[Allan-Herndon-Dudley syndrome: a diagnosis to rule out in any male infant with undiagnosed hypotonia]. / Síndrome de Allan-Herndon-Dudley: un diagnóstico a descartar ante todo lactante varón con hipotonía sin causa determinada.

Allan-Herndon-Dudley syndrome is a rare X-linked genetic disorder, caused by a deficiency of the monocarboxylate transporter 8 (MCT8), a specific transporter of thyroid hormones, with functions mainly at the brain level. The syndrome produces an early onset of severe neurological disorder, in which hypotonia predominates. OBJECTIVE: To present a rare case with an unexpected diagnosis, highlighting the usefulness of requesting a complete thyroid profile in every hypotonic male infant without a specific cause. CLINICAL CASE: A 10-month-old male infant with severe axial and peripheral hypotonia, global weakness with little spontaneous mobility, without head support or stable sitting. Complete metabolic and peripheral neurophysiological studies were performed. Genetic studies for spinal muscular atrophy, Prader Willi syndrome, and myotonic dystrophy were also performed. The trio exome analysis detected a probably pathogenic variant c.359C>T;p.(Ser120Phe), hemizygous in exon 1 of the SLC16A2 gene, inherited from the mother. Thyroid abnormalities as increased free triiodothyronine (T3) and thyroid-stimulating hormone (TSH), and delayed myelination were ob served. CONCLUSIONS: MCT8 deficiency should be considered in the case of the male infant with unex plained hypotonia and weakness without a determined cause. The diagnosis is guided by a thyroid profile including free T3 hormone, because it presents a characteristic thyroid profile with decreased free thyroxine (T4), increased free T3, and normal or slightly elevated TSH levels. In this case, the implementation of the trio exome analysis allows establishing an early certain diagnosis.

Linfangiectasia intestinal en un paciente afectado de síndrome de Sanfilippo B / Intestinal lymphangiectasia in a patient with Sanfilippo B syndrome

La mucopolisacaridosis tipo III B es una enfermedad de depósito lisosomal causada por la deficiencia de la enzima N-acetil-alfa-d-glucosaminidasa, implicada en el catabolismo del heparán sulfato, que produce su acúmulo en diversos tejidos. Se presenta a un paciente de 8 años, afectado de mucopolisacaridosis tipo III B, con historia de diarrea crónica y hallazgos endoscópicos e histológicos compatibles con linfangiectasia intestinal. Tras tratamiento dietético con restricción de ácidos grasos de cadena larga y rica en triglicéridos de cadena media, presentó mejoría clínica, mantenida hasta la actualidad.La patogenia de la diarrea crónica en pacientes con mucopolisacaridosis tipo III B es aún desconocida. Debe investigarse la presencia de linfangiectasia intestinal en estos pacientes e iniciar, en caso de confirmarse, un tratamiento dietético adecuado para mejorar así su calidad de vida.

Mucopolysaccharidosis type IIIB is a lysosomal storage disease caused by a deficiency of the N-acetyl-alpha-d-glucosaminidase enzyme involved in the catabolism of heparan sulfate, causing its accumulation in various tissues. We present an 8-year-old patient with mucopolysaccharidosis type IIIB, with a history of chronic diarrhea and endoscopic and histological findings compatible with intestinal lymphangiectasia. After a dietary treatment with a low-fat diet supplemented with medium-chain triglyceride, our patient presents clinical improvement until today. The pathogenesis of chronic diarrhea in patients with mucopolysaccharidosis type IIIB is still unknown. The presence of intestinal lymphangiectasia in these patients should be investigated, and appropriate dietary treatment should be initiated, if confirmed, to improve their quality of life.

[Intestinal lymphangiectasia in a patient with Sanfilippo B syndrome]. / Linfangiectasia intestinal en un paciente afectado de síndrome de Sanfilippo B.

Mucopolysaccharidosis type IIIB is a lysosomal storage disease caused by a deficiency of the N-acetyl-alpha-d-glucosaminidase enzyme involved in the catabolism of heparan sulfate, causing its accumulation in various tissues. We present an 8-year-old patient with mucopolysaccharidosis type IIIB, with a history of chronic diarrhea and endoscopic and histological findings compatible with intestinal lymphangiectasia. After a dietary treatment with a low-fat diet supplemented with mediumchain triglyceride, our patient presents clinical improvement until today. The pathogenesis of chronic diarrhea in patients with mucopolysaccharidosis type IIIB is still unknown. The Linfangiectasia intestinal en un paciente afectado de síndrome de Sanfilippo B Intestinal lymphangiectasia in a patient with Sanfilippo B syndrome presence of intestinal lymphangiectasia in these patients should be investigated, and appropriate dietary treatment should be initiated, if confirmed, to improve their quality of life.

