Hepatitis C in Children and Adolescents of a Brazilian Tertiary Center: Identifying Patients Eligible for Direct-Acting Antivirals.

We evaluated 113 pediatric patients with chronic hepatitis C from 2009 to 2019 at a Brazilian tertiary center. Seventy patients received pegylated-interferon treatment. The sustained virologic response was 61.4%, and 92.8% reported side effects. Currently, we are following 39 patients with chronic hepatitis C, 24 of whom are eligible for treatment with direct-acting antivirals according to Brazilian recommendations.

Lysosomal acid lipase deficiency in Brazilian children: a case series / Deficiência de lipase ácida lisossomal em crianças brasileiras: casuística

Abstract Objective: To describe the demographic, clinical, laboratory and molecular characteristics of patients with lysosomal acid lipase deficiency. Methods: A retrospective review of the medical records of children with the disease. Results: Seven children with lysosomal acid lipase deficiency (5 male; 2 female); 6 were mixed race, and 1 was black. The mean ages at the first onset of symptoms and at diagnosis were 5.0 years (4 months to 9 years) and 6.9 years (3-10 years), respectively. Symptom manifestations at onset were: 3 patients had abdominal pain, one had bone/joint pain due to rickets, and 1 had chronic diarrhea and respiratory insufficiency due to interstitial pneumonitis. One was asymptomatic, and clinical suspicion arose due to hepatomegaly. Six patients had hepatomegaly, and none had splenomegaly. Two patients were siblings. Enzymatic assay and molecular analysis confirmed the diagnoses. Genetic analysis revealed a rare pathogenic variant (p.L89P) in three patients, described only once in medical literature and never described in Brazil. None of those patients were related to each other. Lysosomal acid lipase deficiency was previously described as an autosomal recessive disease, but three patients were heterozygous and undoubtedly had the disease (low enzyme activity, suggestive lab findings and clinical symptoms). Conclusion: This case series supports that lysosomal acid lipase deficiency can present with highly heterogeneous signs and symptoms among patients, but it should be considered in children presenting with gastrointestinal symptoms associated with dyslipidemia. We describe a rare variant in three non-related patients that may suggest a Brazilian genotype for lysosomal acid lipase deficiency.

Resumo: Objetivo: Descrever as características demográficas, clínicas, laboratoriais e moleculares de pacientes com deficiência de lipase ácida lisossomal. Métodos: Análise retrospectiva dos prontuários médicos de crianças com a deficiência de lipase ácida lisossomal. Resultados: Sete crianças com deficiência de lipase ácida lisossomal (5 M:2F); seis eram pardas e uma negra. As faixas etárias no início dos sintomas e no diagnóstico foram 5 anos (4 meses a 9 anos) e 6,9 anos (3 a 10 anos), respectivamente. As manifestações dos sintomas no início foram as que seguem: três pacientes apresentaram dor abdominal, um apresentou dor nos ossos/articulações devido a raquitismo e um apresentou diarreia crônica e insuficiência respiratória devido à pneumonite intersticial. Os outros não apresentaram sintomas e a suspeita clínica surgiu devido à hepatomegalia. Seis pacientes apresentaram hepatomegalia e um apresentou esplenomegalia. Dois pacientes eram irmãos. O ensaio enzimético e a análise molecular confirmaram os diagnósticos. A análise genética revelou uma variante patogênica rara (p.L89P) em três pacientes, descrita uma única vez na literatura médica e nunca descrita no Brasil. Nenhum desses pacientes tinha parentesco com os outros. A deficiência de lipase ácida lisossomal foi anteriormente descrita como uma doença recessiva autossômica, porém três pacientes eram heterozigotos e, sem dúvida, apresentaram a doença (atividade enzimática baixa, achados laboratoriais sugestivos e sintomas clínicos). Conclusão: Esta casuística afirma que a deficiência de lipase ácida lisossomal pode se manifestar com sinais e sintomas altamente heterogêneos entre os pacientes, porém deve ser considerada em crianças que apresentam sintomas gastrointestinais associados à dislipidemia. Descrevemos uma variante rara em três pacientes não relacionados que pode sugerir um genótipo brasileiro para deficiência de lipase ácida lisossomal.

Lysosomal acid lipase deficiency in Brazilian children: a case series.

