Mielopatía por déficit de cobre: serie de casos y revisión de la literatura / Myelopathy due to copper deficiency: A case series and review of the literature

El déficit de cobre puede presentarse como una mielopatía y manifestarse como una ataxia sensorial secundaria a una desmielinización de los cordones posteriores de la médula espinal. Puede acompañarse de citopenias, principalmente anemia y leucopenia. Se presenta una serie de casos de tres pacientes con mielopatía por déficit de cobre, diagnosticados y manejados desde el año 2020 al 2022 en un hospital universitario de alta complejidad en Colombia. Dos de los casos eran mujeres. El rango de edad fue entre 57 y 68 años. En los tres casos, los niveles séricos de cobre estaban disminuidos y en dos de ellos, se descartaron diferentes causas de mielopatía que afectan los cordones posteriores de la médula espinal como el déficit de vitamina B12, vitamina E y ácido fólico, tabes dorsal, mielopatía por virus de la inmunodeficiencia humana, esclerosis múltiple e infección por el virus linfotrópico humano de tipo I y II, entre otras. Sin embargo, un paciente tenía deficiencia de vitamina B12 asociada con de cobre en el momento del diagnóstico de la mielopatía. En los tres casos hubo ataxia sensitiva y en dos, la paraparesia fue el déficit motor inicial. Se deben incluir siempre la determinación de los niveles de cobre dentro del abordaje diagnóstico de todo paciente con enfermedad gastrointestinal crónica, con diarrea crónica, síndrome de mala absorción o reducción significativa de la ingestión en la dieta, y que desarrolle síntomas neurológicos sugestivos de compromiso de los cordones, ya que se ha reportado que el retraso en el diagnóstico de las mielopatías se asocia con pobres desenlaces neurológicos.

Copper deficiency can present as myelopathy by the manifestation of sensory ataxia, secondary to demyelination of the posterior cords of the spinal cord, accompanied by cytopenia, mainly anemia, and leukopenia. Case series study of three patients with myelopathy due to copper deficiency, diagnosed and managed from 2020 to 2022 in a highly complex university hospital in Colombia. Regarding gender, two cases were female patients. The age range was between 57 and 68 years. In all three cases serum copper levels were decreased, and in two of these, different causes of myelopathy affecting the posterior cords of the spinal cord were ruled out, such as vitamin B12, vitamin E and folic acid deficiency, tabes dorsalis, myelopathy due to human immunodeficiency virus, multiple sclerosis and infection by the human lymphotropic virus type I and II, among others. However, at the moment of the myelopathy diagnosis, one patient had vitamin B12 deficiency associated with copper insufficiency. All three cases presented sensory ataxia, and in two, paraparesis was the initial motor deficit. The diagnostic approach must include copper levels assessment in every case of patients with chronic gastrointestinal pathology, chronic diarrhea, malabsorption syndrome, or significant reduction in dietary intake; and the development of neurological symptoms that may suggest cord involvement. It has been reported that a delay in diagnosis can lead to poor neurological outcomes.

Tratamiento de reposición enzimática en la insuficiencia pancreática exocrina asociada a la fibrosis quística. Grupo de trabajo de Fibrosis Quística de la Sociedad Latinoamericana de Gastroenterología, Hepatología y Nutrición Pediátrica (LASPHGAN) / Enzyme replacement treatment in exocrine pancreatic insufficiency associated with cystic fibrosis. Cystic fibrosis Working group of the Latin American Society of Pediatric Gastroenterology, Hepatology and Nutrition (LASPHGAN)

La fibrosis quística (FQ) es un trastorno hereditario, de las glándulas de secreción exocrina, considerada la causa más frecuente de insuficiencia pancreática exocrina (IPE) en la infancia. Esta revisión resume el panorama del tratamiento de reposición enzimática en la IPE asociada a la FQ, las formulaciones disponibles, su dosificación y modo de administración, así como las limitaciones y desafíos actuales y las posibles áreas del desarrollo futuro

Cystic fibrosis (CF) is an inherited disorder of the exocrine secretion glands, considered the most frequent cause of exocrine pancreatic insufficiency (EPI) in childhood. This review summarizes the landscape of enzyme replacement therapy in PEI associated with CF, the available formulations, their dosage and mode of administration, as well as the current limitations and challenges and potential areas for future development.

