Trimetilaminuria primaria o síndrome del olor a pescado: diagnóstico precoz desde atención primaria / Primary trimethylaminuria or fish odour syndrome: early diagnosis from primary care

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Síndrome de Allgrove (triple A). Hallazgo de una mutación no descrita en el gen AAAS / Allgrove syndrome (triple A). Finding of a mutation not described in the AAAS gene

El síndrome de Allgrove (triple A) es una enfermedad autosómica recesiva rara. La tríada clásica incluye insuficiencia adrenal congénita debida a resistencia a la ACTH, acalasia del cardias y alacrimia. Se asocia a anomalías neurológicas, como neuropatía autonómica, sensitiva y motora, sordera, retraso mental, parkinsonismo y demencia. El gen responsable es el AAAS o ADRACALIN, que codifica una proteína llamada ALADIN. Se presenta un caso de un varón de 19 años, valorado con 10 años en nuestro servicio ante la sospecha de enfermedad de depósito. Presenta retraso mental leve y del lenguaje, voz hipernasal, neuropatía sensitivo-motora con afectación autonómica y semiología de paraparesia espástica. Alacrimia. Reflujo gastroesofágico y acalasia. El estudio molecular demostró 2 mutaciones, la p. Tyr 19 Cys no descrita, y la IVS14+1G-A(AU)

Allgrove syndrome (triple A) is a rare autosomal recessive disease. The classic triad includes, congenital adrenal insufficiency due to ACTH resistance, achalasia of the cardia and alacrimia. Neurological abnormalities are associated with autonomic neuropathy, sensory and motor defects, deafness, mental retardation, Parkinsonism and dementia. The gene responsible is the ADRACALIN or AAAS encoding a protein called ALADIN. We report a case of a 19 year-old male, assessed when he was 10 years old in our department due to suspected storage disease. Mild mental and language retardation, hypernasal voice, sensory-motor neuropathy with autonomic involvement and signs of spastic paraparesis, alacrimia. gastroesophageal reflux, and achalasia. Molecular studies showed to mutations, the undescribed p.Tyr 19 Cys, and IVS14 +1 G(AU)

[Allgrove syndrome (triple A). Finding of a mutation not described in the AAAS gene]. / Síndrome de Allgrove (triple A). Hallazgo de una mutación no descrita en el gen AAAS.

Allgrove syndrome (triple A) is a rare autosomal recessive disease. The classic triad includes, congenital adrenal insufficiency due to ACTH resistance, achalasia of the cardia and alacrimia. Neurological abnormalities are associated with autonomic neuropathy, sensory and motor defects, deafness, mental retardation, Parkinsonism and dementia. The gene responsible is the ADRACALIN or AAAS encoding a protein called ALADIN. We report a case of a 19 year-old male, assessed when he was 10 years old in our department due to suspected storage disease. Mild mental and language retardation, hypernasal voice, sensory-motor neuropathy with autonomic involvement and signs of spastic paraparesis, alacrimia. gastroesophageal reflux, and achalasia. Molecular studies showed to mutations, the undescribed p.Tyr 19 Cys, and IVS14 +1 G.

First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS).

Hunter syndrome (mucopolysaccharidosis type II [MPS II], OMIM309900) is a rare X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulphatase, resulting in accumulation of glycosaminoglycans (GAGs), multisystem organ failure and early death. Enzyme replacement therapy (ERT) with idursulfase is commercially available since 2007. Early access programs were established since 2005. However, limited information on the effects of ERT in young children is available to date. The aim of this analysis was therefore to determine the effects of ERT on patients younger than 5 years of age. We report data from six Spanish patients with confirmed Hunter syndrome who were younger than 5 years at the start of ERT, and had been treated with weekly intravenous infusions of idursulfase between 6 and 14 months. Baseline and treatment data were obtained from the Hunter Outcome Survey (HOS). HOS is an international database of MPS II patients on ERT or candidates to be treated, that collects data in a registry manner. HOS is supported by Shire Human Genetic Therapies, Inc. (Cambridge, MA, USA). At baseline, all patients showed neurological abnormalities, including ventriculomegaly, hydrocephaly, cerebral atrophy, perivascular changes and white matter lesions. Other signs and symptoms included thoracic deformity, otitis media, joint stiffness and hepatosplenomegaly, demonstrating that children under 5 years old can also be severely affected. ERT reduced urinary GAG levels, and reduced spleen (n = 2) and liver size (n = 1) after only 8 months. Height growth was maintained within the normal range during ERT. Joint mobility either stabilized or improved during ERT. In conclusion, this case series confirms the early onset of signs and symptoms of Hunter syndrome and provides the first evidence of ERT beneficial effects in patients less than 5 years of age. Similar efficacy and safety profiles to those seen in older children can be suggested, although further studies including a direct comparison with older patients would still be required.

