Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency.

PURPOSE: We aimed to describe the clinical, immunological, and genetic features of patients with DOCK8 deficiency (DOCK8-Def) in a tertiary care center for children. METHODS: Retrospective chart review of patients' clinical, immunological, and genetic characteristics with DOCK8-Def. Genetic analysis was performed with targeted- or whole-exome sequencing; we also assessed DOCK8 protein expression and a lymphoproliferation assay and analyzed survival by the Kaplan-Meier method. RESULTS: We described 11 patients from 8 unrelated kindreds. The median age at symptoms' onset was 10 months (range 1-54 months). The median follow-up time was 53.4 months (4.8-118.8). All patients presented eczema and recurrent sinopulmonary and cutaneous infections. Besides those symptoms, the most frequent manifestations were bronchiectases (8/11), food allergies (6/11), and severe infections (6/11). Infrequent characteristics were detection of CMV in bronchial lavage, C. parvum-driven sclerosing cholangitis, Takayasu vasculitis, neurological syndromes, pulmonary tuberculosis, and lymphomatoid granulomatosis. CONCLUSION: DOCK8-Def has a broad spectrum of manifestations, including allergy, autoimmunity, inflammation, infection, and cancer. The hallmark of this inborn error of immunity is IEI-associated eczema with eosinophilia and increased IgE. Here, we report six new mutations causing human DOCK8 deficiency and symptoms previously unrecognized to occur in DOCK8-Def. Therefore, an early diagnosis of DOCK8-Def is essential to facilitate an adequate treatment such as HSCT.

Tuberculosis of the ribcage by dissemination of Koch bacilli.

INTRODUCTION: Tuberculosis (TB) is an infectious, transmissible and immune disease caused by the Mycobacterium tuberculosis-complex (MTBC). Although osteoarticular tuberculosis (OATB) has been widely described, the ribcage variety remains a rare form. CASE REPORT: A thirteen-month-old male and a twenty-month-old female, both with pain and increased volume of anterolateral left rib cage were described. Physical examination revealed the presence of a soft consistent mass at the level of the 9th and 5th costal arches in the male and female patients respectively. Upon clinical evaluation, tuberculosis was suspected, which was confirmed by X-ray and histopathological studies. After confirmation, the management, based on anti-tuberculosis therapy was started as follows: nine months of anti-tuberculosis therapy for the male patient and fourteen months for the female. The outcomes were favorable for both patients. However, further interventions, consisting of abscess drainage in the male patient and excisional biopsy in the female patient were necessary. With these therapeutic interventions, to date, the patients are without any evidence of active TB.

Estenosis congénita de venas pulmonares y malformación vascular broncopulmonar / Congenital pulmonary vein stenosis and bronchopulmonary vascular malformation

Resumen El objetivo es mostrar el diagnóstico y la evolución de una paciente con estenosis de venas pulmonares y secuestro pulmonar. Se trata de una niña de 1 año de edad, con bronconeumonías de repetición, acrocianosis, 2R intenso, cardiomegalia, hipertensión venocapilar pulmonar, con diagnóstico clínico de comunicación interauricular. El ecocardiograma mostró estenosis de venas pulmonares izquierdas. El cateterismo cardiaco detectó fístulas arteriovenosas en la región apical del pulmón derecho. La imagen de resonancia magnética y la angiografía mostraron un vaso arterial aberrante paralelo a la aorta abdominal y con flujo dirigido al lóbulo pulmonar derecho. La angiotomografía reportó confluencia de las venas pulmonares del lado derecho. Se realizó lobectomía derecha. La paciente falleció en el posoperatorio debido a una hemorragia masiva pulmonar. Esta paciente es la primera descrita en la literatura con estenosis de venas pulmonares congénita asociada a secuestro pulmonar. La ecocardiografía es el estudio diagnóstico ideal inicial en los pacientes con estenosis congénita de venas pulmonares.

