Un lactante con neumatosis intestinal y neumoperitoneo: la difícil decisión de no intervenir / An infant with intestinal pneumatosis and pneumoperitoneum: the difficult decision not to intervene

El neumoperitoneo en niños puede deberse a causas que no requieran cirugía urgente, como maniobras de reanimación cardiopulmonar, patología respiratoria grave o ventilación mecánica. Intervenir en estos casos podría, incluso, empeorar el pronóstico. Presentamos el caso clínico de un lactante varón, exprematuro, con antecedente al nacer de enterocolitis necrotizante y perforación ileal, que precisó laparotomía y resección intestinal en dos ocasiones y que desarrolló un microcolon por desuso secundario. A los seis meses, tras iniciar alimentación oral exclusiva, presentó distensión abdominal con extensa neumatosis intestinal y neumoperitoneo en las radiografías. Su aspecto era bueno con tránsito intestinal conservado y ausencia de peritonitis. El paciente se mantuvo a dieta absoluta con antibioterapia endovenosa, sondaje nasogástrico y nutrición parenteral. La evolución fue favorable, reiniciando la alimentación oral a los siete días del ingreso. La existencia de un neumoperitoneo no siempre obliga a realizar una laparotomía, y la valoración global del enfermo por un equipo multidisciplinar puede evitar tratamientos agresivos innecesarios

Pneumoperitoneum in children may be due to causes that do not require urgent surgery (cardiopulmonary resuscitation manoeuvres, severe respiratory pathology or mechanical ventilation). Surgery in these cases could even worsen the prognosis. We present the case of a male infant, ex-preterm, with a history of necrotizing enterocolitis and ileal perforation at birth, requiring laparotomy and intestinal resection on two occasions and developing a secondary microcolon, due to disuse. At six months, after transitioning to full oral feeding, he presented abdominal distension with extensive intestinal pneumatosis and pneumoperitoneum on radiographs. His general appearance was good with normal intestinal transit and no peritonitis. The patient remained fasting with intravenous antibiotics, nasogastric decompression and parenteral nutrition. The evolution was favourable with oral feeding restarting on the seventh day of admission. The existence of pneumoperitoneum does not always require a laparotomy and global assessment of the patient by an interdisciplinary health team may avoid unnecessary aggressive treatments

[An infant with intestinal pneumatosis and pneumoperitoneum: the difficult decision not to intervene]. / Un lactante con neumatosis intestinal y neumoperitoneo: la difícil decisión de no intervenir.

Pneumoperitoneum in children may be due to causes that do not require urgent surgery (cardiopulmonary resuscitation manoeuvres, severe respiratory pathology or mechanical ventilation). Surgery in these cases could even worsen the prognosis. We present the case of a male infant, ex-preterm, with a history of necrotizing enterocolitis and ileal perforation at birth, requiring laparotomy and intestinal resection on two occasions and developing a secondary microcolon, due to disuse. At six months, after transitioning to full oral feeding, he presented abdominal distension with extensive intestinal pneumatosis and pneumoperitoneum on radiographs. His general appearance was good with normal intestinal transit and no peritonitis. The patient remained fasting with intravenous antibiotics, nasogastric decompression and parenteral nutrition. The evolution was favourable with oral feeding restarting on the seventh day of admission. The existence of pneumoperitoneum does not always require a laparotomy and global assessment of the patient by an interdisciplinary health team may avoid unnecessary aggressive treatments.

Hiperinsulinimso neonatal por nueva mutación del gen ABBCC8 con evolución hacia diabetes hipoinsulínica / Neonatal hyperinsulinism due to new mutation of ABCCS gene with evolution towards hypoinsulinemic diabetes

