / Nutritional Profile of Children with Brain Tumor with Diencephalic Syndrome or Russell Syndrome receiving Enteral Diet / Perfil Nutricional de Niños Portadores de Tumores Cerebrales con Síndrome diencefálico o Síndrome de Russell recibiendo dieta Enteral

Introdução: a síndrome diencefálica é uma doença pediátrica rara, decorrente de tumores hipotalâmicos, caracterizada por failure to thrive. Objetivo: descrever o estado nutricional e a terapia nutricional por meio de sonda nasoenteral de pacientes com tumores cerebrais com a síndrome diencefálica. Método:sete pacientes foram acompanhados de julho/1999 a abril/2002 e analisados retrospectivamente, usando os escores-z de peso para idade (P/i), peso para estatura (P/e) e estatura para idade (e/i) no diagnóstico da desnutrição. todos foram avaliados por meio de composição corporal: prega cutânea triciptal (Pct) e circunferências do braço e muscular do braço (cB e cMB) e receberam alimentação por sonda nasoenteral ou gastrostomia após o diagnóstico da neoplasia. Resultados: a idade variou de 2 meses a 13 anos, cinco do sexo masculino. a duração média da nutrição enteral foi de 7 meses (1,1-18,5) após o diagnóstico, sem diferença estatística significante na evolução dos escores-z, apesar do aumento nas médias de P/i (-4,42 para -3,50) e P/e (-3,06 para -1,99), e dos indicadores de composição corporal (Pct: 2,85 para 4,88; cB: 9,81 para 11,84 e cMB: 8,91 para 10,31). Houve redução na média da e/i, caracterizando o atraso no crescimento dessas crianças. Conclusão: a nutrição enteral demonstrou garantir a oferta nutricional e recuperar em parte os indicadores nutricionais de desnutrição aguda; principalmente a gordura corporal, mais do que massa magra. entretanto, manteve-se o déficit de crescimento, agravado na maioria dos casos. a terapia nutricional deve ser implantada durante o tratamento oncológico, assegurando sua continuidade.

Introduction:diencephalic syndrome is a rare disorder of infancy characterized by profound emaciation with failure to thrive. The majority of cases of the syndrome are due to low grade gliomas of the anterior hypothalamus or optic nerve. Objective:to report the nutritional status and efficacy of nutritional support in patients with brain tumors that developed the russell's syndrome. Method:seven patients were retrospectively evaluated by means of z-score of the weight for age (W/a), weight for height (W/H) and height for age (H/a) nutritional status index, for protein-energy malnutrition diagnosis. They were evaluated by means of triceps skinfold thickness (tsFt), arm circumferences (ac) and muscle arm circumferences (Mac) and received enteral nutrition, by nasoenteral tube or gastrostomy at cancer diagnostic. Results: The ages ranged from 2 months to 13 years, five children were males. Mean of the nutritional support was 7 months (1.1-18.5 months) after diagnostic, without statistical differences in z-scores evolution, but there are increase in averages of the W/a (-4,42 to -3,50) and W/H (-3,06 to -1,99), and body composition indicators (tsFt): 2.85 to 4.88, ac: 9.81 to 11.84 and Mac: 8.91 to 10.31). There was decreased in average of H/a, evidencing the growth arrest of these children. Conclusion:enteral feeding has been shown to guarantee nutritional supply and to partially recover nutritional indicators of acute malnutrition; especially body fat, rather than lean mass. However, the growth deficit was not corrected, being aggravated in most cases. nutritional support should be implanted during oncological treatment, ensuring its maintenance.

