Postinfectious cerebellitis in children case report

Introduction: acute post-infectious cerebellitis is an infrequent pathology and its diagnosis is difficult since the clinical presentation and its course are very variable. Its causes are associated with previous viral infections, recent vaccination, or ingestion of contaminated food. Objective: to determine the management and therapeutics of post-infectious cerebellitis in a clinical case to establish novel and instructive elements of the disease. Methodology: Analysis of a retrospective descriptive clinical case, for the collection of information a review of clinical history was performed; for the description of the disease a compilation of information in recognized databases such as: Scopus, Pubmed, web of Science, Lilacs was performed. Results: we present a clinical case of a male patient aged 2 years 11 months, dysmetric, dyschronometric, with horizontal nystagmus, tremor, ataxic, hypotonic, babinsky star gait and postural instability. With IGG for COVID19 of 265.8 (positive) diagnosed with cerebellitis that through the respective antimicrobial treatment, presents a clear clinical improvement. Conclusion: The diagnosis of post infectious cerebellitis can become difficult as it is an infrequent pathology, an imaging examination confirms the clinical diagnosis of acute cerebellitis. however, in an urgent context, MRI may not be performed, especially in cases of clinical instability of the patient however the role of cranioencephalic imaging in the follow-up of these patients is related to the detection of complications.

Ipolita Cesibel Marin Zaruma, Rosa Veronica Sumba Portilla, Rodrigo Jose Mendoza Rivas

6-28

Dravet syndrome: clinical case

Introduction: Dravet syndrome is a rare and severe genetic condition, which manifests with epileptic seizures from infancy. Patients may experience developmental, cognitive, motor, behavioral, sleep disorders and other problems. This syndrome usually develops due to genetic alterations in the SCN1A gene. There is currently no curative treatment, so management focuses on controlling seizures and promoting the patient's well-being. Antiepileptic drugs, ketogenic regimen and surgery are options that can be used to treat Dravet syndrome. Objective: To determine the management and therapeutics of genetic Dravet syndrome in a case history, with the purpose of identifying and highlighting innovative and practical components of the disease. Methodology: The procedure consisted of a detailed review of the patient's clinical history, as well as the pathology, using various recognized databases. These databases included publications from the last five years in Spanish and English. The ethical-legal processes were respected, including the patient's signature of consent or assent. Results: We report the case of a 44-month-old girl who experienced recurrent seizures during febrile episodes. Her motor and language development were atypical, with onset of walking at 2 years and 2 months and limited verbal ability. Suspicion of epilepsy, particularly of the Dravet type, was based on high recurrence of seizures, lack of improvement with current treatment, and physical examination findings. A skull CT scan and genetic study were performed to confirm the diagnosis. Topiramate was introduced in the treatment to improve seizure control. Conclusion: The case illustrates the characteristics of Dravet syndrome and the importance of an accurate diagnosis for proper management.

Ana Gabriela Romero Loja, María Fernanda Peralta Cárdenas, Rodrigo José Mendoza Rivas

29-51

Chronic inflammatory demyelinating polyneuropathy: clinical case

Introduction. Chronic inflammatory demyelinating polyneuropathy is a rare autoimmune disorder affecting the peripheral nervous system, diagnosis, variability in evolution and response to treatment are key challenges. In addition, the high cost of treatment, together with the impact on quality of life, underline the importance of investigating this condition.  Objective: to analyze the management of the pathology, including its description, care plan and treatment, by means of a clinical case study. Methodology: clinical case with bibliographic review, descriptive, retrospective type, aspects such as definition, physiopathology, risk factors, diagnosis, prognosis, signs and symptoms are approached. The systematization of the case includes reason for consultation, current disease, history, medications, physical examination, laboratories and outcome. The discussion highlights holistic influences on the outcome, comparing data with other investigations to enrich the article. Results: We present the case of a 41-year-old man with multiple pre-existing medical conditions, including hypothyroidism, arterial hypertension, deep vein thrombosis and pulmonary thromboembolism. He is admitted to the emergency department with symptoms compatible with acute coronary syndrome, but significant cardiac signs are ruled out on workup. Given her history of previous disorders and an inflammatory polyneuropathy, a systemic multi-inflammatory syndrome related to a possible hypercoagulability syndrome is suspected. Treatment is initiated and a thorough clinical evaluation is performed, highlighting the presence of spinal canal stenosis and evidence of chronic inflammatory demyelinating polyneuropathy (CIDP) in complementary studies. Conclusions: Chronic Inflammatory Demyelinating Inflammatory Demyelinating Polyneuropathy (CIDP) is a challenge in autoimmune disorders of the peripheral nervous system, evidencing complexities in diagnosis, evolution and treatment. A clinical case study underscores the importance of a comprehensive approach that includes medications, vital management, physical therapy, and neurological follow-up. The research highlights the need for further studies and specialized care to effectively address CIDP.

