Anoniquia Congénita Asociada a Herencia Autosómica Dominante, Síndrome de Cooks

Resumen El síndrome de Cook fue descrito por primera vez por Cook y colaboradores en 1985. Este se caracteriza por una historia familiar de hipoplasia congénita de las uñas de las manos en los dígitos 1,2 y 3, ausencia de las uñas en los dígitos 4 y 5, braquidactilia del digito 5 de las manos y ausencia complete de las uñas de los pies. Además, puede existir una hipoplasia o ausencia de las falanges distales en los pies y las manos. La oficina de enfermedades raras del Instituto Nacional de Salud, considera este síndrome como una "enfermedad rara". Presentamos el caso de un recién nacido con anoniquia congénita en ambas manos y pies en el digito 2 asociado a hipoplasia ungueal en dígitos 1 y 3 respetando dígitos 4 y 5. La radiografía de los dedos no muestra anormalidades en las falanges. Este caso podría representar una variante del síndrome de Cook o una nueva enfermedad aun no descrita debido a la existencia de una historia familiar importante con similares deformidades en la madre, la abuela y la hermana.

Abstract Cooks syndrome, which was first reported by Cooks et al in 1985. It is characterized by family history of bilateral congenital nail hypoplasia of digits 1,2 and 3, with absence of nails in digits 4, 5, and brachydactyly of digit five of the hands and complete absence of all toenails. In addition, there is hypoplasia or absence of distal phalanges of the hands and feet. According to the Office of rare Diseases of the National Institutes of Health, this syndrome is considered as a "rare disease". We present a newborn child with a history of congenital anonychia in digit 2 in both hands and feet and nail hypoplasia in digits 1 and 3 sparing digits 4 and 5. Radiography of the fingers shows no abnormalities in the phalanges. This case could represent a variant of Cooks syndrome or a new disease not yet described because of the existence of an important family history with similar deformities in the mother, grandmother and sister.

Covid-19, una mirada desde la pediatría / Covid-19, a look from pediatrics

El COVID-19 fue predominantemente más prevalente entre adultos mayores de 15 años en las primeras etapas del brote y la proporción de casos confirmados entre niños fue relativamente menor. Sin embargo, debido a la creciente propagación mundial del SARS-CoV-2, tenemos nuevos desafíos para la prevención y el control de la epidemia de COVID-19 entre los niños. Ya que en los más pequeños no se pueden emplear medidas de prevención (barbijos), la clínica inespecífica que presentan, las dificultades para el diagnóstico, la deficiente comunicación entre médico-paciente y familiar que han contribuido al desafío de desarrollar medidas para proteger a esta población, al igual que al personal de salud que manejan casos pediátricos. Al mismo tiempo, los niños con comorbilidades, s on vulnerables a la infección por SARS-CoV-2. La presente revisión intenta mostrar esta enfermedad desde el punto de vista pediátrico, para orientar en su diagnóstico y manejo.

COVID-19 was predominantly more prevalent among adults over the age of 15 in the early stages of the outbreak, and the proportion of confirmed cases among children was relatively lower. However, because younger children cannot wear chinstraps and no other preventive measures have been taken in this group. Children have certain peculiarities and we cannot clearly demonstrate their state of health, which has contributed to the serious challenge of protecting, diagnosing and treating this population. Due to the increasing worldwide spread of SARS-CoV-2, we have new challenges for the prevention and control of the COVID-19 epidemic among children. At the same time, children with comorbidities are vulnerable to SARS-CoV-2 infection. The present review tries to show this disease from the pediatric point of view, to guide its diagnosis and management.

Neurosífilis / Neurosyphilis

Durante muchas décadas la sífilis y neurosifilis han sido consideradas condiciones poco frecuentes. Con el advenimiento del virus de inmunodeficiencia humana la incidencia de estas enfermedades se ha incrementado. La neurosifilis puede estar presente tanto en estadios tempranos como tardíos de sífilis; sus manifestaciones clínicas son variadas y dependerán de la respuesta del huésped y la duración de la exposición a esta espiroqueta; estas pueden ir desde meningitis asintomática, meningoencefalitis hasta eventos cerebrales vasculares y condiciones más crónicas como tabes dorsalis y/o demencia sifilítica. La esencia del enfoque diagnóstico es un alto índice de sospecha en pacientes con factores de riesgo. La sola presencia de pruebas no treponémicas no son diagnósticos de neurosifilis sino serán necesarios la confirmación con pruebas treponémicas junto con anormalidades en liquido cefalorraquídeo y la presencia de VDRL o RPR en el mismo. La piedra angular en el tratamiento de sífilis y neurosifilis continúan siendo dosis altas de penicilina y alternativamente doxicilina o ceftriaxona.