A rare case of abetalipoproteinemia

The disease studiedhere abetalipoproteinemia (ABL) is a very rare autosomal recessive disorder which is caused by microsomal triglyceride alteration in protein gene mutation. ABL is defined by a lack of lipids and apolipoprotein B in the plasma, as well as fat malabsorption and a variety of clinical symptoms. We report a 21-year-old male with a history of persistent diarrhea, steatorrhea, and growth retardation who was born to consanguineous parents. The patient was diagnosed with ABL and was treated with dietary changes and fat-soluble vitamin replacement, as well as being monitored on an outpatient basis.

Microvillus inclusion disease: a case report and literature review / 中华围产医学杂志

Objective:To investigate the clinical features and genetic mutations of microvillus inclusion disease (MVID).Methods:Clinical features and gene sequencing results of a neonate with MVID in Children's Hospital of Chongqing Medical University in August 2019 were retrospectively analyzed. Literature was retrieved up to October 2021, with the terms of microvillus inclusion disease, congenital microvilli atrophy, MVID, MYO5B, STX3, and STXBP2 in China National Knowledge Infrastructure, Wanfang Database, VIP database, and PubMed. Clinical features, diagnosis, and treatment of the reported MVID cases were reviewed. Results:(1) Case report: A male infant presented with jaundice two days after birth and was admitted to our hospital. Clinical features included intractable diarrhea, intermittent abdominal distension, uncorrectable dehydration, and weight loss. Laboratory test results indicated metabolic acidosis, electrolyte disorder, and cholestasis. Whole exome sequencing confirmed the diagnosis of MVID in this baby boy with compound heterozygous mutations of c.1021C>T(p.Q341*) and c.1125G>A(p.W375*) in the MYO5B gene, which were inherited from the father and the mother, respectively. (2) Literature review: Except for the present case, 31 patients from 20 articles were reviewed, and the typical clinical manifestations were intractable diarrhea, accompanied by dehydration, metabolic acidosis, electrolyte disorder, etc. Some patients also developed extra-gastrointestinal symptoms, including feeding difficulties and malnutrition (8/18), respiratory distress syndrome (4/18) and jaundice/cholestasis (4/18) in patients with MYO5B mutations; feeding difficulties and malnutrition (2/5), respiratory distress syndrome (1/5), and sepsis (1/5) in patients with STX3 mutations; feeding difficulties (2/9), respiratory distress syndrome (1/9), jaundice/cholestasis (1/9), sepsis (1/9), and hypoglycemia (1/9) in patients with STXBP2 mutations. In terms of the demographic data and prenatal examination, preterm birth (8/18), fetal bowel dilatation (5/18), polyhydramnios (5/18), parental consanguinity (2/18), and meconium-stained amniotic fluid (2/18) occurred among patients with MYO5B mutations. In those with STX3 mutations, parental consanguinity (3/5), fetal bowel dilatation (1/5), polyhydramnios (1/5), and meconium-stained amniotic fluid (1/5) occurred. Of nine patients with STXBP2 mutations, parental consanguinity (3/9), preterm birth (2/9), and polyhydramnios (2/9) occurred. Conclusions:MVID has atypical clinical features and a high mortality, resulting in difficulty in the diagnosis and treatment. The possibility of MVID should be considered when an infant presents with intractable diarrhea, dehydration, metabolic acidosis, and electrolyte disorder accompanied by multiple extra-gastrointestinal symptoms. Early identification of MYO5B, STX3, and STXBP2 mutations will benefit prompt intervention, prognosis evaluation, and genetic counseling.

Olmesartan-associated Enteropathy / 中国医学科学院学报

Olmesartan,an angiotensin Ⅱ receptor blocker,is a commonly used antihypertensive drug.Several case reports and cohort studies in recent years have described a severe gastrointestinal adverse event with chronic diarrhea,intestinal malabsorption,and weight loss after the administration of olmesartan.In such cases,the patients recovered after discontinuing olmesartan.This adverse effect is called olmesartan-associated enteropathy(OAE).This article reviews the potential pathogenesis and clinical characteristics of OAE,which broadens the disease spectrum for the differential diagnosis of chronic diarrhea and intestinal malabsorption.

Association between milk consumption and lactose malabsorption in Indonesian children / 中国当代儿科杂志

OBJECTIVES@#To study the association between milk consumption and lactose malabsorption in Indonesian children aged 3-12 years.@*METHODS@#This cross sectional study was conducted in randomly selected presumed healthy children with good nutritional status aged 3-12 years in Central Jakarta, Indonesia (@*RESULTS@#The prevalence of lactose malabsorption in children aged 3-5 years and children aged 6-12 years was 20.8% (15/72) and 35.3% (36/102), respectively. There was no association between milk or milk product consumption and lactose malabsorption (@*CONCLUSIONS@#There is no association between milk consumption and lactose malabsorption in Indonesian children aged 3-12 years, suggesting that genetic predisposition may be more important than adaptive mechanisms to lactose consumption.