[Digestive malformations and their associations to syndrome condition and genetic defects]. / Malformaciones digestivas y su asociación a patología sindrómica y defectos genéticos.

INTRODUCTION: The incidence of disease syndromes and genetic defects in patients with malformations is much higher than in the general population. We reviewed our experience in infants with gastrointestinal malformations to know the incidence of genetic defects and syndromic presentation, for purposes of carrying out the most complete assessment and treatment. MATERIAL AND METHODS: We recruited 161 patients with one or more malformations or congenital gastrointestinal pathology. We evaluated: type of malformation (isolated or syndromic), association with polimalformative complex, genetic testing and its results. RESULTS: The main diagnosis, from highest to lowest incidence, is intestinal malrotation (17.18%), Hirschsprung's disease (13.64%), Meckel's diverticulum (13.14%), oesophageal atresia (12.13%), anorectal malformation (11.12%), diaphragmatic hernia (6.57%), duodenal atresia (5.56%), small bowel atresia (4.55%), omphalocele (4.04), and other (12.07%). In 45.3% the malformation is not isolated. 27.4% appear as syndrome, 4.1% as development defect and 2.7% as association. Genetic study was performed in 30.43%, detecting defects in 36.7% of the studies. Down syndrome (n = 8) is the most frequent. DISCUSSION AND CONCLUSIONS: Our experience with these patients is similar to that provided in the literature. We consider that it is important to identify any associated anomalies, especially heart disease, craniofacial anomalies and other gastrointestinal malformations, because they condition the patient's management. Pathologies that are often associated with other defects require more effort for their detection. The knowledge of these patients is essential for correct treatment.

[Esophageal atresia in the Goldenhar syndrome]. / Atresia de esófago en el síndrome de Goldenhar.

Among the multiple congenital defects associated to esophagueal atresia, the characteristic ones of the Goldenhar syndrome usually are not included. The high incidence has been reported, about 5% of esophagueal atresia in patients with Goldenhar syndrome. Our experience includes two patients with this association who presented anesthetic problems and surgical complications associated with gastroesophageal reflux and esophageal anastomosis.

Malformaciones digestivas y su asociación a patología sindrómica y defectos genéticos / Digestive malformations and their associations to syndrome condition and genetic defects

Introducción. La incidencia de patología sindrómica y defectos genéticos en pacientes con malformaciones digestivas es muy superior a la de la población general. Revisamos nuestra experiencia en neonatos con malformaciones o patología digestiva congénita para conocer la incidencia en ellos de defectos genéticos y presentación sindrómica, a efectos de realizar su valoración y tratamiento más completos. Material y métodos. Se reclutan 161 pacientes atendidos por presentar este tipo de patología. Se valora: tipo de malformación (aisladao sindrómica), asociación a complejos polimalformativos reconocidos, realización de estudio genético y sus resultados. Resultados. El diagnóstico principal, de mayor a menor incidencia, es mal rotación intestinal (17,18%), enfermedad de Hirschsprung (..) (AU)