Recientemente se han descrito mutaciones activadoras de los genes ABCC8 y KCNJ11 causantes de hiperinsulinismo hipoglucémico seguido del desarrollo de una diabetes hipoinsulínica posterior. Se presenta un caso de hiperinsulinismo congénito neonatal por nueva mutación el gen ABCC8 con evolución hacia una diabetes hipoinsulínica al cabo de cuatro caos de evolución. Se trata de una recién nacida macrosómica afecta de hiperinsulinismo con una expresión clínica importante ya que inicialmente presentaba hipoglucemias e hiperinsulinemias severas con buena respuesta al diazóxido. Posteriormente fue estabilizándose la situación metabólica, llegando a retirarse la medicación sin apenas recaídas importantes. A continuación y coincidiendo con procesos infecciosos intercurrentes, se apreciaba tendencia a descender las glucemias sin llegar a presentar hipoglucemias e hiperinsulinemias francas y sin cetosis, que no respondieron a la medicación. Finalmente, a los cinco años de edad aparece una intolerancia a la glucosa con hiperglucemias postprandiales y una sobrecarga oral de glucosa patológica indicativa de una evolución a diabetes mellitus hipoinsulínica. Se detectó la mutación Thr1515Ala en heterocigosis en el exón 37 del gen ABCC8 responsable de la codificación de la proteína SUR1 que no hemos encontrado descrita en la literatura revisada. Se discute el posible mecanismo por la cual se pasa de un estado de hiperinsulinismo hipoglucémico a hipoinsulinismo o diabetes hipoinsulínica (AU)

The have been described recently activating mutations in ABCC8 and KCNJ11 genes that are related wyth hypoglycemic hyperinsulinism that subsequently change to hypoinsulinemic diabetes. We present a case of congenital neonatal hyperinsulinism caused by a new mutation in ABCC8 gene that changed to a hypoinsulinemic diabetes after 4 years of evolution. A macrosomic female newborn with severe hypoglycaemia and hyperinsulinemia with good response to diazoxide was followed in our Unit. Subsequently the patient remains compensated and the medication could be discontinued without symptoms of relapses of hypoglycaemia. Along the period of evolution and when the patient suffered intercurrent infectious episodes she showed tendency to present with low glycemia but without of documented hypoglycaemia, hyperinsulinemia or ketosis that did not respond to medication. When she was 5 years old the patient developed glucose intolerance with postprandial hyperglycaemia nad with an oral glucose tolerance curve compatible with hypoinsulinemic diabetes mellitus. Genetic analysis showed Thr1515Ala mutation in heterozygosis in exon 37 of the ABCC8 gene responsible of coding SUR1 protein that has not been previously described. The possible mechanisms involved in the modification of the clinical phenotype from an state of hyperinsulinemic hypoglicaemia to a state of hypoinsulinemia and diabetes are discussed (AU)

Autoevaluación del cumplimiento del protocolo de manejo de la ataxia aguda en urgencias / Self-assessment of compliance to the protocol for the management of acute ataxia in emergencies

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Distrofia miotónica. Nuestra experiencia de 18 años en consulta de Neuropediatría / Myotonic dystrophy. 18 years experience in a neuropaediatric clinic

Introducción: La distrofia miotónica es una enfermedad multisistémica autosómica dominante de expresividad variable. Se revisa nuestra experiencia de 18 años en pacientes afectados. Resultados: Se han identificado 11 pacientes confirmados con el estudio genético molecular: 2 fallecieron, 5 siguen en control, a 2 se los sigue en otro centro y 3 abandonaron el control. Tres son familiares entre sí. Iniciaron en el período neonatal 7 niños con hipotonía, 4 de ellos con sufrimiento fetal añadido. Un niño se diagnosticó a los 3 meses por el padre afectado. Una niña consultó a los 10 años por agarrotamientos de las manos desde hacía años, un niño consultó a los 5 años con posturas anómalas de las manos y un niño consultó a los 4 años por retraso psicomotor. Alteraciones asociadas: 7 niños con retraso psicomotor, 2 casos de cataratas, un caso de diabetes de tipo 1, 3 casos de hipercolesterolemia, un sarcoma de pared abdominal, un caso de fractura de fémur y cadera, 2 casos de comunicación interauricular. El diagnóstico se realizó en 5 casos por la clínica o el fenotipo de madre y niño, en 3 casos tras diagnóstico familiar y en los 3 casos no congénitos sintomáticos exclusivamente por la clínica del niño. Discusión: La distrofia miotónica es poco frecuente en nuestra experiencia; más frecuentes son las formas congénitas, que asocian con frecuencia sufrimiento perinatal. La genética permite identificar o excluir el proceso. Debe realizarse ante recién nacidos hipotónicos de causa no aclarada y plantearse en niños ante alteraciones motrices en los dedos y las manos no fácilmente explicables (AU)