For decades syphilis and neurosyphilis were considered infrequent conditions; however with the advent of the human immunodeficiency virus the incidence of both diseases have increased. Neurosyphilis could be present in early or late stages of syphilis; the clinical manifestations are varied and will depend on the host response and the length of exposure to the spirochete; this could range from asymptomatic meningitis, to meningoencephalitis, strokes and more chronic conditions such as tabes dorsalis or syphilitic dementia. The key diagnostic approach is a high index of suspicion in patients with risk factors. The only presence of non treponemal studies is not diagnostic of neurosyphilis; it will be necessary to confirm it with treponemal serology and abnormalities in the cerebrospinal fluid (CSF) and positive VDRL and RPR in CSF. The cornerstone of treatment of neurosyphilis is still high doses penicillin and alternatively doxycycline or ceftriaxone.

Current role of community-acquired methicillin-resistant Staphylococcus aureus among children with skin and soft tissue infections.

Community-acquired methicillin-resistant Staphylococcus aureus has become a well-established pathogen with alarming rates during the last decade. The current situation of this bacteria in pediatric infections is very limited and motivated us to conduct this study. This is a retrospective and analytical study including patients less than 18 years of age with the diagnosis of skin or soft tissue infections in 2008 and 2009 meeting the criteria of Community-acquired infection. A prevalence of 41.9% among skin and soft tissue infections was found. Inducible resistance to clindamycin was detected in 1.3% of the strains and the infection shows a seasonal predilection for summer (P=0.003); 57.8% of the cases required hospitalization with a mean stay of 3.3±2.5 days. The susceptibility to clindamycin and co-trimoxazole is 88 and 97% respectively. The resistance to erythromycin has reached 92%. The main diagnoses at presentation was gluteal abscess plus cellulitis (34.2%).The prevalence of CA-MRSA is trending up and seems to become a large burden for the health system in our community. Clindamycin is still an excellent option in the community setting since inducible clindamycin resistance is extremely low in this community. Co-trimoxazole should be kept as a reserved drug to avoid the rapid resurgence resistance in the community.

Febrile seizures: current role of the laboratory investigation and source of the fever in the diagnostic approach.

OBJECTIVES: The aim of this study was to analyze the value of performing laboratory tests, taking cultures, and imaging, a diagnostic approach for febrile seizures (FSs) still routinely performed despite the American Academy of Pediatrics recommendations not to. Another aim of this study was to identify the most common sources of fever in patients with FSs and to determine whether the occurrence of FSs correlates with the seasons of the year. METHODS: This is a retrospective study that included all patients diagnosed with simple or complex FSs who were seen in the emergency room or inpatient unit from January 2004 to December 2009. RESULTS: Of the 219 patients included in the study, 135 (61.4%) cases had the etiology of the FS diagnosed. Upper respiratory tract infection, otitis media, urinary infection, and pneumonia were the most common diagnoses attributed to the fever. Leukocytosis was present in 48 (24%) of 219, and neutrophilia in 199 (91%) of 219 cases. Low bicarbonate levels were common among every age group. Only 1 blood culture was positive for Salmonella. The incidence of FS was higher during the winter (49.3% of the cases), and it closely paralleled the seasonal variation of viral infections. CONCLUSIONS: Even though laboratory tests, taking cultures, and imaging are performed in daily practice when approaching FSs, the association of FSs with serious infectious disease is rare and usually overestimated. The diagnostic approach should be individualized to each case and correlated with available data like that shown in this study. Parents should be educated with the knowledge that the occurrence of FSs tends to be higher in winter.

Group B streptococcus endocarditis associated with multiple pulmonary septic emboli.

Endocarditis is a rare presentation of group B streptococcal infection. Its association with pulmonary septic embolism was only barely studied and limited data is available up to date. Multiple septic emboli is a common complication of bacterial endocarditis, but only a few cases have been documented in relation to group B streptococcus. We present the case of an 87 year old female patient with multiple underlying conditions that predisposed the development of bacterial endocarditis secondary to group B streptococcus and subsequently multiple pulmonary septic emboli. The patient was treated with ceftriaxone and azythromycin with good response and complete recovery without any further complications. In the event of a diagnosed case of group B streptococcus endocarditis, there should be a low threshold for the suspicion of septic pulmonary emboli especially in cases with right valves involvement.

Silver nitrate ingestion: report of a case with an uneventful course and review of the literature.

Silver nitrate is commonly recognized for the toxic effects followed by the direct contact with the skin and mucosa known as argyria, but there is surprisingly little information about the adverse effects of silver nitrate after ingestion. Since only a few cases were reported in the literature, the aim of this case is to enrich the little experience existent about the possible effects of silver nitrate ingestion. We describe the case of a 15-year-old female who intentionally ingested 15cc of silver nitrate solution in a suicidal attempt. The clinical picture included an excruciating burning sensation in her throat and nostrils followed by vomiting and poor oral intake. The presence of a whitish membrane on the oral and buccal mucosa without bleeding or erosions was the only remarkable finding at physical examination. Unlike the rest of the cases described in the literature the clinical and endoscopic follow up of the patient was benign and without sequela or signs of oesophageal damage. Even though very uncommon, it is very important for physicians to keep in mind the possible toxic effects and appropriate management of silver nitrate ingestion. The outcome is not always devastating as reported, and a good early approach and follow up is important in the anticipation of sequela.

