Analysis of 9 cases of drug induced hypersensitivity syndrome related hemophagocytic lymphohistiocytosis / 中华儿科杂志

Objective: To analyze the clinical features,treatment and prognosis of drug induced hypersensitivity syndrome related hemophagocytic lymphohistiocytosis (DIHS-HLH). Methods: This was a retrospective case study. Clinical characteristics, laboratory results, treatment and prognosis of 9 patients diagnosed with DIHS-HLH in Beijing Children's hospital between January 2020 and December 2022 were summarized. Kaplan-Meier survival analysis was used to calculate the overall survival rate. Results: Among all 9 cases, there were 6 males and 3 females, with the age ranged from 0.8 to 3.1 years. All patients had fever, rash, hepatomegaly and multiple lymph node enlargement. Other manifestations included splenomegaly (4 cases), pulmonary imaging abnormalities (6 cases), central nervous system symptoms (3 cases), and watery diarrhea (3 cases). Most patients showed high levels of soluble-CD25 (8 cases), hepatic dysfunction (7 cases) and hyperferritinemia (7 cases). Other laboratory abnormalities included hemophagocytosis in bone marrow (5 cases), hypofibrinogenemia (3 cases) and hypertriglyceridemia (2 cases). Ascending levels of interleukin (IL) 5, IL-8 and interferon-γ (IFN-γ) were detected in more than 6 patients. All patients received high dose intravenous immunoglobulin, corticosteroid and ruxolitinib, among which 4 patients were also treated with high dose methylprednisolone, 2 patients with etoposide and 2 patients with cyclosporin A. After following up for 0.2-38.6 months, 7 patients survived, and the 1-year overall survival rate was (78±14)%. Two patients who had no response to high dose immunoglobulin, methylprednisolone 2 mg/(kg·d) and ruxolitinib died. Watery diarrhea, increased levels of IL-5 and IL-8 and decreased IgM were more frequently in patients who did not survive. Conclusions: For children with fever, rash and a suspicious medication history, when complicated with hepatomegaly, impaired liver function and high levels of IL-5 and IL-8, DIHS-HLH should be considered. Once diagnosed with DIHS-HLH, suspicious drugs should be stopped immediately, and high dose intravenous immunoglobulin, corticosteroid and ruxolitinib could be used to control disease.

Colangiocarcinoma intrahepatico con manifestaciones clínicas atípicas: reporte de caso / Intrahepatic cholangiocarcinoma with atípical clinical manifestations, case report

El colangiocarcinoma es una neoplasia de la vía biliar, siendo el segundo cáncer hepático primario más frecuente en el mundo, con una incidencia del 2%. Predomina enhombres, la sobrevida en estados tempranos es de 40 meses con cirugíay 12 meses con quimioterapiaen estados mas avanzados.Objetivo:identificar manifestaciones clínicas no específicas, que orienten al médico a realizar un diagnóstico temprano del Colangiocarcinoma. Presentación del caso clínico: paciente masculino, en la sexta década de la vida, diabético, con historia de 18 meses de presentar fatiga y tos seca sin predominio de horario, durante el proceso diagnóstico se encontró hepatomegalia y anemia microcítica hipocrómica.La tomografía computarizada abdominal, reveló masa heterogénea en hígado. El resultado de los marcadores tumorales CA 19.9 y antígeno carcinoembrionario fueron normales.Conclusión: el colangiocarcinoma es un tipo de cáncer que se puede presentar con síntomas inespecíficos por lo que la sospecha clínica puede ser difícil y debe apoyarse en estudios complementarios...(AU)

Infección al sistema nervioso por toxocara canis en Hospital Escuela Universitario, Honduras / Nervous system infection by Toxocara Canis in the University School Hospital, Honduras