Abstract The objective is demonstrate the diagnostic process and evolution of a patient with a diagnosis of congenital pulmonary vein stenosis and broncho-pulmonary vascular malformation. One year old female patient with repeated bronchopneumonia, acrocyanosis, split S2, cardiomegaly, pulmonary hypertension, with a clinical diagnosis of atrial septal defect. The echocardiogram demonstrated left sided vein pulmonary stenosis. The cardiac catheterization demonstrated arterial-venous fistulas apical on the right lung. Magnetic Resonance image and angiography showed an aberrant arterial vessel parallel to the abdominal aorta which flow the right pulmonary lobe. The cardiac tomography angiography reported confluence of right-sided pulmonary veins. A lobectomy is performed. Patient died in post-operative due to massive pulmonary hemorrhaging. This is the first patient mentioned in written literature with pulmonary vein stenosis associated with pulmonary sequestration, with normal venous connection. Echocardiography represents the specific standard study ideal for initial diagnostic for patients with pulmonary vein stenosis.

Congenital pulmonary vein stenosis and bronchopulmonary vascular malformation / Estenosis congénita de venas pulmonares y malformación vascular broncopulmonar

The objective is demonstrate the diagnostic process and evolution of a patient with a diagnosis of congenital pulmonary vein stenosis and broncho-pulmonary vascular malformation. One year old female patient with repeated bronchopneumonia, acrocyanosis, split S2, cardiomegaly, pulmonary hypertension, with a clinical diagnosis of atrial septal defect. The echocardiogram demonstrated left sided vein pulmonary stenosis. The cardiac catheterization demonstrated arterial-venous fistulas apical on the right lung. Magnetic Resonance image and angiography showed an aberrant arterial vessel parallel to the abdominal aorta which flow the right pulmonary lobe. The cardiac tomography angiography reported confluence of right-sided pulmonary veins. A lobectomy is performed. Patient died in post-operative due to massive pulmonary hemorrhaging. This is the first patient mentioned in written literature with pulmonary vein stenosis associated with pulmonary sequestration, with normal venous connection. Echocardiography represents the specific standard study ideal for initial diagnostic for patients with pulmonary vein stenosis.

El objetivo es mostrar el diagnóstico y la evolución de una paciente con estenosis de venas pulmonares y secuestro pulmonar. Se trata de una niña de 1 año de edad, con bronconeumonías de repetición, acrocianosis, 2R intenso, cardiomegalia, hipertensión venocapilar pulmonar, con diagnóstico clínico de comunicación interauricular. El ecocardiograma mostró estenosis de venas pulmonares izquierdas. El cateterismo cardiaco detectó fístulas arteriovenosas en la región apical del pulmón derecho. La imagen de resonancia magnética y la angiografía mostraron un vaso arterial aberrante paralelo a la aorta abdominal y con flujo dirigido al lóbulo pulmonar derecho. La angiotomografía reportó confluencia de las venas pulmonares del lado derecho. Se realizó lobectomía derecha. La paciente falleció en el posoperatorio debido a una hemorragia masiva pulmonar. Esta paciente es la primera descrita en la literatura con estenosis de venas pulmonares congénita asociada a secuestro pulmonar. La ecocardiografía es el estudio diagnóstico ideal inicial en los pacientes con estenosis congénita de venas pulmonares.

Case Report: Chest Wall Tuberculosis without Pulmonary Involvement in Three Pediatric Immunocompetent Patients.

Primary rib cage tuberculosis (TB) is an infrequent form of presentation and represents 1% of all cases of osteoarticular TB. We report three cases of children who were previously healthy and who began with swelling of the anterior surface of the rib as initial manifestation of TB. The most important clinical presentations in this series were swelling and pain, with lytic lesions and a soft tissue mass in image studies simulating oncologic pathologies. Because none of the cases had positive epidemiological contact, TB was initially not considered, so the delay in diagnosis from the onset of symptoms was 4, 1, and 2 months, respectively. The diagnosis was made through histomorphological analyses. Treatment was administered during 12, 10, and 9 months. Posttreatment studies did not show any evidence of extrapulmonary TB and until date, the patients remained without relapse or active disease. The findings in our cases illustrate that the diagnosis of chest wall TB should be suspected in all patients from endemic areas who present rib injury.