Introduction. The incidence of disease syndromes and genetic defects in patients with malformations is much higher than in the general population. We reviewed our experience in infants with gastrointestinal malformations to know the incidence of genetic defects and syndromic presentation, for purposes of carrying out the most complete assessment and treatment. Material and methods. We recruited 161 patients with one or more malformations or congenital gastrointestinal pathology. We evaluated: type of malformation (isolated or syndromic), association with polimalformative complex, genetic testing and its results. Results. The main diagnosis, from highest to lowest incidence, is (..) (AU)

Atresia de esófago en el síndrome de Goldenhar / Esophageal atresia in the goldenhar syndrome

Entre los múltiples defectos congénitos asociados a la atresia de esófago no suelen incluirse los característicos del síndrome de Goldenhar. Sí se ha comunicado la relativa alta incidencia, aproximadamente del 5%, de atresia de esófago en pacientes con síndrome de Goldenhar. Nuestra experiencia incluye dos pacientes con esta asociación que presentan problemas anestésicos y complicaciones quirúrgicas relacionados con la anastomosis esofágica y el reflujo gastroesofágico (AU)

Among the multiple congenital defects associated to esophagueal atresia, the characteristic ones of the Goldenhar syndrome usually are not included. The high incidence has been reported, about 5% of esophagueal atresia in patients with Goldenhar syndrome. Our experience includes two patients with this association who presented anesthetic problems and surgical complications associated with gastroesophageal reflux and esophageal anastomosis (AU)

Cromosomopatías por microdeleción: fenotipos principales / Chromosome disorders due to microdeletion: Principal phenotypes

Existen deleciones submicroscópicas que pueden afectar a un solo gen o a varios genes muy próximos. Por este motivo los cuadros clínicos a que dan lugarse denominan síndromes de microdeleción o de genes contiguos. Habitualmente son esporádicos, pero a veces pueden simular una herencia mendelina. Existe una serie de fenotipos clásicos bien conocidos aunque con el desarrollo de las técnicas de biología molecular, (sobre todo los estudios con microarrays) se están describiendo nuevos fenotipos reconocibles como síndromes (AU)

Submicroscopic deletions can affect one or several genes in a chromosome and the resulting abnormal phenotypes are called microdeletion or contiguous gene syndromes. They are usually sporadic, but some of them may simulate a mendelian pattern of inheritance. There are some well known phenotypes, but new phenotypes are being reported after the rutinary use of new molecular diagnosis techniques, specially the microarray studies (AU)

Feocromocitoma asociado a síndrome paraganglionar / Phaeochromocytoma associated with a paraganglion syndrome

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First report of a patient with a mixoploidy 47,XXX/94,XXXXXX.

We present a 16 years old female with a chromosomal mixoploidy and multiple phenotypic anomalies. Peripheral blood G-band karyotype was 47,XXX and her skin fibroblast karyotype revealed a mosaic with a 47,XXX cell line in 88% of metaphases and a 94,XXXXXX cell line in 12% of metaphases, consistent with a hypertetraploidy. The most prominent clinical signs were: short stature, left upper limb asymmetry, senile-like appearance, generalized hypertrichosis, and small hands and feet. Radiological examination showed bone dysplasia. The result of molecular studies demonstrated that the patient inherited the two X chromosomes from the mother and one from the father, indicating that her 47,XXX trisomy resulted from an oogenesis error in the first meiotic division. The 94,XXXXXX cell line was likely the result of a cytokinesis error. To our knowledge, this is the first documented patient with a trisomy and a hypertetraploidy.

[Familial adenomatous polyposis: Gardner's syndrome]. / Poliposis adenomatosa familiar: síndrome de Gardner.

Familial adenomatous polyposis (PAF) associated to soft tissue tumors or osteomas constitutes the Gardner's syndrome of autosomal dominant inheritance. The risk of colorectal cancer in these patients is 100%. We present a patient with Gardner's syndrome who was had colectomy at early age. An eleven years old boy he was evaluated due to a family history of PAF and subcutaneous tumors (occipital and left thigh). Genetic profile shows a mutation in gene APC and the colonoscopy confirms the polyposis; the biopsy also suggested moderate dysplasia. When the patient reached the age of twelve, a total colectomy with colorectal mucosectomy was performed. Cystic subcutaneous lesions (epidermoid cysts) were also excised. In the postoperative period there were no complications. The prophylactic colectomy, is the only effective treatment to prevent the colorectal cancer. Gardner's syndrome patients requires periodic controls to rule out the appearance of new tumors or anomalies in the retine. The duodenoscopy is essential in the follow up of these patients because of the frequency of duodenal affectation.