Maira Alexandra Quisnia Amaguaya, Prissila Banesa Calderón Guaraca, Rodrigo Jose Mendoza Rivas

52-72

Tuberous sclerosis of infancy: case report

Introduction: tuberous sclerosis complex (TSC) is a multisystem autosomal produced by mutatitos in the tumor suppressor genes TSC1 or TSC2. Objective: To analyze the clinical case of a pediatric patient with tuberous sclerosis, to present new or instructive aspects of the disease. Methodology: Analysis of a retrospective descriptive clinical case, for the collection of information a review of clinical history was performed; for the description of the disease a complication of information in recognized databases such as: Scopus, Pubmed, web of Science, Lilacs was performed. Results. The clinical case presented is a 5-year-old pediatric patient with a diagnosis of tuberous sclerosis due to the presence of subependymal hamartomas and lateral cortical tubers. With decreased psychomotor activity, skin with presence of abnormal changes all over the body, right lower limb with deformity. Vigilant, oriented in time, space and person, language with speech delay, slightly decreased muscle strength, dysmetric patient, dyschronometric. Conclusion: Tuberous sclerosis is a neurocutaneous disease, characterized by the appearance of a clinical triad (Vogt's triad): mental retardation, seizures and skin lesions (sebaceous adenoma). It presents typical intracranial findings that allow to guide its diagnosis.

Anahi Yajaira Molina Olmos, Rosa Veronica Sumba Portilla, Rodrigo José Mendoza Rivas

73-91

Alzheimer's disease: case report

Introduction: Alzheimer's disease is a progressive neurodegenerative disorder with characteristic neuropathological changes, it is the most common form of dementia.As a definitive diagnosis requires neuropathological examination, clinical criteria have been established for the diagnosis of probable Alzheimer's disease, its prevalence will increase considerably in the coming years, at the rate of increase in the proportion of older people, measures to mitigate risk in middle age can potentially prevent or postpone up to 40 % of dementia cases. Objective: To determine the management and therapeutics of Alzheimer's disease in a clinical case to establish novel and instructive elements of the disease. Methodology: descriptive, retrospective clinical case study. The technique used for the collection of the information of the case will be through the review of clinical history and for the description of the pathology will be through the compilation of articles extracted from recognized databases such as: Scopus, PorQuest, Pubmed, web of science, lilacs. Inclusion criteria: articles published in the last 5 years, in Spanish and English. The legal ethical process is fulfilled with the patient's consent signatura. Results: 40-year-old female patient, presenting significant neuropsychological symptoms, classified by extension tests as moderate Alzheimer's disease, with MOCCA 6/30, multidisciplinary and pharmacological treatment was implemented with rivastigmine, sertraline and memantine, with subsequent improvement of MOCCA 11/30, and then to 17/30, showing a favorable clinical evolution. Conclusion: an accurate diagnosis, by means of an adequate clinical history, where the risk factors are collected, is vital to approach the diagnosis, after which the patient should be placed in his level of severity by means of complementary studies, finally, if the patient receives a multidisciplinary approach, he will have a favorable clinical evolution, improving the quality of life of the patient and his family.

Rosa Beatriz Morocho Saquinaula, Rosa Veronica Sumba Portilla, Rodrigo José Mendoza Rivas

92-128

Study of factors associated with male infertility, its relationship with DNA fragmentation and alterations in the spermogram of patients who attended in a fertility clinic

Infertility is a global health problem and is defined as the failure to achieve a pregnancy after 12 months or more of regular unprotected sexual intercourse. Objective: To identify and relate factors associated to male infertility with sperm DNA integrity and seminal parameters of patients who were treated at a fertility clinic. Methodology: This is a descriptive non- experimental study, and it comprised 269 patients treated at Biogepa Human Reproduction Center in the city of Cuenca from January 2017 to December 2021. Different parameters seminals y sperm DNA integrity was analyzed using the sperm chromatin dispersion (SCD) assay. Results: Occupations like storekeeper and office worker were the most relevant in the participants in the study. In turn, it was revealed that the subjects who reported not consuming any type of addictive or recreational substance were related to 15 types of alterations in the spermiogram: one with mono alteration, seven with di alterations, four with tri alterations, one with tetra alterations and two with penta alterations. In addition, it was determined that the patients, showed 3 mono alterations (Azoo, Hypo, and Terato), one di alteration (Astheno-Terato), one tri alteration (Hypo-Astheno-Terato), and a penta alteration (Hypo-Oligo-Astheno- Necro-Terato). Finally, the various levels of sperm DNA fragmentation were related to the different age groups and the diagnoses. It was observed that the di alteration (Astheno-Terato) is present in all age groups, reporting good and intermediate levels of DNA fragmentation. Conclusion: Seminal quality could be associated to varied factors of the individual environment, which could have an impact on male infertility. In turn, sperm DNA fragmentation is closely related to the alterations observed in the spermiogram.

Lorena Siavichay Gómez, Pedro Rosendo Chalma, Adriana Nohemí González Cabrera

152-172