Coagulopatía asociada a síndrome de malabsorción por enfermedad celíaca / Coagulopathy associated with celiac disease malabsorption syndrome

This article describes a 19-y-old patient with abdominal pain and signs of malnutrition. She had been treated previously with an antibiotic for chronic diarrhea. Laboratory analyses showed the presence mild hypoalbuminemia, and considerably prolonged prothrombin time. Tests revealed that hemostasis improved after the patient received fresh frozen plasma and vitamin k. A coagulation profile showed a decrease in clotting factors V, VII, IX, and fibrinogen. Positive serology (immunoglobulin A antitissue transglutaminase and immunoglobulin A antiendomysial antibodies) and small bowel mucosal histopathology confirmed the presence of celiac disease (CD). The girl recovered completely after she was put on a gluten-free diet. Vitamin K­deficiency is a rare complication that occurs in celiac disease manifestations. In addition to antibiotic therapy, treatment with other drugs that influence vitamin K resorption and metabolism may increase the risk of bleeding in patients with CD with hypoprothrombinemia.

Enteritis por radiación: reporte de un caso y revisión de la literatura / Radiation enteritis. Case report and literature review

Resumen La enteritis por radiación es una patología causada por la radiación que se suministra durante el manejo de neoplasias radiosensibles. Esta enfermedad puede clasificarse en enteritis aguda o crónica, en las cuales es posible que se desarrollen síntomas por malabsorción u obstrucción intestinal, que alteran la calidad de vida de los pacientes. Presentamos el reporte de caso de un paciente masculino de 67 años, con antecedente de adenocarcinoma difuso con células en anillo de sello infiltrante y compromiso de todo el espesor de la pared gástrica, quien había recibido un manejo quirúrgico mediante gastrectomía total, asociado a quimio-radioterapia. El individuo consultó por síntomas de obstrucción intestinal. En principio, se consideró la existencia de una recaída tumoral. Sin embargo, se corroboró que los síntomas estaban relacionados con el compromiso causado por la radiación.

Abstract Radiation enteritis is a pathology caused by radiation therapy, used to treat radiosensitive tumors. Acute or chronic enteritis may be suspected in the presence of symptoms such as malabsorption or intestinal obstruction, which alter the patients quality of life. The following is the case report of a 67-year-old male patient, who consulted for symptoms of intestinal obstruction, with a history of diffuse type adenocarcinoma with infiltrating signet ring cells involving the entire thickness of the gastric wall. The patient underwent a total gastrectomy associated with chemoradiotherapy.

Hiperplasia linfoide de intestino delgado en escolar inmunodeprimido / Lymphoid hyperplasia of small intestine in immune-depressed student

RESUMEN Fundamento: la afección intestinal es signo clave del cuadro de inmunodeficiencia. Suele presentarse un desorden de malabsorción y diarrea, con hiperplasia nodular linfoide intestinal. La importancia del estudio de esta enfermedad radica en que debe ser detectada en etapas precoces pues estos pacientes son más susceptibles a presentar neoplasias de intestino delgado. Objetivo: presentar el caso de un escolar con diarreas crónicas, desnutrición proteico energética e inmunodeficiencia como manifestaciones de hiperplasia nodular linfoide de intestino delgado. Presentación del caso: paciente de nueve años, masculino, con historia de diarreas crónicas y desnutrición. Por esta sintomatología es remitido a consulta de Gastroenterología. Conclusiones: se debe sospechar la hiperplasia nodular linfoide de intestino delgado en pacientes pediátricos con síndrome de malabsorción intestinal. Se observó mejoría clínica de las manifestaciones digestivas, del estado de inmunidad y recuperación nutricional.

