Published: 2023-09-09

Arthrogryposis Multiplex Congenita in twin

Authors:
Hilda García Coronado
Abstract:
Arthrogryposis is the general name given to a group of unusual conditions that cause joint stiffness, limited movement, and less than normal muscle development. It is classified into two groups; Amyoplasia: symmetrical contracture, in upper and/or lower limbs, affecting large joints (40% of cases) and Distal Arthrogryposis: only in the hands and feet, sparing large joints. The prevalence varies from 1/3,000 live births. The diagnosis is clinical and is characterized by the number of affected joints, as well as their degree of severity. The treatment combines orthopedics and physical rehabilitation.

Giant infantile hemangioma with thrombocytopenia: case report

Authors:
Yeimi Putul, Sarvia Reyes
Abstract:
Hemangiomas are common benign tumors in the pediatric population, they are the result of abnormal proliferation of blood vessels. The association between giant hemangioma and thrombocytopenia was described by Haig Kasabach and Hatharine Merritt in 1940. Kasabach Merrit syndrome is a rare and aggressive vascular tumor. We present the case of a 1-year-old patient with a giant hemangioma and thrombocytopenia.

Preputial Cyst: case report

Authors:
Allan Cano Gutiérrez
Abstract:
Preputial cysts represent an uncommon pathology, are benign and can be treated conservatively or surgically, depending on the size of the lesion. They are usually identified at birth or adolescence and are incidental findings. We present the case of a 3-day-old patient with the diagnosis of congenital syphilis. On physical examination, a preputial cyst of +/- 2mm in diameter was identified. The Department of Surgery suggested conservative treatment and outpatient management.

Congenital malformation of the pulmonary airways. Case reporte

Authors:
Andrea Celeste Arriola Duarte
Abstract:
Pulmonary malformations comprise various anomalies of the respiratory system, including congenital malformation of the pulmonary airway (CVMAP), formerly known as cystic adenomatous malformation, a rare abnormality in the development of the terminal airways. Diagnosis can be made from the prenatal period by gestational ultrasound, sometimes finding serious fetal repercussions such as hydrops fetalis. The clinical presentation is variable, from asymptomatic to severe pulmonary complications. It usually presents with respiratory distress in the newborn. We present the case of a female newborn with prenatal diagnosis. Physical examination, chest radiographs, and pulmonary tomography support the diagnosis. Histopathological study confirms the diagnosis.

Postural orthostatic tachycardia síndrome and inappropriate sinus tachycardia.

Authors:
José Gómez
Abstract:
ABSTRACT: Postural orthostatic tachycardia syndrome (POTS) is characterized by an increase in heart rate greater than 30 bpm when standing during the first 10 minutes and the absence of orthostatic hypotension (1). The prevalence of POTS is 0.2% and it mainly affects young women (2). There is a relationship with another syndrome that produces tachycardia, inappropriate sinus tachycardia, with which it shares clinical characteristics (3). The diagnosis of POTS can be made with the tilt test (TILT), biomarkers and hemodynamic parameters. The purpose of treatment is to reduce symptoms since there is no cure (4).

Hutch's diverticulum, case report

Authors:
Allan Cano Gutiérrez
Abstract:
We present the case of a 3-day-old patient who is referred by staff of a Health Center with a family history of an HIV-positive mother. He was admitted for complementary evaluation and confirmatory DNA testing. The patient was hospitalized for complementary studies. On physical examination, patient in poor hygienic conditions and with renal failure and hypospadias. A renal and urinary tract ultrasound and Urethrocystogram was performed and showed polycystic kidneys and Hutch's diverticulum. Treatment with prophylactic cefadroxil and referral to Pediatric Nephrology was initiated.

Retroperitoneal lipoblastoma. Case report

Authors:
LIZZETTE BARBOSA
Abstract:
Lipoblastoma is a benign neoplasm of adipose tissue, rare and almost exclusive of children. It usually occurs in the extremities. The definitive diagnosis is stablished through histological and cytogenetic analysis. A clinical case of lipoblastoma of infrequent location, in an 8-year-old boy, with an increase in abdominal volume of 4 months of evolution is presented. The diagnosis was confirmed by histological and cytogenetic analysis.