Poliposis adenomatosa familiar: síndrome de Gardner / Familial adenomatous polyposis: Gardner´s syndrome

La asociación de poliposis adenomatosa familiar (PAF) con tumores de tejidos blandos u óseos constituye el síndrome de Gardner, de herencia autosómica dominante. Estos pacientes tienen un riesgo de cáncer de colon de un 100%. Se presenta un paciente con síndrome de Gardner al que se le practicó colectomía a una edad temprana. Niño de 11 años, remitido por antecedentes familiares de PAF y tumoraciones subcutáneas (occipital y en muslo izquierdo). El estudio genético demuestra mutación del gen APC y la colonoscopia confirma la poliposis, observando en la biopsia displasia moderada. A los 12 años se practica colectomía total con mucosectomía y exéresis de las lesiones subcutáneas (quistes epidermoides). El postoperatorio cursa sin complicaciones. La colectomía profiláctica es el único tratamiento eficaz para prevenir el cáncer de colon. Estos pacientes requieren controles periódicos para descartar la aparición de nuevas tumoraciones o anomalías en la retina. La duodenoscopia es imprescindible en el seguimiento de estos pacientes dada la frecuente afectación duodenal (AU)

Familial adenomatous polyposis (PAF) associated to soft tissue tumors or osteomas constitutes the Gardner´s syndrome of autosomal dominant inheritance. The risk of colorectal cancer in these patients is 100%. We present a patient with Gardner´s syndrome who was had colectomy at early age. An eleven years old boy he was evaluated due to a family history of PAF and subcutaneous tumors (occipital and left thigh).Genetic profile shows a mutation in gene APC and the colonoscopy confirms the polyposis; the biopsy also suggested moderate dysplasia. When the patient reached the age of twelve, a total colectomy with colorectal mucosectomy was performed. Cystic subcutaneous lesions (epidermoid cysts) were also excised. In the postoperative period there were no complications. The prophylactic colectomy, is the only effective treatment to prevent the colorectal cancer. Gardner’s syndrome patients requires periodic controls to rule out the appearance of new tumors or anomalies in the retine. The duodenoscopy is essential in the follow up of these patients because of the frequency of duodenal affectation (AU)

Diagnóstico del síndrome 9p- al nacimiento. Una nueva observación / Diagnosis of 9p- syndrome at birth. A new case

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[De novo partial duplication of the distal segment of the long arm of chromosome 5 (q31--> qter). Report of a new case]. / Duplicación parcial de novo del segmento distal del brazo largo del cromosoma 5 (q31 --> qter).

We report a case of de novo partial duplication of the distal segment of the long arm of chromosome 5 (q31--> qter). The patient showed dysmorphic features (flat face, short and horizontal palpebral fissures, depressed and broad nasal bridge, wide nose with hypoplastic alae nasae, short and flat philtrum, high arched palate, micrognathia, anomalies of the ears), redundant adipose panniculus of the neck, proximal shortening of the limbs, flexion contractures, long and distally widened fingers, bilateral clubfoot, single umbilical artery, hypoplasia of lung and pulmonary arteries, atrial septal defect and patent ductus arteriosus. She died 23 hours after birth from respiratory failure. Chromosome analysis with high resolution GTG bands showed 46,XX,1p1, which was interpreted as a partial duplication of the distal long arm of chromosome 5 (q31--> qter). Fluorescence in situ hybridization analyses with whole chromosome painting technique for chromosome 5 proved that this extra region belonged to chromosome 5. Our case is the first to have a de novo partial duplication of this chromosome segment.