RESUMEN
The anti-Hu syndrome is a well-known paraneoplastic syndrome and may be rarely seen in patients with neuroblastoma. However, it is relatively unknown that anti-Hu antibodies can cause gastro-intestinal signs and symptoms. We report on a child with neuroblastoma who presented with gastro-intestinal disturbances as a result of the anti-Hu syndrome and summaries two similar case reports reported in literature. Neuroblastoma patients with gastro-intestinal disturbances, ranging from constipation to a paralytic ileus, might suffer from the gastro-intestinal anti-Hu syndrome. The causative antibodies can be determined to diagnose or exclude this syndrome, and successful treatment is possible.
Asunto(s)
Autoanticuerpos/inmunología , Proteínas ELAV/inmunología , Enfermedades Gastrointestinales/complicaciones , Enfermedades Gastrointestinales/diagnóstico , Neuroblastoma/complicaciones , Síndromes Paraneoplásicos/complicaciones , Síndromes Paraneoplásicos/diagnóstico , Autoanticuerpos/análisis , Preescolar , Enfermedades Gastrointestinales/inmunología , Humanos , Masculino , Neuroblastoma/diagnóstico , Síndromes Paraneoplásicos/inmunologíaRESUMEN
2 newborns, boys weighing 1400 and 950 g, died 2 and 8 hours after birth respectively. Autopsy was not permitted but MRI was possible. In the first newborn, characteristic abnormalities ofa Potter's sequence were found: pulmonary hypoplasia, missing kidneys and ureters and a rudimentary bladder. Clinically, a small chest, low-positioned ears, a flattened nose, a retracted chin, contractures of both knees and a talipes equinus of both feet had already been observed. In the second newborn, an MRI scan of the skull revealed a torn cerebellar tentorium with intracranial bleeding. The cause of death in newborns is often unknown. Autopsy is the gold standard for determining the cause of death. However for a variety of reasons, many parents do not give informed consent for autopsy. In such cases, post-mortem MRI may be an alternative. Abnormalities ofthe central nervous system, muscles and internal organs can usually be clearly visualized using MRI. However, the diagnosis of cardiac abnormalities using this technique is more difficult.
Asunto(s)
Causas de Muerte , Recién Nacido , Imagen por Resonancia Magnética/métodos , Autopsia , Diagnóstico Diferencial , Humanos , MasculinoRESUMEN
BACKGROUND: Idiopathic (primary) hypertrophic cardiomyopathy (HCM) is mainly caused by mutations in genes encoding sarcomeric proteins. One of the most commonly mutated HCM genes is the myosin binding protein C (MYBPC3) gene. Mutations in this gene lead mainly to truncation of the protein which gives rise to a relatively mild phenotype. Pure HCM in neonates is rare and most of the time childhood HCM occurs in association with another underlying condition. OBJECTIVE: To study the presence of mutations in the MYBPC3 gene in idiopathic childhood HCM. METHODS: MYBPC3 coding region and splice junction variation were analysed by denaturing high performance liquid chromatography (DHPLC) and sequencing in DNA isolated from two neonates with severe unexplained HCM, who died within the first weeks of life. RESULTS: Truncating mutations were found in both alleles of the MYBPC3 gene in both patients, suggesting there was no functional copy of the MYBPC3 protein. Patient 1 carried the maternally inherited c.2373_2374insG mutation and the paternally inherited splice-donor site mutation c.1624+1G-->A. Patient 2 carried the maternally inherited frameshift mutation c.3288delA (p.Glu1096fsX92) and the paternally inherited non-sense mutation c.2827C-->T (p.Arg943X). CONCLUSIONS: The findings indicate the need for mutation analysis of genes encoding sarcomeric proteins in childhood HCM and the possibility of compound heterozygosity.
Asunto(s)
Cardiomiopatía Hipertrófica/etiología , Cardiomiopatía Hipertrófica/genética , Proteínas Portadoras/genética , Codón sin Sentido , Análisis Mutacional de ADN , Femenino , Heterocigoto , Humanos , Recién Nacido , Masculino , Miocardio/patología , LinajeRESUMEN
Three children, two boys aged 5 years and one 2-year-old girl, who were referred because of abdominal pain of variable duration, were found to have cystic malformations that arose from the pancreas. In the first boy, a traumatic pseudocyst was found that eventually turned out to have been caused by child abuse. The second boy had pseudocysts complicating chronic pancreatitis of presumably hereditary origin. In the girl, a congenital pancreatic cyst was found. Pancreatic disease, although rare, should be considered in the differential diagnosis of abdominal pain in children.
