Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness.

Background: Congenital deafness could be the first manifestation of a syndrome such as in Usher, Pendred, and Wolfram syndromes. Therefore, a genetic study is crucial in this deficiency to significantly improve its diagnostic efficiency, to predict the prognosis, to select the most adequate treatment required, and to anticipate the development of other associated clinical manifestations. Case presentation: We describe a young girl with bilateral congenital profound deafness, who initially received a single cochlear implant. The genetic study of her DNA using a custom-designed next-generation sequencing (NGS) panel detected a de novo pathogenic heterozygous variant in the WFS1 gene related to Wolfram-like syndrome, which is characterized by the presence of other symptoms such as optic atrophy. Due to this diagnosis, a second implant was placed after the optic atrophy onset. The speech audiometric results obtained with both implants indicate that this work successfully allows the patient to develop normal speech. Deterioration of the auditory nerves has not been observed. Conclusion: The next-generation sequencing technique allows a precise molecular diagnosis of diseases with high genetic heterogeneity, such as hereditary deafness, while this was the only symptom presented by the patient at the time of analysis. The NGS panel, in which genes responsible for both syndromic and non-syndromic hereditary deafness were included, was essential to reach the diagnosis in such a young patient. Early detection of the pathogenic variant in the WFS1 gene allowed us to anticipate the natural evolution of the disease and offer the most appropriate management to the patient.

Childhood ocular mucous membrane pemphigoid successfully treated with rituximab.

Ocular mucous membrane pemphigoid (MMP) is a chronic autoimmune blistering disease that usually affects elderly patients being extremely rare in pediatric population. Despite aggressive immunosuppressive therapy, ocular MMP may progress causing significant morbidity. Herein, we describe a toddler with ocular MMP successfully treated with rituximab.

Ocular ptosis: differential diagnosis and treatment.

PURPOSE OF REVIEW: The current article provides a brief summary of the clinical approach to congenital and acquired ptosis. An increasing number of publications analyze causes of ptosis or describe diagnostic tests or advances in ptosis genetics. The aim of our work is to summarize these findings and provide an updated algorithm for the diagnosis and treatment of patients with ptosis. This review covers important clinical research and studies relevant for neurologists recently published. RECENT FINDINGS: Ptosis is a common cause of referral to neuromuscular units. Knowledge of the different causes of this symptom has grown substantially in recent years, from diagnostic tests and genetics studies to potential new therapeutic agents, making it essential to keep up to date on the diagnostic and therapeutic relevance of these contributions. SUMMARY: We emphasize that ptosis should be studied as a complex symptom. Efforts should be made to identify accompanying neurologic or ophthalmologic signs in clinical examination that could lead to a diagnosis. A growing number of diagnostics tests are available in the field, especially in genetics. Meanwhile, surgery continues being the most used therapeutic approach for these patients.

Massive Silicone Oil Migration into the Subconjunctival Space: A Leakage Mechanism Dilemma.

PURPOSE: To report a case in which an early, massive silicone oil migration into the subconjunctival space occurred in a patient after sutureless vitrectomy with the presence of a previously implanted pars plana glaucoma drainage device. CASE REPORT: An 80-year-old man presented with neovascular glaucoma secondary to a proliferative diabetic retinopathy in his left eye. After an intracamerular bevacizumab injection and panretinal photocoagulation, a 23-gauge pars plana vitrectomy (PPV) combined with a superotemporal Ahmed pars plana glaucoma valve implantation was performed. Afterwards, the patient underwent a new 23-gauge PPV for a dense vitreous hemorrhage. Intravitreal 1,000 centistokes silicone oil was placed to prevent recurrent intraocular bleeding. No sutures were performed. In the first postoperative month, a massive migration of silicone oil into the 360° subconjunctival space was noted until no intraocular silicone oil was observed. CONCLUSIONS: We discuss the possible leakage mechanisms in this particular case.

Manejo nutricional en un paciente crítico con absceso pulmonar / Nutritional management in a critical patient with pulmonary abscess

Paciente de sexo masculino, de 31 años de edad. Ingreso al servicio de Medicina del Hospital Nacional Daniel Alcides Carrión presentando un cuadro de fiebre, sudoración y expectoración con sangre (hemoptisis); por lo cual es internado de emergencia en dicho servicio. Sala: Medicina 6to piso. Edad: 31 años. Sexo: Masculino. Fecha de ingreso al hospital: 05/11/2013. Fecha de ingreso a servicio: 05/11/2013 Diagnóstico médico: absceso pulmonar izquierdo, hemoptisis.

Male patient, 31 years of age. Join serving Medicine Hospital Nacional Daniel Alcides Carrión presenting with fever, sweating and coughing up blood (hemoptysis), so it is said emergency boarding service. Room: 6th Floor Medicine. Age: 31 years. Gender: Male Date of admission to hospital: 05/11/2013. Date of joining service: 05/11/2013. Medical diagnosis: left lung abscess, hemoptysis.

Manejo nutricional en un paciente crítico con insuficiencia renal aguda con hemodiálisis / Nutritional management in clinically ill patients with acute renal failure on hemodialysis

Paciente de sexo masculino, de 13 años de edad. Ingreso al servicio de la Unidad de Cuidados Intensivos Pediátricos (UCIP) del Hospital Nacional Daniel Alcides Carrión presentando un cuadro de cefalea con antecedente de craneofaringioma, operado en Noviembre del 2011. Portador de un Sistema de Derivación Ventrículo Peritoneal (SDVP). Se le realizaba hemodiálisis incendiario debido a la Insuficiencia Renal Aguda como complicación de la patología presente. Sala: Unidad de Cuidados Intensivos Pediátricos ; Edad: 13 años; Sexo: Maculino; Fecha de ingreso al hospital: 27/06/2012; Fecha de ingreso a servicio: 27/06/2012; Diagnóstico Médico: Síndrome de Derivación Ventrículo Peritoneal. Diabetes insípida, Hipopituitarismo. Sepsis severa. Insuficiencia renal aguda con hemodiálisis.

Male patient, 13 years old. Patient was admitted in the Pediatric Intensive Care Unit (PICU) of the Daniel Alcides Carrion National Hospital presenting headache with a history of craniopharyngioma surgery in November 2011. Patient carries a System Peritoneal Ventricule (SDVP). He has been undergoing a hemodialysis every 2 days due to acute renal failure as a complication of this disease. Room: Pediatric Intensive Care Unit. ; Age: 13 years ; Gender: Male; Hospital admission date: 6/27/2012