A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review.

Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by low cortisol levels despite elevated adrenocorticotropin (ACTH). Mineralocorticoid secretion is classically normal. Clinical manifestations are secondary to low cortisol levels (recurrent hypoglycemia, chronic asthenia, failure to thrive, seizures) and high levels of ACTH (cutaneous-mucosal hyperpigmentation). FGD is often caused by mutations in the ACTH melanocortin 2 receptor gene (MC2R, 18p11.21, FGD type 1) or melanocortin receptor 2 accessory protein gene (MRAP, 21q22.11, FGD type 2). But mutations have also been described in other genes: the steroidogenic acute regulatory protein (STAR, 8q11.2q13.2, FGD type 3), nicotinamide nucleotide transhydrogenase (NNT, 5p12, FGD type 4) and thioredoxin reductase 2 genes (TXNRD2, 22q11.21, FGD type 5). We report the case of a 3-year-old boy recently diagnosed with FGD type 4 due to a novel mutation in NNT gene. A homozygous variant in exon 18 of the NNT gene, NM_012343.3:c.2764C>T, p.(Arg922*), determines a stop codon and, consequently, a non-functional truncated protein or absence of protein due to the nonsense-mediated decay (NMD) mechanism. We review the recent literature on NNT mutations and clinical presentations, which are broader than suspected. This disorder can result in significant morbidity and is potentially fatal if untreated. Precise diagnosis allows correct treatment and follow-up.

Lesiones vesiculares, no siempre son varicela / Bladders, not always varicela

El impétigo ampolloso o bulloso es una enfermedad infectocontagiosa de la piel, causada por Staphylococcus aureus y mediada por toxina. Se caracteriza por la aparición de ampollas flácidas sobre lesiones vesiculares iniciales. Es importante el diagnóstico diferencial en estadios iniciales con otras patologías que cursan con lesiones vesiculosas, como la varicela. La elección del tratamiento se basa en la extensión, localización y profundidad de las lesiones, utilizando siempre antibioterapia contra S. aureus y comprobando la sensibilidad antibiótica debido a la creciente prevalencia de S. aureus resistente a la meticilina (SARM) (AU)

Bullous impetigo is an infectious-contagious skin disease toxin-mediated, caused by Staphylococcus aureus. It’s characterized by the appearance of flaccid blisters on initial vesicular lesions. It’s important the differential diagnosis with other diseases involving vesicular lesions, such as chickenpox in early stages. The choice of treatment is based on the extent, location and depth of the lesions, always using antibiotic therapy against S. aureus and checking antibiotic sensitivity due to the increasing prevalence of MRSA (methicillin resistant S. aureus) (AU)

Hipotonía en un lactante por atrofia muscular espinal / Hypotonia in an infant due to spinal muscular atrophy

La hipotonía en el lactante es un signo inespecífico de la exploración física que puede aparecer en el contexto de múltiples enfermedades. La detección precoz desde Atención Primaria a través de las revisiones de salud es fundamental. Una adecuada historia clínica, junto con una exploración neurológica adaptada a la edad que permita distinguir entre hipotonía central y periférica, van a ser claves en la aproximación diagnóstica inicial. Presentamos el caso de un lactante de un mes de vida con hipotonía. Se confirma el diagnóstico de atrofia muscular espinal, una entidad poco frecuente cuyo pronóstico ha mejorado debido al descubrimiento de nuevas estrategias terapéuticas (AU)

Infant hypotonia is a nonspecific sign on physical examination that may appear in multiple diseases. Early detection from primary care through health reviews is necessary. An adequate clinical history with an age-adapted neurological examination to distinguish between central and peripheral hypotonia, will be key in the initial diagnostic approach. We present the case of a one-month-old infant with hypotonia. The diagnosis of spinal muscular atrophy is confirmed, a rare entity whose prognosis has improved due to (AU)the discovery of new therapeutic strategies.