ABSTRACT Background: the intestinal affection is key sign of the immunodeficiency. It usually presents a mal-absorption disorder and diarrhea, with intestinal lymphoid nodular hyperplasia. The importance of the study of this entity resides in that it should be detected in precocious stages because these patients are more susceptible to present neoplasias of small bowel. Objective: to present the case of a student with chronic diarrheas, energy protein malnutrition and immunodeficiency like manifestations of nodular lymphoid hyperplasia of small intestine. Case report: patient of nine years, masculine, with history of chronic diarrheas and malnutrition. For these clinical symptoms he is remitted to Gastroenterology consultation. Conclusions: the nodular lymphoid hyperplasia of small bowel should be suspected in pediatric patients with syndrome of intestinal mal-absorption. Clinical improvement of the digestive manifestations, of the state of immunity, and nutritional recovery was observed.

Predictors of Malnutrition in Children with Cystic Fibrosis

Objective: To determine occurrence of malnutrition in childrenwith cystic fibrosis and identify predictors of malnutrition at time ofenrolment and after 2 years of follow up.Design: Retrospective chart review.Setting: Pediatric chest clinic at a tertiary-care center in northernIndia.Patients: Cystic fibrosis patients enrolled between 2009-2015with at least 3 years follow-up.Procedure: Weight and height were noted at enrolment, and after1 year and 2 years of follow-up. Clinical details, medications, andpulmonary exacerbations during second year were recorded.Main outcome measure: Occurrence of malnutrition i.e. weightfor age Z-score < -2.Results: 61 medical records were reviewed. Occurrence ofmalnutrition at baseline, and 1- and 2-year follow-up was 65.5%,54.1% and 57.3%, respectively. Weight for age Z-score atenrolment significantly correlated with time to diagnosis fromonset r=0.015, P=0.029). Weight for age Z-score at 2-year follow-up was significantly associated with steatorrhea (P=0.03),increased frequency of stools (P<0.01) and pulmonaryexacerbation (P=0.03) during second year. Linear regressionshowed significant association between weight for age Z-score at2 years with steatorrhea and pulmonary exacerbations [r=-0.795(-1.527, -0.062)] and [r=-0.261 (-0.493, -0.028)]. Pulmonaryexacerbations during second and third year had significantcorrelation with weight for age Z-score at the beginning ofrespective years (r = -0.219, P=0.015).Conclusion: Occurrence of malnutrition is high in children withcystic fibrosis in this region, with uncontrolled fat malabsorptionand recurrent respiratory infections being significant risk factors.

Isolation of Giardia Cyst in Paediatric Patient Under FivComparisons of Results of Type 1 Tympanoplasty Using Temporalis Fascia and Tragal Perichondrium: A Prospective Study

Introduction: Giardia lamblia is an important cause of diarrheal disease followed by malabsorption in children throughout the world and is the most frequent pathogenic intestinal protozoan infection. Children having diarrhoea with duration of more than seven days with abdominal pain comprises of Giardia infection . Around 80% of children were affected with Giardia infection as they belong from lower socioeconomical class. Giardia intestinalis causes Giardiasis which is one of the major causes of diarrheal diseases throughout the world. Infection occurred by Giardia may be either asymptomatic or may cause diarrheal illness that can be acute or chronic. In areas of poor sanitation it affects 33% of the people in the developing world. Study aimed to isolate Giardia cyst in paediatric patient under five in Kanpur Region. Material and Methods: The study was carried in the Department of Microbiology, GSVM Medical College, Kanpur, Uttar Pradesh. A total of 197 stool sample were collected and screened for Giardia through microscopy (Iodine and saline mount. Result: Among 197 samples screened. The 18 samples were positive through direct microscopy for Giardia cyst. Maximum amount of parasitic infection was found in age group 3.5-5 years. Conclusion: Stool microscopy is (gold standard); however, its sensitivity is low due to intermittent faecal shedding for Giardiasis which is a common gastrointestinal parasitic infection in tropics. Parasitic infection caused by Giardia lamblia is a major worldwide public health problem. Infection is also associated with complications in early childhood if not treated. For better management of the patients early diagnosis and treatment is required. Drinking water standards, hand hygiene, health education, safe sanitation are factors and should be given priority to minimize such infections.

La tuberculosis intestinal: un desafío diagnóstico / Intestinal tuberculosis: a challenge diagnosis

RESUMEN Fundamento: la tuberculosis es un problema de salud pública a escala mundial. Es una enfermedad sistémica que en raras ocasiones puede afectar el tracto gastrointestinal, es poco frecuente en pediatría. Constituye su diagnóstico un gran desafío. Objetivo: presentar el caso de un adolescente con manifestaciones digestivas como síntomas iniciales de la tuberculosis intestinal. Presentación del caso: paciente de 15 años de edad, masculino, con historia de dolor abdominal, diarreas crónicas, pérdida de peso y fiebre con escalofríos. Por estos síntomas es remitido a consulta de Gastroenterología. Conclusiones: se debe sospechar la tuberculosis intestinal en pacientes pediátricos con síntomas de malabsorción intestinal. Se observó mejoría clínica de las manifestaciones digestivas luego de comenzar con el tratamiento antituberculoso.