La toxocariosis es una enfermedad provocada por nematodos; actualmente se cataloga una de las zoonosis prevalentes a nivel mundial, especialmente en áreas rurales, se presenta a cualquier edad de la vida. Se presenta el primer caso publicado de neurotoxocariosis canis en Honduras. Objetivo: orientar al lector sobre el comportamiento de esta enfermedad y su sospecha clínica en paciente con contacto canino. Caso clínico: paciente masculino con 14 meses de edad, en contacto con perros de su comunidad, con historia de fiebre y convulsiones; al examen físico hepatomegalia y signo Babinski (+). Laboratorialmente presentó hipereosinofilia y en estudio de imágenes edema cerebral difuso. Se realizó ELISA por Toxocara y resultó positivo, de acuerdo al resultado se sospechó toxocariosis no clásica. Conclusión: la presentación no típica de esta enfermedad es rara, la similitud de la sintomatología con otras enfermedades hace de la práctica clínica de difícil diagnóstico. Es importante tener presente esta forma no clásica de esta enfermedad...(AU)

Peliosis hepatis presenting with massive hepatomegaly in a patient with idiopathic thrombocytopenic purpura

Peliosis hepatis is a rare condition that can cause hepatic hemorrhage, rupture, and ultimately liver failure. Several authors have reported that peliosis hepatis develops in association with chronic wasting disease or prolonged use of anabolic steroids or oral contraceptives. In this report we describe a case in which discontinuation of steroid therapy improved the condition of a patient with peliosis hepatis. Our patient was a 64-year-old woman with a history of long-term steroid treatment for idiopathic thrombocytopenic purpura . Her symptoms included abdominal pain and weight loss; the only finding of a physical examination was hepatomegaly. We performed computed tomography (CT) and magnetic resonance imaging (MRI) of the liver and a liver biopsy. Based on these findings plus clinical observations, she was diagnosed with peliosis hepatis and her steroid treatment was terminated. The patient recovered completely 3 months after steroid discontinuation, and remained stable over the following 6 months.

Three cases of glycogenic hepatopathy mimicking acute and relapsing hepatitis in type I diabetes mellitus

Glycogenic hepatopathy (GH) is an uncommon cause of serum transaminase elevation in type I diabetes mellitus (DM). The clinical signs and symptoms of GH are nonspecific, and include abdominal discomfort, mild hepatomegaly, and transaminase elevation. In this report we describe three cases of patients presenting serum transaminase elevation and hepatomegaly with a history of poorly controlled type I DM. All of the cases showed sudden elevation of transaminase to more than 30 times the upper normal range (like in acute hepatitis) followed by sustained fluctuation (like in relapsing hepatitis). However, the patients did not show any symptom or sign of acute hepatitis. We therefore performed a liver biopsy to confirm the cause of liver enzyme elevation, which revealed GH. Clinicians should be aware of GH so as to prevent diagnostic delay and misdiagnosis, and have sufficient insight into GH; this will be aided by the present report of three cases along with a literature review.

Absceso hepático amebiano / Hepatic amebic abscess: a case presentation

Presentación del caso de un paciente masculino de 74 años de edad ingresado en el Hospital de Tela, Departamento de Atlantida, sin antecedentes patológicos, con historia de ocho días de fiebre continua, con escalofríos, diaforesis, dolor en hipocondrio derecho y epigastrio, mal estado general y al examen físico: dolor a la palpación superficial de hipocondrio derecho. Se ingresó a sala con el diagnóstico de probable infección de tracto urinario, se realizó estudios de laboratorio presentando leucocitosis leve, aumento de las enzimas hepáticas con un primer ultrasonido al tercer día después de ingresar en el hospital describiendo el absceso hepático en base a su ecogenicidad, dimensiones, localización y probable causa. El presente estudio de caso es para realizar una discusión de esta enfermedad y la importancia de un diagnóstico rápido y oportuno de la misma para la mejoría de los pacientes...

Dorfman-Chanarin syndrome.

A four-year-old girl was brought to the dermatology outpatient department with scaling all over the body since birth. She had history of episodic vomiting and abdominal distension. A dermatological diagnosis of lamellar ichthyosis was made. Abdominal examination revealed a nontender hepatomegaly, fatty liver on ultrasonography and deranged liver function tests. Peripheral blood smear showed lipid vacuoles in the granulocytes consistent with Jordans' anomaly. Similar lipid vacuoles were seen in the basal layer in skin biopsy. An inflammatory infiltrate, moderate fibrosis in the portal tract and diffuse severe fatty change in hepatocytes were seen in liver biopsy. The patient was diagnosed as a case of Dorfman-Chanarin syndrome.