La mucopolisacaridosis tipo III B es una enfermedad de depósito lisosomal causada por la deficiencia de la enzima N-acetil-alfad- glucosaminidasa, implicada en el catabolismo del heparán sulfato, que produce su acúmulo en diversos tejidos. Se presenta a un paciente de 8 años, afectado de mucopolisacaridosis tipo III B, con historia de diarrea crónica y hallazgos endoscópicos e histológicos compatibles con linfangiectasia intestinal. Tras tratamiento dietético con restricción de ácidos grasos de cadena larga y rica en triglicéridos de cadena media, presentó mejoría clínica, mantenida hasta la actualidad. La patogenia de la diarrea crónica en pacientes con mucopolisacaridosis tipo III B es aún desconocida. Debe investigarse la presencia de linfangiectasia intestinal en estos pacientes e iniciar, en caso de confirmarse, un tratamiento dietético adecuado para mejorar así su calidad de vida.

Deficiencia de lipasa ácida lisosomal: una causa poco reconocida de dislipemia y disfunción hepática / Lysosomal acid lipase deficiency: A rarely recognised cause of dyslipidaemia and liver dysfunction

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Encefalopatía epiléptica infantil precoz por mutación en ITPA / Early infantile epileptic encephalopathy due to ITPA mutation

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Episodio de hipotonía-hiporrespuesta tras administracion de la vacuna antimeningococo B 4CMenB / Hypotonic-hyporesponsive episode after antimeningococcal B vaccine, 4CMenB

El episodio hipotonía-hiporrespuesta (EHH) es un tipo muy inusual de efecto adverso después de la vacunación. Se ha observado con mayor frecuencia tras las vacunas de células enteras contra la tosferina. El EHH se caracteriza por el inicio repentino de hipotonía, hiporrespuesta y el cambio de color de la piel (palidez o cianosis) en las primeras 48 horas después de la administración de una vacuna en niños. Se ha descrito que los episodios pueden durar entre 6 y 30 minutos. Se desconoce la patogénesis. Aunque se ha clasificado dentro de las reacciones adversas graves, no se han demostrado efectos a largo plazo y no se contraindica la administración de una nueva dosis de la vacuna, si así está indicado para completar el calendario de vacunación del niño. Presentamos el caso de una lactante de 5 meses de edad que presentó un EHH tres horas después de la administración de una segunda dosis de la vacuna antimeningocócica B 4CMenB (Bexsero)

Hypotonic-hyporesponsive episode (HHE) is a very unusual type of adverse effect following immunization. HHE has been observed more frequently following whole-cell pertussis vaccines. HHE is characterized by sudden onset of reduced muscle tone, hyporesponsiveness and change of skin colour (paleness or cyanosis) in the first 48 hours after the administration of a vaccine in children. It has been shown that episodes can last between 6 and 30 minutes. The pathogenesis is unknown. Although it has been classified within the severe adverse reactions, long-term effects have not been shown and it does not contraindicate the administration of a new dose of the vaccine, as well as for the vaccination schedule of the child. Introducing the case of a 5-month-old breastfeeding infant who presented a HHE 3 hours after the administration of a second dose of the antimeningococcal B vaccine, 4CMenB (Bexsero)

Presentación atípica de encefalopatía epiléptica infantil precoz asociada al gen KCNT1 / Atypical presentation of early childhood epileptic encephalopathy associated with the gene KCNT1

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Lactante con calcificaciones intracraneales y retinopatía / Infant with intracranial calcifications and retinopathy

Introducción: Las calcificaciones intracraneales pueden tener múltiples etiologías, y la distribución y las características que presenten en la neuroimagen pueden orientar hacia unas u otras. Es importante descartar las entidades más frecuentes que cursan con calcificaciones intracraneales, pero no deben olvidarse otras causas genéticas mucho más remotas, como el síndrome de Coats plus. Caso clínico: Lactante exprematura de 34 semanas de edad gestacional, diagnosticada de retinopatía a los 9 meses al presentar estrabismo. A los 2 años de edad se realizó una resonancia magnética por hemiparesia derecha, en la que se observó una imagen sugestiva inicialmente de neoplasia. Al completar el estudio con una tomografía computarizada craneal, se observaron extensas calcificaciones de predominio en los ganglios basales y lesiones quísticas. Tras descartarse las etiologías más frecuentes de calcificaciones intracraneales, se llegó a la asociación de la retinopatía y la clínica neurológica y se confirmó el síndrome de Coats plus mediante estudio genético, que reveló la presencia de dos variantes en heterocigosis no documentadas hasta la fecha en el gen CTC1. Conclusión: El síndrome de Coats plus es una enfermedad autosómica recesiva extraordinariamente infrecuente, provocada por mutaciones en el gen CTC1, que supone la aparición de telangiectasias retinianas, quistes cerebrales, calcificaciones en los núcleos profundos y leucoencefalopatía, además de otras afecciones óseas y gastrointestinales. El tratamiento es sintomático y la enfermedad tiene un mal pronóstico