OBJECTIVE: To describe the demographic, clinical, laboratory and molecular characteristics of patients with lysosomal acid lipase deficiency. METHODS: A retrospective review of the medical records of children with the disease. RESULTS: Seven children with lysosomal acid lipase deficiency (5 male; 2 female); 6 were mixed race, and 1 was black. The mean ages at the first onset of symptoms and at diagnosis were 5.0 years (4 months to 9 years) and 6.9 years (3-10 years), respectively. Symptom manifestations at onset were: 3 patients had abdominal pain, one had bone/joint pain due to rickets, and 1 had chronic diarrhea and respiratory insufficiency due to interstitial pneumonitis. One was asymptomatic, and clinical suspicion arose due to hepatomegaly. Six patients had hepatomegaly, and none had splenomegaly. Two patients were siblings. Enzymatic assay and molecular analysis confirmed the diagnoses. Genetic analysis revealed a rare pathogenic variant (p.L89P) in three patients, described only once in medical literature and never described in Brazil. None of those patients were related to each other. Lysosomal acid lipase deficiency was previously described as an autosomal recessive disease, but three patients were heterozygous and undoubtedly had the disease (low enzyme activity, suggestive lab findings and clinical symptoms). CONCLUSION: This case series supports that lysosomal acid lipase deficiency can present with highly heterogeneous signs and symptoms among patients, but it should be considered in children presenting with gastrointestinal symptoms associated with dyslipidemia. We describe a rare variant in three non-related patients that may suggest a Brazilian genotype for lysosomal acid lipase deficiency.

Acute Hemorrhagic Edema of Infancy: an unusual diagnosis for the general pediatrician.

Acute Hemorrhagic Edema of Infancy (AHEI) is a rare leukocytoclastic vasculitis, clinically characterized by the classical triad: palpable purpuric skin lesions, edema and fever, and is commonly misdiagnosed as Henoch-Schönlein purpura. In addition to its sudden onset, AHEI is also characterized by its self-limited course with complete and spontaneous recovery occurring between 1 and 3 weeks. Because of the scarcity of studies on therapy with corticosteroids, the conservative approach is usually recommended. The authors report an unusual case of an one-year-old boy who presented with typical cutaneous rash of AHEI and orchitis, the latter showing complete resolution after less than 24 hours of prednisolone therapy. The authors call attention to this entity mainly as a differential diagnosis of Henoch-Schönlein purpura and to the importance of new studies to establish the benefits of corticosteroid therapy for AHEI.

Hemophagocytic syndrome: a dilemma chasing the intensivists.

Hemophagocytic lymphohistiocytosis or hemophagocytic syndrome is represented by an uncontrolled inflammatory response characterized by marked histiocyte activation and a cytokine storm. The entity may present a primary or genetic type, and the secondary type is usually triggered by infectious diseases of any kind, autoimmune disease, or neoplasia. This entity, although well described and with definite diagnostic criteria, still remains misdiagnosed because of the overlap presentation with other inflammatory processes. The authors present the case of a 13-year-old girl who was submitted to an appendicectomy complicated with a pericolic abscess, which required a second operation in order to be drained surgically. During the postoperative period of this second surgical procedure, the patient remained febrile, developing cytopenias, and multiple organ failure. Unfortunately, she died despite the efforts of the intensive care staff. The autopsy findings were characteristic of hemophagocytic syndrome. The authors report the case to call attention to this diagnosis whenever unexpected outcomes of infections are experienced.

Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblings.

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, developmental lung disorder, which has been increasingly reported. This entity usually presents as neonatal persistent pulmonary hypertension that is unresponsive to treatment, and is known to be uniformly fatal. Recent discoveries in the genetic field, and intensive treatments, may change the natural course of this disease, permitting easier diagnosis and giving new hope for the dismal prognosis. The authors present two cases of siblings, with two years of difference, from different fathers - one of them was a first-degree and the other a second-degree cousin of the mother. Both patients were full-term babies born apparently without malformations and were sent to the nursery. Both siblings near 35 hours of age presented severe respiratory failure due to pulmonary hypertension. The outcome was fatal in both cases and at autopsy ACD/MPV was diagnosed. The authors call attention to this entity in the differential diagnosis of acute respiratory distress in early life.

Pertussis: the resurgence of a public health threat.