Introducción:el síndrome diencefalica es una enfermedad pediátrica rara, derivada de tumores de la región hipotalámica, caracterizada por failure to thrive. Objetivo: describir condiciones nutricionales y terapia nutricional de pacientes con tumores cerebrales com síndrome diencefalica y nutrición enteral. Método: siete pacientes fueron acompañados de julio/1999 a abril/2002 y analizados retrospectivamente, usando el score-Z de peso para edad (P/i), peso para estatura (P/e) y estatura para edad (e/i) para el diagnóstico de la desnutrición. todos fueron evaluados por composición corporal (pliegue cutáneo triciptal y circunferencias del brazo y muscular del brazo). los pacientes recibieron nutrición enteral por sonda o gastrostomía, luego del diagnóstico de cancer. Resultados:la edad varía de 2 meses a 13 años, cinco del sexo masculino. la duración media de la nutrición enteral fue de 7 meses (1,1-18,5) después del diagnóstico. no hubo diferencia estadística en la evolución nutricional, a pesar del aumento en P/i (-4,42 a -3,50) y P/e (-3,06 a -1,99), así como en la composición corporal (Pct: 2,85 a 4,88, cB: 9,81 a 11,84 y cMB: 8,91 para 10.31). Hubo una reducción de e/i, caracterizando el retraso en el crecimiento. Conclusión:la nutrición enteral demostró garantizar la oferta nutricional.e la recuperación parcial de la desnutrición aguda, principalmente grasa corporal, más que masa magra, sin respuesta al déficit en el crecimiento, que se agravó en casi todos los casos. la terapia nutricional debe ser implantada durante el tratamiento oncológico, asegurando su continuidad.

Símdrome de Silver-Russell (hemihipertrofia) y cor triatriatum en un neonato / Silver-Russell syndrome (hemihypertrophy) and cor triatriatum in a newborn

Tanto el síndrome de hemihipertrofia como el cor triatriatum son patologías sumamente infrecuentes. La hemihipertrofia se define como el sobrecrecimiento completo o parcial de uno de los hemicuerpos. El cor triatriatum es una cardiopatía congénita caracterizada por una membrana que divide la aurícula izquierda en dos cámaras; si esta membrana tiene un orificio restrictivo, provoca obstrucción al pasaje sanguíneo desde las venas pulmonares hacia el ventrículo izquierdo, lo que genera hipertensión y edema pulmonar. En este contexto, el ductus arterioso permeable puede actuar como vía de descompresión del circuito pulmonar al permitir el pasaje sanguíneo desde la arteria pulmonar hacia la aorta. Presentamos a un paciente con diagnóstico de síndrome de Silver-Rusell (hemihipertrofia), cor triatriatum y ductus arterioso con flujo invertido. Hasta donde conocemos, esta asociación de patologías infrecuentes y forma de presentación no se han descrito anteriormente.

Hemihypertrophy syndrome and cor triatriatum are extremely rare pathologies. Hemihypertrophy is defined as complete or partial overgrowth of one of the hemibodies. Cor triatriatum is a congenital heart disease characterized by a membrane which separates the left atrium into two chambers; if that membrane has a restrictive hole, it causes obstruction to blood passage from the pulmonary veins into the left ventricle causing hypertension and pulmonary edema. In this context, the patent ductus arteriosus can act as a means of decompression of the pulmonary circuit, because it allows the blood passage from the pulmonary artery to the aorta. We report a patient with Silver-Rusell syndrome (hemihypertrophy), cor triatriatum and ductus arteriosus with reverse flow. To our knowledge, this association of rare pathologies and this clinical presentation have not been described previously.

Perfil clínico de una cohorte de pacientes con síndrome de Silver-Russell atendidos en el Hospital Infantil de México Federico Gómez de 1998 a 2012 / Clinical profile of a cohort of Silver-Russell syndrome patients followed at the Hospital Infantil de México Federico Gómez from 1998 to 2012

Introducción: El síndrome de Silver-Russell presenta restricción del crecimiento intrauterino y posnatal, macrocefalia relativa y asimetría, entre otras características. Es causado por mecanismos genéticos y epigenéticos en el cromosoma 11p15.5 en el 40% de los casos y por disomía uniparental materna del cromosoma 7 en el 10%. Métodos: Se identificaron los pacientes con diagnóstico de síndrome de Silver-Russell del Hospital Infantil de México Federico Gómez atendidos de 1998 a 2012; se reevaluaron 20 pacientes según los criterios clínicos internacionales, y se confirmó el diagnóstico en nueve sujetos. Resultados: Todos los pacientes presentaron restricción del crecimiento intrauterino y talla baja, ambos criterios diagnósticos mayores. La macrocefalia relativa estuvo presente en el 78% y la asimetría corporal solo en el 33%. Otras características, como la acidosis tubular renal, estuvieron presentes en más del 50%. Conclusiones: El diagnóstico del síndrome de Silver-Russell es complejo, por lo que contar con criterios clínicos adecuados es fundamental. Dado que la talla baja es la principal solicitud de atención médica en este síndrome, es relevante establecer diagnósticos diferenciales y valorar el crecimiento y desarrollo de todos los pacientes para identificar a aquellos en quienes la talla baja forma parte de una entidad sindrómica y que serían candidatos para realizar estudios moleculares. Este abordaje tendrá implicaciones para su manejo, pronóstico y asesoramiento genético.