ABSTRACT Background: tuberculosis is a public health problem to a world scale. It is a systemic illness that can rarely affect the gastrointestinal tract and it is not very frequent in pediatrics. Its diagnosis constitutes a great challenge. Objective: to present the case of an adolescent with digestive issues as first symptoms of intestinal tuberculosis. Presentation of the case: 15 year-old patient, masculine, with history of abdominal pain, chronic diarrheas, loss of weight and fever with chills. For this symptomatology he was remitted to our gastroenterology consultation. Conclusions: the intestinal tuberculosis should be suspected in pediatric patients with symptoms of intestinal malabsorption. Clinical improvement of the digestive issues was observed after beginning with the antituberculous treatment.

Recent etiologies of Malabsorption syndrome among adults and features differentiating celiac disease and tropical malabsorption

Introduction: There is a constant change in the order of etiologies causing Malabsorption syndromes in India. Establishing the etiology of this challenging clinical disorder requires judicious use of a wide array of tests. Implementation of preventive health measures and improved sanitation may have changed the etiology of mal absorption syndrome. Aim: This study was aimed to document the recent etiologies of malabsorption syndromes and also to compare the features that differentiate tropical sprue from celiac disease, the recent two most common etiologies of mal absorption seen at our centre. Materials and methods: Patients seen at our centre with malabsorption syndromes from February 2016 to November 2018 were included in this study. The etiological, clinical and investigation details were recorded on uniform structured data forms. The data obtained was statistically analyzed. Results: Out of the 300 patients screened, 200 patients were included in the study; the other 100 patients were not included as they did not fit in to the inclusion criteria for malabsorption syndrome. Of these 200, 22 (11%) patients were in the age group between 13-19 years. Tropical malabsorption (n=82) was the common cause of MAS followed by celiac disease (n=42). 35 of 42 patients (83.3%) with celiac disease, who underwent test for anti-endomysial antibody, had positive result followed by giardiasis and other diseases. Of the remaining seven patients, four had low level of serum IgA, one had anti-tTG antibody and others had anti-gliadin antibody in serum. Two patients with strongyloidosis, Two patients with Chron’s and one patient with IPSID died. Frequency of recurrence Akula Sanjeevaiah, Akula Sushmitha, Thota Srikanth. Recent etiologies of Malabsorption syndrome among adults and features differentiating celiac disease and tropical malabsorption. IAIM, 2019; 6(3): 325-331. Page 326 after successful treatment was comparable among patients with celiac disease and tropical malaabsorption (two patients each) during a follow up period of 13.7 ± 16.1 and 14.7 ± 10.5 months, respectively. Conclusion: In the present study, tropical malabsorption and celiac disease were the most common causes of mal-absorption syndrome followed by giardiasis, AIDS and tuberculosis.

Dolor y distensión abdominal: abordaje diagnóstico a distintas edades / Abdominal pain and distention: diagnostic approach at different ages

Fluctuating abdominal pain and bloating suggest gastrointestinal origin with multiple causes. In adults, patients fulfilling the Rome criteria for irritable bowel syndrome (IBS) have a low probability of neoplasms or intestinal inflammatory diseases. In these patients it is cost effective to request fecal calprotectin and celiac disease serology. Due to the high probability of nocebo effect, the diagnosis of sensitivity to non celiac and food allergies should require a blind rechallenge. It is recommended to evaluate other non ominous diagnostic options in a second stage if there is not good control of symptoms. In adults that do not fulfil the criteria of IBS or in adults older than 50 it is often necessary to request more studies, including endoscopic examinations. In children, abdominal pain and bloating occur frequently in the context of excessive consumption of sugar (including fructose, lactose and sorbitol). In infants it can occur in the context of congenital malformations, infant colics and food allergies. An active search for symptoms and signs of alarm is recommended. In their absence the performance of an endoscopic study is low. The use of celiac disease serology is also recommended, but the use of fecal calprotectin has the limitation that normal values are not present below age 4, so its use is not recommended under that age.