Pyknodysostosis: visceral manifestations and simian crease.

Pyknodysostosis is a rare autosomal recessive osteosclerosing skeletal disorder caused by mutations in the CTSK gene situated at 1q21 that codes for cathepsin K - a lysosomal cysteine protease. Mutations in this gene affect the metabolism of skeletal system. This causes problems in bone resorption and remodelling and craniofacial abnormalities. In this article we report a case of 12 year old female from Punjab with pyknodysostosis having hepatosplenomegaly and simian crease.

Two Cases of Systemic Amyloidosis Presenting with Abnormalities in Liver Function Tests / 대한소화기학회지

Systemic amyloidosis results from the deposition of insoluble, fibrous amyloid proteins. It occurs mainly in the extracellular spaces of multiple organs and tissues including the kidney, heart, and liver. Although amyloid deposition in the liver is common in patients with systemic amyloidosis, clinically apparent liver disease is relatively rare. Indeed, most patients with systemic amyloidosis manifest only minimal to moderate hepatomegaly and trivial abnormalities in liver function tests. Recently, we experienced two cases of patients who presented with abnormalities in liver function tests and hepatomegaly as manifestations of systemic amyloidosis. We report these cases with a review of the relevant literatures.

Cirrosis hepatiaa en lactante: una forma de presentacion de la tiroinnemia / Hepatic circosis in infant: a form of presentation of thyrosynemia

We present two documented cases of patients with Tyrosinemia type I (Hepatorenal Tyrosinemia) in infants. The most constant imaging findings in target organs: Liver (Hepatic Cirrhosis), Kidneys (Nefromegaly) are described and compared with pathological findings in one case. In the presence of confusing clinical manifestations, radiological findings of hepatic cirrhosis in infants associated with renal involvement are almost diagnostic of this entity.

Se presentan 2 casos documentados de lactantes portadores de Tirosinemia tipo I (Hepatorenal). Se describen los hallazgos imagenológicos principales de ella en los órganos blanco: Hígado (Cirrosis Hepática) y riñones (Nefromegalia) y se confrontan con los de la anatomía patológica en un caso. En un lactante, con un cuadro clínico poco claro, el hallazgo imagenológico de cirrosis hepática sumado a un compromiso renal, deben hacer plantear el diagnóstico de tirosinemia.

Congenital Monoblastic Leukemia with 9;11 Translocation in Monozygotic Twins: A Case Report

We report an autopsy case of congenital monoblastic leukemia that developed in monozygotic twins. The twin presented with progressive hepatosplenomegaly at 4 weeks after birth. One twin died of massive bleeding and hypovolemic shock before the treatment started. At autopsy, the liver was diffusely enlarged and showed a diffuse whitish discoloration except for the subcapsular and perivenular areas. Microscopic examination disclosed infiltration of histiocyte-like atypical cells along the sinusoids and portal areas of the liver. Spleen, lymph nodes and choroid plexus were also infiltrated by the tumor cells. However, bone marrow involvement of the tumor was minimal although multifocal. On immunohistochemical staining, these atypical cells were reactive for CD68 (PGM-1) and lysozyme, suggesting that the tumor cells might have been derived from mono- histiocyte. Cytogenetic study revealed 9;11 translocation, which is frequently associated with acute monoblastic leukemia. To the best of our knowledge, this is the first report of congenital monoblastic leukemia of monozygotic twins in Korea.