Background: Patients with Silver-Russell syndrome suffer from severe intrauterine and postnatal growth retardation, relative macrocephaly and body asymmetry, among other characteristics. It is caused by several genetic and epigenetic mechanisms in 11p15.5 in 40% of the cases and maternal uniparental disomy of chromosome 7 in 10%. Methods: Twenty patients with a diagnosis of Silver-Russell syndrome who were seen at the HIMFG from 1998 to 2012, were evaluated according to international clinical criteria confirming the diagnosis in nine of the subjects. Results: All patients showed intrauterine and postnatal growth retardation and short stature, both considered as major criteria of Silver-Russell syndrome. Relative macrocephaly was present in 78% of the patients and asymmetry in 33%. Other characteristics such as renal tubular acidosis were present > 50% of the cases. Conclusions: The clinical diagnosis of Silver-Russell syndrome is complex. Short stature is the main reason for seeking medical attention and is helpful in the identification of a differential diagnosis. This situation underlines the importance of growth and development evaluation of all patients and particularly in those with short stature to identify those cases that may require molecular studies, with implications in management, prognosis and genetic counseling.

Síndrome de Silver Russell / Russell Silver syndrome

El síndrome de Silver Russell es una enfermedad genética clasificada como un desorden del imprinting con alteraciones genéticas y epigenéticas. Se caracteriza por presentar asimetría facial o de los miembros, cara triangular, clinodactilia y retraso del crecimiento intrauterino y posnatal. Estos pacientes tienen, además, un mayor riesgo de desarrollar un retraso madurativo de leve a moderado. Los hallazgos dermatológicos asociados que se han descripto hasta la actualidad son alteraciones de la pigmentación (como máculas café con leche e hiperpigmentación difusa con áreas hipopigmentadas escasas y pequeñas) e hiperhidrosis. Se presenta una paciente con síndrome de Silver Russell evaluada en nuestro servicio de Dermatología...

Silver Russell syndrome is a genetic disease classified as an imprinting disorder with genetic and epigenetic disturbances. It is characterized by asymmetric face or limb-length asymmetry, triangular-shaped face, clinodactyly and intrauterine growth retardation together with postnatal growth deficiency. These patients are at significant risk for mild to moderate developmental delay (both motor and cognitive) and learning disabilities. The associated skin manifestations reported are pigmentation disorders (that include café au lait macules or diffuse brown pigmentation with a few small hypopigmented areas) and hyperhidrosis. We present a patient with Silver-Russell syndrome evaluated at our Dermatology Department...

El papel de la genética en la restricción del crecimiento intrauterino / The role of genetics in fetal growth restriction

Se define como restricción del crecimiento intrauterino (RCIU) a la alteración en el crecimiento fetal que determina un peso por debajo de la percentila 10 para la edad gestacional. Las causas genéticas de RCIU pueden dividirse en: cromosómicas, alteraciones de la epigenética o impronta y síndromes génicos. Se presenta el caso de una paciente con RCIU referida por sospecha de displasia ósea, en la que se descartó disfunción vascular placentaria por ultrasonido prenatal, infecciones, patología materna y displasias óseas por estudio radiológico normal. Se realizó cariotipo en el cordón umbilical y en tres diferentes sitios de la placenta por la posibilidad de un mosaico placentario, obteniéndose un resultado normal. Al nacimiento presentó peso y talla por debajo de la percentila 3, cráneo dolicocéfalo con frontal prominente, fontanela anterior amplia, cara pequeña, triangular con mentón en punta y clinodactilia bilateral. A los dos meses de edad se observó asimetría de extremidades inferiores y se refirió reflujo gastroesofágico. Con base en los criterios clínicos y resultados obtenidos se realizó el diagnóstico de síndrome de Silver-Russell.