[Imaging diagnosis of infantile hypertrophic pyloric stenosis: report of a case and review of the literature]. / Diagnóstico por imagen en la estenosis hipertrófica del píloro en la infancia: reporte de un caso y revisión de la literatura.

Infantile hypertrophic pyloric stenosis (IHPS) is familiar to most pediatric and general practitioners, it is a pathology where the radiologist nowadays has a key role confirming the clinical suspicion based in ultrasound and upper-gastrointestinal barium examinations. There is hypertrophy and hyperplasia of the antropyloric portion of the stomach, which becomes abnormally thickened, it manifests as obstruction to gastric emptying. Infants with IHPS are clinically normal at birth, but they develop a nonbilious forceful vomiting during the first weeks of postnatal life, which is described as "projectile". Surgical treatment is curative. The clinical diagnosis hinges on palpation of the thickened pylorus. Imaging findings include the "string sign" (elongation of the pyloric canal) and the "double-track sign" (presence of linear tracts of contrast material separated by the intervening mucosa) on fluoroscopic observation. Sonographic examination demonstrates the thickened prepyloric antrum bridging the duodenal bulb and distended stomach. We present the case of a 26-days-old infant with IHPS; presenting this case we make a brief review of the clinical features and main imaging findings of IHPS.

[Imaging diagnosis of acute septic arthritis of hip]. / Diagnóstico por imagen de la artritis séptica aguda de la cadera.

Acute septic arthritis is a common diagnosis usually seen by radiologists, internists, and family physicians; it is most commonly caused by pyogenic pathogens. In the majority of patients, it is possible to identify, the infection mechanism: spread of infection can be due to hematogenous dissemination, a contiguous source of infection, direct inoculation, or surgical contamination. Radiologic findings include increase in articular space and central and marginal bone erosions; the first plain radiograph changes are seen 8-10 days after symptoms. We present the case of a 9-year-old girl with septic arthritis of right hip; in presenting this case we offer a brief summary of clinical features and main imaging findings of septic arthritis (plain radiographs, ultrasonography, and gammagraphy).

Diagnóstico por imagen de la artritis séptica aguda de la cadera / Imaging Diagnosis of Acute Septic Arthritis of Hip

La artritis séptica de la cadera, es una alteración relativamente común, que se presenta en cualquier gabinete de Radiología, en la consulta del internista o del médico general y familiar; es la infección de una articulación que suele deberse a gérmenes piógenos. En la mayoría de los pacientes puede identificarse el mecanismo de contaminación: la infección puede deberse a diseminación hematógena, a extensión desde una fuente contigua, a inoculación directa o a contaminación quirúrgica. Los hallazgos radiológicos incluyen aumento del espacio articular y erosiones óseas, centrales y marginales; las primeras alteraciones óseas aparecen 8 a 10 días después del comienzo de los síntomas. Presentamos el caso de una niña de 9 años de edad con artritis séptica de la cadera derecha, y una breve revisión de las características clínicas y los hallazgos por imagen en esta patología.

Acute septic arthritis is a common diagnosis usually seen by radiologists, internists, and family physicians; it is most commonly caused by pyogenic pathogens. In the majority of patients, it is possible to identify the infection mechanism: spread of infection can be due to hematogenous dissemination, a contiguous source of infection, direct inoculation, or surgical contamination. Radiologic findings include increase in articular space and central and marginal bone erosions; the first plain radiograph changes are seen 8-10 days after symptoms. We present the case of a 9-year-old girl with septic arthritis of right hip; in presenting this case we offer a brief summary of clinical features and main imaging findings of septic arthritis (plain radiographs, ultrasonography, and gammagraphy).