Introduction: Intracranial calcifications can have a number of different causes, and the distribution and characteristics they present in neuroimaging can orient the specialist towards one or another. It is important to rule out the most frequent entities that are accompanied by intracranial calcifications, but other more remote genetic causes, such as Coats plus syndrome, should not be overlooked. Case report: Ex-premature female Infant with a gestational age of 34 weeks, diagnosed with retinopathy at 9 months after presenting strabismus. At 2 years of age, an MRI scan was performed for right hemiparesis, in which an image suggestive of a neoplasm was initially observed. Upon completion of the study with a cranial computed tomography scan, extensive calcifications were observed predominantly in the basal ganglia along with cystic lesions. After ruling out the most frequent causations of intracranial calcifications, the association between the retinopathy and the neurological features was established, and Coats plus syndrome was confirmed by a genetic study that revealed the presence of two hitherto unreported variants in heterozygosis in the CTC1 gene. Conclusion: Coats plus syndrome is an extraordinarily rare autosomal recessive disease, caused by mutations in the CTC1 gene, which involves the appearance of retinal telangiectasias, brain cysts, calcifications in deep nuclei and leukoencephalopathy, as well as other bone and gastrointestinal conditions. Treatment is symptomatic and the disease has a poor prognosis

Paraparesia espástica progresiva y siringomielia estática: síndrome de Silver/SPG17 / Progressive spastic paraparesis and static syringomyelia: Silver syndrome/SPG17

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[Mesial temporal sclerosis in paediatrics: its clinical spectrum. Our experience gained over a 19-year period]. / Esclerosis mesial temporal en pediatría: espectro clinico. Nuestra experiencia de 19 años.

INTRODUCTION: Mesial temporal sclerosis (MTS) is defined as neuron loss and gliosis in the hippocampus and adjacent structures. Here we report on our 19 years' experience in dealing with this condition. PATIENTS AND METHODS: A retrospective, descriptive study was conducted of patients diagnosed with MTS between May 1990 and January 2009. RESULTS: A diagnosis of MTS was established in 16 cases (62.5% males). By location these cases were distributed as follows: 12 were unilateral (seven left temporal and five right) and four were bilateral. It was associated to cortical dysplasia in six patients (37.5%) and to hippocampal arachnoid cysts in two other cases. As regards possible causations, in one case herpes simplex encephalitis was suspected; in three cases, a prenatal cerebral vascular pathology; and in three others, prenatal infection by cytomegalovirus. The distribution of the clinical spectrum was as follows: five patients with isolated clinical epilepsy; one with isolated psychomotor retardation or mental retardation (PMR-MR); one with isolated autism spectrum disorder (ASD); three with epilepsy associated to PMR-MR; one with epilepsy associated to ASD; two with PMR-MR and ASD; and two with the triad consisting of epilepsy together with PMR-MR and ASD. In one case, MTS was discovered in migraine studies, without any other symptoms. Crises were controlled with monotherapy in all the patients who received antiepileptic treatment except in three, one of whom required surgery. CONCLUSIONS: The definitive diagnosis of MTS is pathologic, but the latest neuroimaging techniques have allowed a very reliable approximate diagnosis to be reached. It may be associated to other malformative disorders, such as focal cortical dysplasia or cysts. MTS can be observed in epilepsy (whether refractory or not), but also in ASD, PMR-MR or asymptomatic patients.

Esclerosis mesial temporal en pediatría: espectro clínico. Nuestra experiencia de 19 años / Mesial temporal sclerosis in paediatrics: its clinical spectrum. Our experience gained over a 19-year period