Naso-ethmoidal encephalocele: case report

Authors:
Jessica Herrera, Julio Cabrera, Irwing Rivera
Abstract:
Encephalocele is a congenital malformation characterized by herniation of the brain and/or meninges through a skull defect, and it is covered by skin. It is one of the three most common neural tube defects. It is usually associated with folic acid deficiency. We present the case of a newborn, product of a mother from a rural area, diagnosed as pregnant at week 14 of gestational age, who was not given prenatal care, with four obstetric ultrasounds reported as normal. Patient who is born as a result of vaginal delivery without complications, however, the physical examination showed craniofacial malformation and was referred to our hospital. Neurosurgery and plastic surgery perform correction of the defect. Currently patient with adequate evolution.

Holoprosencephaly in a 43-day-old infant

Authors:
Allan Cano Gutiérrez
Abstract:
Holoprosencephaly (HPE) is a congenital malformation of the brain resulting from the failure of the forebrain to divide into two cerebral hemispheres. We present the case of a 43-day-old patient with a history of cleft lip and palate who consulted with a history of apnea episodes and tonic-clonic seizures. She was managed in the pediatric emergency, treating her for convulsive syndrome and pneumonia. She is admitted to the Pediatric Intensive Care Unit for management. Cerebral TAC showed the anomaly.

Goldenhar Syndrome. Case report

Authors:
Victor Alfredo Portillo Mirannda
Abstract:
Goldenhar syndrome is the second most common craniofacial malformation; it ca be sporadic presentation or as autosomal-dominant inheritance, it involves the organs derived from the first and second branchial arches. Its main characteristics are ocular, auricular (ear and pinna) and vertebral affections. We present the case of a newborn product of a 40-year-old mother with a history of Gestational Diabetes and Uterine Fibromatosis, with preterm labor.

Neuroimaging in amyotrophic lateral sclerosis: brain magnetic resonance image findings. Case report

Authors:
Eduardo Monzón, Abel Alejandro Sanabria Sanchinel, Edwin Escobar
Abstract:
Amyotrophic lateral sclerosis is a rapidly progressive neurodegenerative disease, the diagnosis is based on clinical and electromyographic findings and the exclusion of the differential diagnoses. The quantification of hyperintensity in Fluid Attenuated Inversion Recovery ( FLAIR) of the corticospinal tract can provide a benefit for the diagnosis and classification by subgroups according to phenotype.

Videolaparoscopic nephrectomy in a 69 years old patient with renal cell carcinoma

Authors:
PAULA RIVAS CASTAÑEDA, Gustavo González Reynoso
Abstract:
Renal cell carcinoma represents 2-3% of all adult neoplasms and it is the most frequent and lethal of all urological neoplasms. The treatment of choice in patients with localized disease is radical nephrectomy. Next, we present the case of a 69 years old female incidentally diagnosed with clear cell renal carcinoma and then subdued to videolaparoscopic surgery.

Atypical presentation of histoplasmosis as secondary immune thrombocytopenia: case report

Authors:
Luis Escobedo
Abstract:
The development of immune thrombocytopenia has been characterized as an acquired disorder, the most frequent presentation of which is isolated thrombocytopenia. When the cause is determined, it is established as secondary and a favorable response can be obtained by treating the underlying cause. The case of a 29-year-old patient is presented, who, despite having received adequate treatment for immune thrombocytopenia, did not obtain a response, until the diagnosis of atypical presentation histoplasmosis was established.

Giant lung cyst in an infant, management and nonsurgical reso-lution at two years of follow-up

Authors:
ALEJANDRO BARRON BALDERAS
Abstract:
We present the case of a 5-month-old infant with acute respiratory distress of one week of evolution, however, with recurrent events of this nature since birth. Plain chest X-ray and CT scan showed a giant bronchogenic cyst with thin walls and air inside in the right hemithorax. Managed with inhaled beclomethasone for 6 months, with surveillance until 3 years of age, when it showed total resolution.

Development of Acquired Hemophilia in Essential Thrombocytosis in a female patient with acute abdomen

Authors:
Dulce Guissel Vélez Palencia
Abstract:
Essential thrombocytosis is a myeloproliferative neoplasm that causes a high production of platelets and when this is excessive, it can trigger bleeding episodes as a consequence of development of acquired hemophilia, altering coagulation factors and factor VIII levels. We report the case of a 42-year-old female patient who presented with symptoms of acute abdomen with a history of essential thrombocytosis, laboratory tests showing platelets 1,195 miles7ul, clotting times: PT 40.10 TPT 53.20 INR 3.83.

Multidisciplinary approach in the management of brain metastases from lung adenocarcinoma.