El dolor abdominal y la distensión abdominal fluctuantes sugieren origen gastrointestinal, con múltiples causas. En adultos, los pacientes que cumplen criterios de Roma para Síndrome de Intestino Irritable (SII) tienen una baja probabilidad de neoplasias o enfermedades inflamatorias intestinales (EII). En estos pacientes, es costoefectivo solicitar calprotectina fecal y serología de enfermedad celiaca. Por la alta probabilidad de efecto nocebo, el diagnóstico de sensibilidad al gluten no celiaca (SGNC) y alergias alimentarias debería requerir un rechallenge ciego. Es recomendable evaluar otras opciones diagnósticas no ominosas en una segunda etapa, si no hay buen control sintomático. En adultos que no cumplen criterios de SII o en adultos mayores de 50 años, suele requerirse más cantidad de estudios, incluyendo endoscópicos. En niños, el dolor abdominal y distensión ocurren frecuentemente en el contexto de consumo excesivo de azúcares (incluyendo fructosa, lactosa y sorbitol). En lactantes puede ocurrir también en el contexto de malformaciones congénitas, cólicos del lactante y alergia alimentaria. Se recomienda la búsqueda activa de signos y síntomas de alarma. En su ausencia el rendimiento del estudio endoscópico es bajo. También se recomienda el uso de serología de enfermedad celíaca, pero el uso de calprotectina fecal tiene la limitación de ausencia de valores de normalidad hasta los 4 años, por lo que su uso no se recomienda bajo esa edad.

Hipotiroidismo refractario idiopático: un caso clínico / Idiopathic refractory hypothyroidism: case report

Introducción: El hipotiroidismo constituye una patología frecuente, y su tratamiento habitual es el suplemento de levotiroxina (LT4) oral (VO). Sin embargo, existen casos inhabituales donde no es posible corregir esta condición a pesar de la utilización de LT4 en dosis alta. El hipotiroidismo refractario se define como la persistencia del hipotiroidismo a pesar del uso de LT4 > 1,9 ug/kg/día. La prevalencia del hipotiroidismo refractario no ha sido suficientemente documentada hasta ahora. Descripción del caso: Mujer de 53 años con antecedentes de hipotiroidismo, obesidad, dislipidemia, hipertensión arterial e insulinorresistencia. Fue derivada desde APS a nivel terciario por hipotiroidismo persistente a pesar del uso de LT4 800 ug/día y liotironina 80 ug/día. En forma ambulatoria se descartaron distintas causas, como mala adhesión al tratamiento, pseudo-malabsorción, síndromes de malabsorción; interacciones farmacológicas o interacciones alimentarias. Ante esto, y manteniéndose en su condición, se decide hospitalizar. Durante la hospitalización se prueban distintas fórmulas de administración. Finalmente, se logra respuesta adecuada con LT4 por vía rectal 100 ug/día asociado a 100 ug c/12 horas VO. Discusión: A pesar de no contar con herramientas óptimas para enfrentar este caso, se logró aplicar una estrategia sistemática especializada, que permitió un buen manejo de la paciente. Luego de probar distintas formulaciones de hormonas tiroideas, se logró respuesta mediante la administración por vía rectal, lo cual sugiere que esta paciente presentaba algún trastorno celular/bioquímico intestinal alto, que impedía la absorción óptima de LT4 VO. Conclusiones: La principal fortaleza de este trabajo consiste en la demostración de la utilidad práctica, en un contexto de recursos limitados, de una estrategia de estudio y tratamiento sistemático del hipotiroidismo refractario, lo cual ha sido escasamente publicado en la literatura internacional. Además, se recalca la importancia de una intervención especializada oportuna para evitar los riesgos sistémicos asociados a dosis altas de hormonas tiroideas.