Intrauterine growth restriction (IUGR) is an alteration in fetal development in which the fetal weight is below the 10th percentile for gestational age. The genetic causes of IUGR can be classified as: chromosomal, epigenetic and other imprinting disorders and monogenic syndromes. We report a patient with IUGR referred to our hospital with the prenatal diagnosis of achondroplasia. Vascular malfunction of the placentae, maternal pathology, and skeletal dysplasia were discarded. A karyotype in umbilical cord and in three different placental spots was performed, with a normal result in all of them, ruling out placentae mosaicism. At birth, the weight and height were below the 3th percentile. Physical examination showed: dolicocephaly, frontal prominence, large fontanels, small and triangular face, pointed chin and incurved bilateral fifth fingers. Two months later a lower limb asymmetry was noticed and gastroesophageal reflux was referred. With these clinical abnormalities and the studies performed the diagnosis of Silver-Russell syndrome was established.

Processamento auditivo, leitura e escrita na síndrome de Silver-Russell: relato de caso / Auditory processing, reading and writing in the Silver-Russell syndrome: case report

O objetivo deste trabalho foi descrever os aspectos fonoaudiológicos de processamento auditivo, leitura e escrita de um paciente do gênero masculino com diagnóstico de síndrome de Silver-Russell. Aos dois meses de idade o paciente apresentava déficit pôndero-estatural; frontal amplo; orelhas pequenas, proeminentes e com baixa implantação; palato ogival; discreta micrognatia; esclera azulada; manchas café-com-leite; sobreposição do primeiro e segundo artelhos à direita; refluxo gastroesofágico; voz e choro agudos; atraso leve no desenvolvimento neuropsicomotor; e dificuldade de ganhar peso, recebendo o diagnóstico da síndrome. Na avaliação psicológica, realizada aos 8 anos de idade, o paciente apresentou nível intelectual normal, com dificuldades cognitivas envolvendo atenção sustentada, concentração, memória verbal imediata e processos emocionais e comportamentais. Para avaliação da leitura e escrita e de seus processos subjacentes, realizada aos 9 anos de idade foram utilizados os testes de Compreensão Leitora de Textos Expositivos, Perfil das Habilidades Fonológicas, Teste de Discriminação Auditiva, escrita espontânea, Teste de Desempenho Escolar (TDE), teste de Nomeação Automática Rápida e prova de memória de trabalho fonológica. Apresentou dificuldades em todos os testes, estando as pontuações abaixo do esperado para sua idade. Na avaliação do processamento auditivo foram realizados testes monóticos, dióticos e dicóticos. Foram encontradas alterações nas habilidades de atenção auditiva sustentada e seletiva, memória sequencial para sons verbais e não-verbais, e resolução temporal. Conclui-se que o paciente apresenta alterações na aprendizagem da leitura e escrita que podem ser secundários a síndrome de Silver-Russell, porém tais dificuldades também podem ser decorrentes das alterações em habilidades do processamento auditivo.

The aim of this study was to describe the speech-language pathology aspects of auditory processing, reading and writing of a male patient diagnosed with Silver-Russell syndrome. With two months of age the patient presented weight-for-height deficit; broad forehead; small, prominent and low-set ears; high palate; discrete micrognathia; blue sclera; cafe-au-lait spots; overlapping of the first and second right toes; gastroesophageal reflux; high-pitched voice and cry; mild neuropsychomotor development delay; and difficulty to gain weight, receiving the diagnosis of the syndrome. In the psychological evaluation, conducted when he was 8 years old, the patient presented normal intellectual level, with cognitive difficulties involving sustained attention, concentration, immediate verbal memory, and emotional and behavioral processes. For an assessment of reading and writing and their underlying processes, carried out at age 9, the following tests were used: Reading Comprehension of Expository Texts, Phonological Abilities Profile, Auditory Discrimination Test, spontaneous writing, Scholastic Performance Test (SPT), Rapid Automatized Naming Test (RANT), and phonological working memory. He showed difficulties in all tests, with scores below expected for his age. In the auditory processing assessment, monotic, diotic and dichotic tests were conducted. Altered results were found for sustained and selective auditory attention abilities, sequencial memory for verbal and non-verbal sounds, and temporal resolution. It can be concluded that the patient presents alterations in the learning of reading and writing that might be secondary to the Silver-Russell syndrome, however, these difficulties can also be due to deficits in auditory processing abilities.