Probiotics in the treatment of acute rotavirus diarrhoea. A randomized, double-blind, controlled trial using two different probiotic preparations in Bolivian children.

BACKGROUND: Evidence suggests that probiotics reduce rotavirus diarrhoea duration. Although there are several probiotic strains potentially useful, daily practice is often limited by the type and number of products locally available. In general, information about combined products is scarce. In this study we compare the effect of two probiotic products in the treatment of diarrhoea in children less than 2 years of age. METHODS: A Randomized double-blind controlled clinical trial in children hospitalized for acute rotavirus diarrhoea, in the Paediatric Centre Albina Patino, Cochabamba, Bolivia.Participants were children aged 1 - 23 months, who were randomly assigned to receive one of three treatments: Oral rehydration therapy plus placebo; Oral rehydration solution plus Saccharomyces boulardii; or Oral rehydration solution plus a compound containing Lactobacillus acidophilus, Lactobacillus rhamnosus, Bifidobacterium longum and Saccharomyces boulardii. Sample size was 20 per group and the outcomes were duration of diarrhoea, of fever, of vomiting and of hospitalization. RESULTS: 64 cases finished the protocol. On admission, patients' characteristics were similar. Median duration of diarrhoea (p = 0.04) in children who received the single species product (58 hours) was shorter than in controls (84.5 hrs). Comparing children that received the single probiotic product and controls showed shorter duration of fever (18 vs 67 hrs) (p = 0.0042) and the mixed probiotic of vomiting (0 vs 42.5 hrs) (p = 0.041). There was no effect on duration of hospitalization (p = 0.31). When experimental groups were merged, statistical significance of changes increased (total duration of diarrhoea, fever and vomiting P = 0.025, P = 0.025 and P = 0.014, respectively). CONCLUSIONS: Both products decreased the duration of diarrhoea compared to oral rehydration solution alone. This decrease was significant only for the single species product which also decreased the duration of fever. With the multiple species product there was no vomiting subsequent to the initiation of treatment. The quantity of probiotic bacteria needed for optimum treatment of gastroenteritis remains to be determined, particularly when multiple species are included in the product.Trial registration: ClinicalTrials.gov ID: NCT00981877Link: https://register.clinicaltrials.gov/prs/app/action/SelectProtocol/sid/S0002653/selectaction/View/ts/2/uid/U0000N04 TRIAL REGISTRATION: Clinical trials NCT ID: NCT00981877.

A severe case of erythrodermic psoriasis associated with advanced nail and joint manifestations: a case report.

INTRODUCTION: Erythrodermic psoriasis is a rare generalized clinical presentation of psoriasis in children and adults. Its systemic involvement and a diverse range of clinical findings in the joint and nails are commonly described. A high index of suspicion and an exhaustive differential diagnosis involving other causes of erythroderma should be initially considered. CASE PRESENTATION: We present the case of a 9-year-old native Hispanic girl with severe erythrodermic psoriasis associated with uncommon advanced nail and joint manifestations. Our patient showed an excellent response to methotrexate medication. CONCLUSION: This case shows clinical features not commonly described or reported in severe cases of erythrodermic psoriasis, including severe and rare nail and arthritic findings in a pediatric scenario.

Nitazoxanide vs. probiotics for the treatment of acute rotavirus diarrhea in children: a randomized, single-blind, controlled trial in Bolivian children.

BACKGROUND: In previous studies, nitazoxanide has demonstrated a cytoprotective effect against rotavirus, reducing the duration of diarrhea in comparison to placebo. We designed a randomized, single-blind, controlled trial in order to assess the effectiveness of nitazoxanide and probiotics in comparison with a control group. METHODS: Seventy-five children aged from 28 days to 24 months, with rotavirus diarrhea, were randomly assigned to receive either oral nitazoxanide (15 mg/kg/day) twice a day for three days, a combination of oral probiotics, 1 g twice a day for five days, or only oral or systemic rehydration solutions. The duration of diarrhea and of hospitalization were the primary outcome measures, and daily stool frequency, vomiting, and fever were some of the secondary outcome measures analyzed. RESULTS: The median duration of hospitalization was significantly shorter (p = 0.017) in patients who received nitazoxanide (81 h) and probiotics (72 h) compared to patients who received oral rehydration solution alone (108 h). Similarly, the median duration of diarrhea was significantly reduced (p = 0.009) in children who received nitazoxanide (54 h) and probiotics (48 h) compared to the control group (79 h). CONCLUSIONS: Treatment with nitazoxanide and probiotics is effective in the management of children with acute rotavirus diarrhea. Small differences in favor of nitazoxanide were found in comparison with probiotics. Nitazoxanide is an important treatment option for rotavirus diarrhea.