Introduction: Hypothyroidism is a common condition, and its usual treatment is the supplement of oral levothyroxine (po). However, there are unusual cases where it is not possible to correct this condition despite the use of high-dose levothyroxine. Refractory hypothyroidism is defined as the persistence of hypothyroidism despite the use of levothyroxine > 1.9 ug/kg/ day. The prevalence of refractory hypothyroidism has not been sufficiently documented so far. Case description: 53 year old woman with a history of hypothyroidism, obesity, dyslipidemia, hypertension and insulin resistance. She was sent from primary care to tertiary level due to persistent hypothyroidism despite the use of 800 ug/day levothyroxine and liothyronine 80 ug/ day. On an outpatient basis, different causes were excluded as poor adherence to treatment, pseudo-malabsorption, malabsorption syndromes; drug interactions or food interactions. Given this, and staying on her condition, it was decided to hospitalize. Different forms of administration were tested during hospitalization. Finally, got adequate response with levothyroxine rectally 100 ug/day associated with 100 ug po bid. Discussion: Despite not having optimum tools to deal with this case, it was succeeded thanks to the implementation of a specialized systematic strategy. After testing different formulations of thyroid hormones, a positive response by rectal administration was achieved, which suggests that this patient presented any high intestinal cell/biochemist disorder that prevented the optimal absorption of levothyroxine po. Conclusions: The main strength of this work consists in demonstrating the practical utility, in a context of limited resources, of a study and systematic treatment strategy of refractory hypothyroidism, which has barely been published in the international literature. It is also highlighted the importance of an early specialized intervention to prevent the systemic risks associated with high doses of thyroid hormones.

Utilidad de la enterotomografía axial computarizada en el diagnóstico de enteritis por Crohn / Utility of the computerized axial intestine-tomography in the diagnosis of enteritis for Crohn

RESUMEN Fundamento: la localización de la enfermedad de Crohn de intestino delgado proximal es inusual, aún menos frecuente en edad pediátrica. Objetivo: presentar el caso de un adolescente de 16 años, masculino con síndrome de malabsorción intestinal de causa no precisada. Caso clínico: paciente masculino de 16 años de edad de raza negra, que presenta diarreas crónicas de 4 años de evolución, dolor abdominal periumbilical, distensión abdominal y pérdida de peso. Por esta sintomatología acude a nuestra consulta. Conclusiones: la enterotomografía axial computarizada es una herramienta valiosa a la hora de diagnosticar la enteritis por Crohn cuando no se dispone de enteroscopios. Se debe sospechar la enfermedad de Crohn en pacientes pediátricos como causa de malabsorción intestinal. La evolución del paciente fue favorable.

ABSTRACT Background: the localization of the Crohn's disease of proximal small intestine is unusual, even less frequent in pediatric age. Objective: to present the case of an adolescent with syndrome of intestinal malabsorption of not specified cause. Clinical case: 16-years-old, black, masculine patient that has for 4 years chronic diarrheas, periumbilical abdominal pain, abdominal distension and loss of weight. For these clinical elements he goes to our consultation. Conclusion: the computerized axial intestine-tomography is a valuable tool when diagnosing the enteritis for Crohn when there is not enteroscopy. Crohn's disease should be suspected in pediatric patients as cause of intestinal malabsorption. The patient's evolution was favorable.

Hipocalcemia sintomática como manifestación de enfermedad celíaca en el adulto. Presentación de un caso y revisión de la literatura / Symptomatic hypocalcemia as a rare celiac disease manifestation in adulthood. A case presetation and literature review

Resumen La enfermedad celíaca (EC) es un padecimiento sistémico con base inmunológica caracterizado por la intolerancia al gluten. La prevalencia mundial se ha reportado aproximadamente en 1%. El diagnóstico depende de la sintomatología, pruebas serológicas y resultado de la biopsia de intestino delgado. El cuadro clínico típico se caracteriza por diarrea, malabsorción y pérdida de peso. La enfermedad celiaca fue clásicamente descrita como una enfermedad de presentación en la infancia, sin embargo, su diagnóstico en la etapa adulta se ha vuelto más común. Existe una transición en la presentación de esta entidad, desde pacientes con síntomas típicos hasta pacientes asintomáticos. La identificación de estos últimos ha sido posible por la detección de anticuerpos séricos y los hallazgos de biopsias de intestino realizadas por otro motivo. Se presenta el caso de un hombre de 57 años de edad que acude al servicio de urgencias por síntomas gastrointestinales y clínica neuropática. A la exploración física destacó la presencia de los signos de Chvostek y Trousseau. Se solicitaron estudios de laboratorio generales en los que destacó la presencia de hipocalcemia, por lo que requirió manejo con infusión de calcio intravenoso. Se complementó el abordaje con estudios que sugirieron malabsorción. Se realizó panendoscopía y colonoscopia con toma de biopsias, en las que se reportaron hallazgos sugestivos de enfermedad celiaca Marsh 3B. Finalmente, se solicitaron anticuerpos antitransglutaminasa, los cuales se reportaron postivos. Fue así que se integró el diagnóstico de EC. Se inició manejo con dieta libre de gluten con posterior mejoría.