Authors:
Hugo Castro
Abstract:
Brain metastases in lung adenocarcinoma are common and often present as complications in patients with advanced cancer. It worsen prognosis and reduce survival.  Clinically, they vary from asymptomatic to intracranial hypertension syndrome. Multidisciplinary approach is crucial in determining the best treatment. Diagnostic methods such as computed tomography and magnetic resonance imaging are useful in detecting brain metastases and determining the amount and location of the lesions. Surgical treatment of brain metastases combined with radiotherapy is considered the most effective approach to reduce lesion size and improve neurological symptoms. Radiotherapy is a treatment option for patients who are not candidates for surgery or for those with multiple brain lesions. Targeted therapy, such as inhibition of epidermal growth factor receptor (EGFR) kinase, has significantly improved survival in patients with metastatic lung adenocarcinoma. Immune checkpoint inhibitor therapy has also been shown to be effective in patients with advanced lung adenocarcinoma and brain metastases. In conclusion, brain metastases in lung adenocarcinoma are a common complication in patients with advanced cancer and significantly affect quality of life and prognosis. Multidisciplinary approach is crucial in evaluating the disease stage and determining the best treatment, which may include surgery, radiotherapy, targeted therapy, and immunotherapy.

Intestinal ulcers and perforations associated with COVID-19

Authors:
Karen Perez
Abstract:
SARS-CoV-2 infection mainly affects the respiratory system, but other organs have been frequently described, including the gastrointestinal system. A case of a 35-year-old female patient with a positive HIV history is presented, who was admitted to the emergency room due to an acute abdomen. Right hemicolectomy is performed, evidencing multiple perforations. The pathological study shows ulcerations, ranging from 2.5 x 1.5 to 1 x 1 cm, with irregular edges and the immunohistochemical study was positive for SARS-Cov2. Patient died 3 days after the procedure.

Characterization of changes by regression in pilocytic astrocytoma

Authors:
Gabriela Aqueche , Astrid Carolina Rodríguez Monzón, Kimberly Morales , Marisol Gramajo
Abstract:
Background. Pilocytic astrocytoma is the most common Central Nervous System (CNS) tumor in the pediatric population, belonging to WHO grade 1. It has an excellent prognosis with complete resection. Growth arrest and tumor regression have also been documented, affecting the patient's prognosis and survival. Objetive. To determine the prevalence and the characteristics of pilocytic astrocytomas with regressive changes at the Hospital General de Enfermedades del Instituto Guatemalteco de Seguridad Social, as well as the survival of patients. Material and methods . The present study was conducted at the Guatemalan Institute of Social Security, from April 2013 to June 2022. From the database composed of 221 cases of neuroepithelial tumors, pilocytic astrocytomas were identified, and of these, those that showed regression changes. Results. Five cases of pilocytic astrocytoma were identified and characterized. Conclusion. The regression change represented a prevalence of 35.7% of all pilocytic astrocytomas studied.  

Characterizations of cases with pilocytic astrocytoma at the Instituto Guatemalteco de Seguridad Social

Authors:
Gabriela Aqueche , Kimberly Morales , Astrid Carolina Rodríguez Monzón, Marisol Gramajo
Abstract:
Pilocytic astrocytoma is one of the most common pediatric tumors of the Central Nervous System (CNS). Its optimal management is complete resection. It has an excellent long-term survival and its recurrence ranges from 0% to 29%. In the present study, 221 cases of neuroepithelial tumors were identified, diagnosed at the General Hospital Enfermedades  of the Instituto Guatemalteco de Seguridad Social (IGSS) , from April 2013 to June 2022, of which 14 were pilocytic astrocytomas. The objective of the study was to determine the característics of this tumor at our institution.

Characterization of meningiomas at the Instituto Guatemalteco de Seguridad Social, Guatemala City

Authors:
Eugene Velásquez
Abstract:
Background. Meningiomas are a group of neoplasms derived from meningothelial cells. In Guatemala, the frequency of the different grades and subtypes of this neoplasm is not known. Objective. To determine the frequency of the different degrees and subtypes of meningioma in the Guatemalan Social Security Institute (IGSS), Guatemala. Material and methods. From April 2013 to July 2022, neoplasms of the central nervous system (CNS) were identified in the IGSS and of them, meningiomas were characterized. Results. 683 cases of CNS neoplasms were collected, of which 127 were meningiomas, which were subject to characterization. Conclusion. Of the CNS tumors, 19% were meningiomas.