Introducción. La esclerosis mesial temporal (EMT) se define como una pérdida neuronal y gliosis en el hipocampo y estructuras adyacentes. Se presenta nuestra experiencia de 19 años. Pacientes y métodos. Estudio descriptivo retrospectivo de los pacientes diagnosticados de EMT, desde mayo de 1990 a enero de 2009. Resultados. Se estableció el diagnóstico de EMT en 16 casos (un 62,5%, varones). Su localización se distribuye en: 12 unilaterales (siete temporales izquierdas y cinco derechas) y cuatro bilaterales. Se asoció a displasia cortical en seis pacientes (37,5%) y en otros dos casos a quistes aracnoideos hipocampales. Como posible etiología, en un caso se sospechó encefalitis herpética, en tres casos patología vascular cerebral prenatal, y en otros tres infección prenatal por citomegalovirus. La distribución del espectro clínico fue: cinco pacientes con epilepsia clínica aislada; uno con retraso psicomotor o retraso mental (RPM-RM) aislado; uno con trastorno del espectro autista (TEA) aislado; tres con epilepsia asociada a RPM-RM; uno con epilepsia asociada a TEA; dos con RPM-RM y TEA; y dos con la tríada epilepsia junto con RPM-RM y TEA. En un caso, la EMT se descubrió en el estudio de migrañas, sin otros síntomas. Las crisis se controlaron con monoterapia en todos los pacientes que recibieron tratamiento antiepiléptico excepto en tres, uno de los cuales precisó cirugía. Conclusión. El diagnóstico definitivo de EMT es anatomopatológico, pero las nuevas técnicas de neuroimagen han permitido una aproximación diagnóstica muy fiable. Puede asociarse a otros trastornos malformativos, como displasia cortical focal o quistes. La EMT puede observarse en epilepsia (refractaria o no), pero también en TEA, RPM-RM o pacientes asintomáticos (AU)

Introduction. Mesial temporal sclerosis (MTS) is defined as neuron loss and gliosis in the hippocampus and adjacent structures. Here we report on our 19 years’ experience in dealing with this condition. Patients and methods. A retrospective, descriptive study was conducted of patients diagnosed with MTS between May 1990 and January 2009. Results. A diagnosis of MTS was established in 16 cases (62.5% males). By location these cases were distributed as follows: 12 were unilateral (seven left temporal and five right) and four were bilateral. It was associated to cortical dysplasia in six patients (37.5%) and to hippocampal arachnoid cysts in two other cases. As regards possible causations, in one case herpes simplex encephalitis was suspected; in three cases, a prenatal cerebral vascular pathology; and in three others, prenatal infection by cytomegalovirus. The distribution of the clinical spectrum was as follows: five patients with isolated clinical epilepsy; one with isolated psychomotor retardation or mental retardation (PMR-MR); one with isolated autism spectrum disorder (ASD); three with epilepsy associated to PMR-MR; one with epilepsy associated to ASD; two with PMR-MR and ASD; and two with the triad consisting of epilepsy together with PMR-MR and ASD. In one case, MTS was discovered in migraine studies, without any other symptoms. Crises were controlled with monotherapy in all the patients who received antiepileptic treatment except in three, one of whom required surgery. Conclusions. The definitive diagnosis of MTS is pathologic, but the latest neuroimaging techniques have allowed a very reliable approximate diagnosis to be reached. It may be associated to other malformative disorders, such as focal cortical dysplasia or cysts. MTS can be observed in epilepsy (whether refractory or not), but also in ASD, PMR-MR or asymptomatic patients (AU)

Sensación de aceleración del tiempo: problemas diagnósticos / No disponible

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Leucoencefalopatía difusa por infección congénita por citomegalovirus / No disponible

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[Cerebrovascular accidents in paediatric care. Our experience gained over an 18-year period]. / Accidente cerebrovascular en pediatría. Nuestra experiencia de 18 años.

PATIENTS AND METHODS: This study reviews our experience over the last 18 years with paediatric patients diagnosed with non-haemorrhagic cerebrovascular accidents (CVA) after the perinatal period. Data were collected for the period between May 1990 and May 2008 (n = 10 270 children) and special attention was given to cases with no previous pathology. RESULTS: We found 41 cases that were diagnosed with post-natal non-haemorrhagic CVA, of which 13 did not present any known pathology at the onset of the symptoms. Nine patients were diagnosed as having ischaemic CVA (ICVA), three cases had thrombosis of the venous sinuses and there was one case of haemorrhagic infarction (HI). No causation was found in five cases, three of which were heterozygotic for the C677T mutation of methylenetetrahydrofolate reductase. ICVA was caused by fibromuscular dysplasia, aneurysm of the auricular septum and patent foramen ovale, homocystinuria and chickenpox. A recent ear infection and diminished levels of protein C were noted in two cases of venous thrombosis. Five patients with ICVA and the case of HI were treated with oral antiaggregants, anticoagulants were administered in two of the thromboses, and the remaining cases did not receive any treatment. Seven patients (four ICVA, two thromboses and the HI) did not present any kind of sequelae, four ICVA presented different degrees of hemiparesis and two died (one ICVA and one thrombosis). CONCLUSIONS: The scarcity of studies and therapeutic clinical trials in the paediatric age makes it difficult to lay down clear guidelines of conduct, especially from the therapeutic point of view. The different specialists involved must collaborate with each other.