Rigidez de nuca, ¿siempre neurológico? Pensemos algo más / Stiff neck, is it always neurological? Let's think about something else

Las complicaciones supurativas de la faringoamigdalitis aguda no tratada o inadecuadamente tratada son infrecuentes. Destacan, por su potencial gravedad, el absceso retrofaríngeo y parafaríngeo. Por su presentación clínica como limitación de movilidad cervical o rigidez de nuca en contexto infeccioso, pueden plantear la sospecha inicial de meningitis aguda. Por ello, es necesario que los profesionales sanitarios conozcan las características clínicas y la evolución de estas complicaciones, para así actuar de manera correcta, precoz y eficaz, debido a su potencial gravedad. A continuación, se presentan dos casos de complicaciones supurativas del área otorrinolaringológica que debutaron con clínica cervical: rigidez de nuca o limitación de la movilidad, y que suponen un reto diagnóstico

Suppurative complications of untreated or improperly treated acute pharyngotonsillitis are uncommon. Because of its potential severity, retropharyngeal and parapharyngeal abscess are important. Due to their clinical presentation as a limitation of cervical mobility and/or neck stiffness in an infectious context, they can raise the initial suspicion of acute meningitis. For that, it is necessary for health professionals to know the clinical characteristics and the evolution of these complications, in order to act correctly, early and effectively, due to their potential severity. Below we present two cases of suppurative complications of the otorhinolaryngology area that debuted with a cervical clinic, either with neck stiffness or limited mobility, posing a diagnostic challenge

Genetic association study of age-related macular degeneration in the Spanish population.

PURPOSE: To investigate new genetic risk factors and replicate reported associations with advanced age-related macular degeneration (AMD) in a prospective case-control study developed with a Spanish cohort. METHODS: Three hundred and fifty-three unrelated patients with advanced AMD (225 with atrophic AMD, 57 with neovascular AMD, and 71 with mixed AMD) and 282 age-matched controls were included. Functional and tagging SNPs in 55 candidate genes were genotyped using the SNPlex™ genotyping system. Single SNP and haplotype association analysis were performed to determine possible genetic associations; interaction effects between SNPs were also investigated. RESULTS: In agreement with previous reports, ARMS2 and CFH genes were strongly associated with AMD in the studied Spanish population. Moreover, both loci influenced risk independently giving support to different pathways implicated in AMD pathogenesis. No evidence for association of advanced AMD with other previous reported susceptibility genes, such as CST3, CX3CR1, FBLN5, HMCN1, PON1, SOD2, TLR4, VEGF and VLDLR, was detected. However, two additional genes appear to be candidate markers for the development of advanced AMD. A variant located at the 3' UTR of the FGF2 gene (rs6820411) was highly associated with atrophic AMD, and the functional SNP rs3112831 at ABCA4 showed a marginal association with the disease. CONCLUSION: We performed a large gene association study in advanced AMD in a Spanish population. Our findings show that CFH and ARMS2 genes seem to be the principal risk loci contributing independently to AMD in our cohort. We report new significant associations that could also influence the development of advanced AMD. These findings should be confirmed in further studies with larger cohorts.

Combined photodynamic therapy and intravitreal triamcinolone acetonide for the treatment of myopic subfoveal choroidal neovascularization.

PURPOSE: To evaluate visual acuity changes and safety of combined treatment with photodynamic therapy (PDT) and intravitreal triamcinolone acetonide (IVTA) in myopic eyes with choroidal neovascularization (CNV). DESIGN: Prospective interventional case series. METHODS: Twelve eyes of 12 patients with subfoveal myopic CNV were treated with PDT followed by IVTA within a week. Changes in visual acuity and possible complications related to the combined therapy were assessed in periodic visits. RESULTS: After combined therapy, a significant increase in mean visual acuity was observed at one, three, and six months. A significant increase of mean intraocular pressure was observed after seven days, one month, and three months. Ten patients (83%) required topical antiglaucomatous therapy during follow-up. CONCLUSIONS: The combination of PDT and IVTA may increase the possibility of improving or stabilizing visual acuity in patients with subfoveal myopic CNV, but further studies are needed to asses the effects of this treatment.