Abstract Celiac disease (CD) is a systemic process with an immunological basis characterized by gluten intolerance. The worldwide prevalence that has been reported is of approximately 1%. The diagnosis depends on the symptomatology, serological tests and the results of a small bowel biopsy. The typical clinical presentation is characterized by diarrhea, malabsorption and weight loss. Reports describe that the celiac disease is typically found in childhood, however, its diagnosis in adulthood has become a lot more common. A transition exists in the presentation of this nosological entity, from patients with typical symptoms to patients with an asymptomatic type. The identification of the latter has been possible with the detection of serum antibodies and the findings of bowel biopsies performed for other reasons. We present the case of a 57-year old male patient who arrived to the emergency room due to gastrointestinal and neuropathic symptoms. The physical examination highlighted the presence of Chvostek and Trousseau signs. General laboratory studies were requested, and hypocalcemia was identified; hence, a treatment with intravenous calcium infusion was required. The approach was complemented with other studies that suggested malabsorption. A panendoscopy and a colonoscopy with biopsies were performed. The findings suggested a Marsh 3B celiac disease. Finally, antitransglutaminase antibodies were requested and were reported as positive; therefore, a celiac disease diagnosis was made. The treatment started with a gluten-free diet, showing a subsecuent improvement.

Celiac Crisis: an unusual presentation of gluten-sensitive enteropathy

Celiac disease (CD)­also known as gluten-sensitive enteropathy­is a chronic, genetically predisposing and autoimmune entity with a wide range of clinical manifestations triggered by gluten ingestion, which affects 1% of the general population. Currently, up to 60% of the diagnosis of CD is in adults due to the atypical course of the disease. The severe acute onset of CD­also called celiac crisis­is very uncommon and is still not well documented in adults. We report the case of a 58-year-old man who presented a 45-day history of subtle-onset diarrhea followed by malabsorption syndrome with progressive weight loss, anasarca, and electrolyte disturbances. The diagnostic work-up included an upper digestive endoscopy, which showed scalloping of the duodenal mucosa with pathological features confirmed on biopsies. Specific antibodies were positive, and a satisfactory clinical response was obtained once a gluten-free diet was started. Celiac crisis is a rare initial presentation of CD characterized by severe diarrhea, dehydration, weight loss, hypoproteinemia, and metabolic and electrolyte disturbances. Although rare, it should be considered in patients with apparently unexplained chronic diarrhea.

Diarrea poscolecistectomía, enfoque diagnóstico y terapéutico / Postcholecystectomy diarrhea, diagnostic and therapeutic approach / Postcholecystectomy diarrhea, aplicação diagnóstica e terapêutica

RESUMEN La colelitiasis es una enfermedad muy prevalente en la población general. El tratamiento de la colelitiasis, cuando se torna sintomática, es fundamentalmente quirúrgico. Una de sus complicaciones es la diarrea pos-colecistectomía que se define como la presencia de 3 o más deposiciones diarreicas por día por más de cuatro semanas en pacientes con el antecedente de colecistectomía, en ausencia de otra causa que explique la sintomatología. Debido a la incidencia reportada en la literatura alrededor del 15%, esta revisión presenta la epidemiologia, fisiopatología, diagnóstico, clasificación y tratamiento de esta patología. Adicionalmente se plantea una nueva clasificación de la patología que se correlacione con la fisiopatología.

ABSTRACT Cholelithiasis is a highly prevalent disease in general population. Treatment of cholelithiasis when it becomes symptomatic is fundamentally surgical. One of its complications is postcholecystectomy diarrhea that is defined as the presence of 3 or more watery depositions for a period longer than 4 weeks in patients with the surgical background in the absence of another cause that explains symptoms. Due to incidence reported in literature of 15%, this review presents epidemiology, physiopathology, diagnosis, classification and treatment of this disease. Additionally, a new classification of the pathology is proposed that correlates with the physiopathology.

RESUMO A colelitíase é uma doença altamente prevalente na população em geral. O tratamento da colelitíase quando se torna sintomático é fundamentalmente cirúrgico. Uma das suas complicações é a diarréia pós-elelectomicária que é definida como a presença de 3 ou mais deposições aquosas por um período superior a 4 semanas em pacientes com fundo cirúrgico na ausência de outra causa que explica sintomas. Devido à incidência relatada na literatura de 15%, esta revisão apresenta epidemiologia, fisiopatología, diagnóstico, classificação e tratamento desta doença. Além disso, propõe-se uma nova classificação da patologia que se correlaciona com a fisiopatologia.