Asunto(s)
Dolor Abdominal/etiología , Seudoquiste Pancreático/diagnóstico , Maltrato a los Niños , Preescolar , Enfermedad Crónica , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Seudoquiste Pancreático/congénito , Seudoquiste Pancreático/etiología , Pancreatitis/complicaciones , Pancreatitis/genéticaRESUMEN
A 12.5-year-old girl with diabetes mellitus type 1 presented with stunted growth and an increase in body weight. Also, her blood-sugar levels were difficult to manage. An adrenocorticotropin-(ACTH)-independent form of Cushing's syndrome was diagnosed. During the dexamethasone-suppression test, a paradoxical increase in urinary-free cortisol excretion was observed, which is a clear indication of primary pigmented nodular adrenocortical disease (PPNAD). The treatment for patients with PPNAD is bilateral adrenalectomy and hormone substitution. PPNAD may be part of the Carney complex, an autosomal dominant multiple neoplasia syndrome. Screening of family members is mandatory. Further investigation for mutations in the gene encoding the regulatory subunit 1A of the protein kinase A (PRKAR1A) may be helpful.
Asunto(s)
Enfermedades de la Corteza Suprarrenal/diagnóstico , Síndrome de Cushing/diagnóstico , Mutación , Enfermedades de la Corteza Suprarrenal/genética , Enfermedades de la Corteza Suprarrenal/patología , Enfermedades de la Corteza Suprarrenal/cirugía , Adrenalectomía , Hormona Adrenocorticotrópica/metabolismo , Niño , Síndrome de Cushing/genética , Síndrome de Cushing/patología , Síndrome de Cushing/cirugía , Proteínas Quinasas Dependientes de AMP Cíclico/genética , Dexametasona , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/complicaciones , Femenino , Humanos , Hidrocortisona/orinaRESUMEN
OBJECTIVE: The presentation of sonographic and perinatal findings of tetrasomy 9p. METHODS AND RESULTS: Chorionic villus sampling and amniocentesis were performed at 19 weeks of gestation because of the sonographic findings of Dandy-Walker malformation with bilateral ventriculomegaly. Cytogenetic analysis showed 47,XX,+i psu dic(9)(pter->q12::q12>-pter). The pregnancy was terminated at 20 weeks of gestation at the request of the parents. At post-mortem examination, the presumed hypoplasia of the vermis could not be confirmed for technical reasons. No other pathological findings were seen. CONCLUSION: From our experience and from the literature, we conclude that Dandy-Walker malformation is an important finding in tetrasomy 9p. Chromosomal studies should be carried out in fetuses with sonographically detected Dandy-Walker malformation, even in the absence of other abnormalities.
Asunto(s)
Cromosomas Humanos Par 9 , Análisis Citogenético/métodos , Síndrome de Dandy-Walker/diagnóstico , Enfermedades Fetales/diagnóstico , Diagnóstico Prenatal , Adulto , Líquido Amniótico/citología , Aneuploidia , Síndrome de Dandy-Walker/diagnóstico por imagen , Síndrome de Dandy-Walker/embriología , Síndrome de Dandy-Walker/genética , Femenino , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/genética , Edad Gestacional , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Embarazo , Ultrasonografía Prenatal/métodosRESUMEN
A grandmother, her three children, and three grandchildren had skeletal abnormalities consisting of a short stature, bilateral symmetrical very short, broad and bowed radii, very short and broad ulna, mildly short lower legs, short proximal end of fibula, abnormal ankles, abnormal calcaneus and talus and pes equinus. They had normal craniofacial features, normal intelligence and normal chromosomes. We concluded that this skeletal dysplasia resembles the autosomal dominant mesomelic dysplasia, Kantaputra type. Prenatal diagnosis by ultrasound examination early in the pregnancy was possible. We found no evidence for a SHOX gene deletion or point mutation. As far as we know this is the third reported family with this skeletal dysplasia.