Pertussis is an acute and very contagious pulmonary disease, clinically characterized by periods of coughing and paroxysms that may cause death. The disease afflicts mainly the pediatric population and is life threatening to children under the age of 1 year. Since the beginning of the second millennium, the number of cases of pertussis has increased, menacing public health, despite the availability of the pertussis vaccine. The resurgence of the disease among adults and older children creates a reservoir of infection that will afflict the unimmunized or incompletely immunized children. As newborns and infants show the highest mortality rate, immunization during pregnancy is a new strategy to reduce the burden of pertussis. The authors report the case of a newborn that presented respiratory distress accompanied by marked leukocytosis. Bronchiolitis was the initial diagnostic hypothesis, but the clinical picture became typical of pertussis when paroxysmal coughing ensued. Isolation of the Bordetella pertussis and antigenic demonstration by polymerase chain reaction were positive from respiratory secretion. Despite appropriate antibiotic therapy and intensive care management the child died and the autopsy showed characteristic diagnostic findings. The authors call attention to this diagnosis when facing respiratory failure among young children, mainly in the presence of marked leukocytosis. Thorough research on the immunization status of the patient's social environment is of crucial importance.

Bacterial sinusitis and its frightening complications: subdural empyema and Lemierre syndrome.

The symptoms of a previously healthy 14-year-old female with an initial history of tooth pain and swelling of the left maxillary evolved to a progressive headache and altered neurological findings characterized by auditory hallucinations, sleep disturbances, and aggressiveness. She was brought to the emergency department after 21 days of the initial symptoms. An initial computed tomography (CT) scan showed frontal subdural empyema with bone erosion. The symptoms continued to evolve to brain herniation 24 hours after admission. A second CT scan showed a left internal jugular vein thrombosis. The outcome was unfavorable and the patient died on the second day after admission. The autopsy findings depicted rarefaction of the cranial bone at the left side of the frontal sinus, and overt meningitis. The severe infection was further complicated by thrombophlebitis of the left internal jugular vein up to the superior vena cava with septic embolization to the lungs, pneumonia, and sepsis. This case report highlights the degree of severity that a trivial infection can reach. The unusual presentation of the sinusitis may have wrongly guided the approach of this unfortunate case.

Subserous lymphangioma of the sigmoid colon: an uncommon cause of acute abdomen in pediatric patients.

Lymphangioma is a rare, benign lesion derived from a malformation of the lymphatic system, which is more frequently found in the head, neck, and axilla. However, it may be present anywhere in the body, and the diagnosis involves adults as children with some distinct clinical features among them. In pediatric patients, abdominal cystic lymphangioma occurs mostly in the mesentery presenting abdominal pain, intestinal obstruction, or, more rarely, hemorrhage. The authors report the case of a child with a short-course history of fever, abdominal pain, and constipation. The physical examination disclosed the presence of an abdominal mass and signs of peritoneal irritation. Imaging was consistent with a cystic lesion compressing the sigmoid colon and laterally displacing the remaining loops. Exploratory laparotomy was undertaken, and a sigmoidectomy, followed by Hartman's colostomy, was performed. Histological examination revealed the nature of the lesion as a cystic lymphangioma. The authors highlight the clinical features of this entity and call attention to this disease in the differential diagnosis of acute abdomen or abdominal pain, mainly in pediatric patients.

Otomastoiditis caused by Sphingomonas paucimobilis: case report and literature review.

Sphingomonas paucimobilis is an aerobic Gram-negative bacillus that, although rare in humans, most commonly infects immunocompromised and hospitalized patients. Among the 59 pediatric cases of S. paucimobilis infection reported in the literature, the most common diagnosis involves isolated bacteremia. These cases are related to sporadic or epidemic infections. Death related to this infection occurred in only one case. The authors report a case of an 11-year-old boy with the diagnosis of Sphingomonas paucimobilis otomastoiditis and a thorough review of the literature on this infection in pediatrics. The patient presented a 20-day history of fever, otalgia, otorrhea, and progressive retroauricular swelling with protrusion of the left ear; despite 15 days of amoxicillin regimen. His past medical history included chronic bilateral otitis media, but no cause of immunosuppression was found. A brain computed tomography scan showed left otomastoiditis associated with a large circumscribed fluid collection with deep involvement of the soft tissues of the temporal region, including the subperiosteal space. Blood tests showed neutrophilia and elevated C-reactive protein. Surgical manipulation of the cited collection drained a large amount of a fetid purulent secretion. Ceftazidime and clindamycin were empirically initiated. The outcome was favorable, with fever defervescence and resolution of the scalp deformation. Culture of the drained secretion was positive for S. paucimobilis. Ciprofloxacin was scheduled for a further 10 days after discharge. The follow-up showed complete recovery. As far as we know, this is the first case of S. paucimobilis otomastoiditis, complicated with subperiosteal abscess in an immunocompetent child. The authors call attention to the increasing number of reports on S. paucimobilis infection over the years, and therefore to the importance of this pathogen, which was previously underestimated.