Introduction: Myotonic dystrophy is a highly variable autosomic dominant inherited multisystemic disease. We review our 18 years experience with patients suffering from this disease. Results: Eleven patients were identified following a molecular genetic study: 2 patients died, 5 are still under control, 2 are being controlled in another Centre, and 3 dropped out. Three of them were relatives. Seven newborns started with hypotonic symptoms in the neonatal period, with hypotonic symptoms, of which 4 had foetal suffering. One child was diagnosed at age of 3 due to her father being affected. One girl was seen at age of 10 due to stiffness and tightening of her hands for years. One boy, aged 5, was examined due to abnormal hands posture, and a 4 year old child due to psychomotor delay. Associated disorders: 7 children with psychomotor delay, 2 cases of cataracts, 1 case of diabetes type I, 3 cases of hypercholesterolemia, 1 abdominal sarcoma, 1 case of femur and hip fracture, 2 cases of interatrial communication. The diagnostic was made in 5 cases by a clinic due to mother-son relation phenotype, in 3 cases after the family diagnosis and in another 3 cases non-congenital symptoms exclusively in the child's clinic. Discussion: In our experience, myotonic dystrophy is uncommon; it is often congenital, and is associated with perinatal suffering. Genetics can identify or exclude the process. This must be done on newborns who are hypotonic for an unknown reason. It should be suspected in a child who presents with motor abnormalities in the fingers and hands (AU)

[Myotonic dystrophy. 18 years experience in a neuropaediatric clinic]. / Distrofia miotónica. Nuestra experiencia de 18 años en consulta de Neuropediatría.

INTRODUCTION: Myotonic dystrophy is a highly variable autosomic dominant inherited multisystemic disease. We review our 18 years experience with patients suffering from this disease. RESULTS: Eleven patients were identified following a molecular genetic study: 2 patients died, 5 are still under control, 2 are being controlled in another Centre, and 3 dropped out. Three of them were relatives. Seven newborns started with hypotonic symptoms in the neonatal period, with hypotonic symptoms, of which 4 had foetal suffering. One child was diagnosed at age of 3 due to her father being affected. One girl was seen at age of 10 due to stiffness and tightening of her hands for years. One boy, aged 5, was examined due to abnormal hands posture, and a 4 year old child due to psychomotor delay. Associated disorders: 7 children with psychomotor delay, 2 cases of cataracts, 1 case of diabetes type I, 3 cases of hypercholesterolemia, 1 abdominal sarcoma, 1 case of femur and hip fracture, 2 cases of interatrial communication. The diagnostic was made in 5 cases by a clinic due to mother-son relation phenotype, in 3 cases after the family diagnosis and in another 3 cases non-congenital symptoms exclusively in the child's clinic. DISCUSSION: In our experience, myotonic dystrophy is uncommon; it is often congenital, and is associated with perinatal suffering. Genetics can identify or exclude the process. This must be done on newborns who are hypotonic for an unknown reason. It should be suspected in a child who presents with motor abnormalities in the fingers and hands.

Citomegalovirus congénito neonatal. Comunicación de un caso y revisión / Neonatal congenital cytomegalovirus. Case report and

El citomegalovirus congénito es la etiología más frecuente de infección congénita viral y la principal causa de deficiencia neurosensorial adquirida intraútero. La infección derivada de una primoinfección materna tiene consecuencias más graves que las recurrentes en cuanto a la tasa de transmisión vertical, gravedad del cuadro clínico y secuelas a largo plazo. Se comunica una nueva observación de citomegalovirus congénito neonatal, en la que el diagnóstico se sospechó ante la presencia de un retraso de crecimiento intrauterino armónico, con clínica neurológica y alteraciones neurorradiológicas características, y se revisan los principales aspectos clínicos y epidemiológicos de la afección (AU)

Title: Neonatal congenital cytomegalovirus. Case report and review Summary. Congenital cytomegalovirus is the most frequent congenital viral infection etiology and the main cause of acquired intrauterine neurosensorial failure. The infection derived from a maternal primo-infection has more serious consequences than the recurrent ones as regards to the vertical transmission rate, severity of the clinical case and long-term after effects. A new observation of neonatal congenital cytomegalovirus is reported, whose diagnosis was suspected before the presence of harmonic intrauterine growth retardation, similar to the neurological clinic and characteristic neuroradiologic alterations. The main clinical and epidemiologic aspects of the infection are reviewed (AU)