Nephrotic syndrome associated with hepatointestinal schistosomiasis

Schistosomal nephropathy has long been related to the hepatosplenic form of schistosomiasis. In the last few years, 24 patients with hepatointestinal schistosomiasis and the nephrotic syndrome were studied. Aiming at evaluating a possible etiologic participation of schistosomiasis in the development of the nephropathy, this group was comparatively studied with a group of 37 patients with idiopathic nephrotic syndrome. Both groups had a different distribution of the histologic lesions. In the group with schistosomiasis there was a statistically significant prevalence of proliferative mesangial glomerulonephritis (33.3%), whereas in the control group there was prevalence of membranous glomerulonephritis (32.4%). On immunofluorescence, IgM was positive in 94.4% of the patients with schistosomiasis versus 55.0% in the control group (P < 0.01). In the group with schistosomiasis, 8 patients evidenced mesangial proliferative glomerulonephritis and 5, membranoproliferative glomerulonephritis. In both histological types immunofluorescence showed IgM and C3 granular deposits in the glomeruli. The data in this study suggests that mesangial proliferative and membranoproliferative glomerulonephritis, with glomerular granular IgM and C3 deposits, represent the renal lesions of the schistosomiasis associated nephropathy

The effect of praziquantel treatment on liver and spleen size of children with schistosomiasis in Napu Valley, central Sulawesi.

Forty-six school children with japonicum schistosomiasis living in a village at Napu Valley, Indonesia were treated with praziquantel at a dosage of 70 mg/kg in two divided doses in a day. The number of children with palpable liver dropped significantly from 95.6% before treatment to 58.7% after treatment. The size of the liver was reduced in the majority of cases with a virtual disappearance of cases with very large liver (10 cm). Post-treatment increase of the liver size was observed in all 8 cases with small pre-treatment livers (0.5-1 cm). In contrast to the changes of the size of the liver after treatment, the number of children with palpable spleens before and after treatment was not significantly altered.

Pulmonary tuberculosis in an infant with AIDS: a case report

Reportamos el caso de un infante de nueve meses de edad referído al Hospital Pediátrico Universitario con pulmonía. En admisión el paciente presentó angustia respiratoria, linfadenipatía generalizada y hepatoesplenomegalia. Infección simultánea con Mycobacterium tuberculosis y el Virus de Immunodeficiencia Humana (HIV) fue documentada. La epidemiología, el diagnóstico y manejo de niños con el Síndrome de Immunodeficiencia Adquirida (SIDA) se discuten, se presentan recomendaciones en el manejo de niños con infección combinada de HIV y tuberculosis

Evoluçäo da glomerulonefrite membrano-proliferativa em pacientes com a forma hepatosplênica da esquistossomose mansônica / Evolution of membrano proliferative glomerulonephritis in patients with the hepatosplenic form of schistosomiasis mansoni

Com o objetivo de estudar o curso clínico e a influência terapêutica na glomerulonefrite membrano-proliferativa em pacientes com a forma hepatosplênica da esquistossomose mansônica, dois grupos foram estudados: o primeiro, constituído por 21 pacientes portadores de glomerulonefrite membrano-proliferativa e esquistossomose mansônica, forma hepatosplênica, e o segundo, formado por 19 pacientes também portadores de glomerulonefrite membrano-proliferativa porém sem qualquer evidência de doença sistêmica associada (forma idiopática). Todos os pacientes foram submetidos a cuidadoso exame clínico e avaliaçäo laboratorial; o diagnóstico da esquistossomose mansônica, forma hepatosplênica, foi feito através da demonstraçäo, nas fezes, de ovos viáveis de S. mansoni e, ao exame físico, pela demonstraçäo da hepatomegalia e esplenomegalia ou documentaçäo da esplenectomia prévia. Outras causas de hepatomegalia e esplenomegalia e a presença de doenças sistêmicas comprovadamente associadas a glomerulopatias foram apropriadamente afastadas. A análise dos grupo de pacientes acima referidos indicou que: Síndrome nefrótica foi manifestaçäo clínica mais comum da glomerulopatia, em ambos os grupos. Por ocasiäo da primeira manifestaçäo clínica da glomerulonefrite membrano-proliferativa alguns pacientes já apresentaram hipertensäo arterial e/ou diminuiçäo da funçäo renal; esses achados, isolados ou associados, se relacionaram a um progóstico mais reservado. Exceto pela hepatosplenomegalia, näo houve diferença entre os dois grupos de pacientes analisados, tanto clínica quanto histologicamente...