Cholestasis occurs due to reduced synthesis of bile acids or the deficient (intra or extra-hepatic) excretion of biliary components (cholesterol, phospholipids, bile salts, bilirubin and proteins) to the small intestine. Newborns, especially preterm-born children, have a predisposition to neonatal cholestasis because of hepatic immaturity. This condition can generate systemic problems, such as choluria, acholia, hypercholesterolemia and hyperbilirubinemia.(,)It can also change the structural composition or thickness of the mineralized dental tissues, enamel and dentine, leading to intrinsic chromatic changes due to […]

An otherwise healthy 57-year-old female patient with no risk factors for coronary artery disease presented to the emergency room with acute chest pain. The patient had been taking appetite suppressant (dimethylamylamine, Oxyelite Pro, (USP Labs) for the last 7 days., Electrocardiography showed no abnormalities although both serum creatinine kinase-MB (3.59ng/mL) and troponin I (8,310pg/mL) were elevated. Coronary angiography revealed extensive and abrupt lumen narrowing in the obtuse marginal with a subtle intraluminal defect within the distal part of the vessel […]

Incontinentia pigmenti (IP) is a rare genodermatosis transmitted as an X-linked dominant trait, occurring in 1:50,000 newborns.(–) It is frequently lethal in males.(–) In this disease, basal cells in the epidermis lose melanin that is collected in the dermis.(,) Typically, skin manifestations progress through four stages: vesicular (evident at birth or within the first few postnatal weeks); verrucous; hyperpigmented, and hypopigmented.(–) Extracutaneous involvement occurs in 80% of patients.() A skin biopsy and/or genetic testing for mutations in NEMO/IKK-gamma confirm the […]

Acute myeloid leukemia (AML) results from accumulation of abnormal blasts in the bone marrow, interfering with hematopoiesis.() Multiparametric flow cytometry is an important and well-known tool for AML diagnosis and for monitoring of minimal residual disease.() However, this technique is still poorly explored to elucidate clonal evolution of the leukemia. We present laboratory observations of a pediatric AML case whose multiparametric flow cytometry data provided evidences of clonal history of leukemia from the diagnosis through relapses episodes. A 7-year-old patient, […]

A 5-year-old boy with previous history of frontal sinus fracture, 2 years ago, with conservative treatment and no current surgical follow-up. Upon admission, he had sudden onset of fever, severe swelling over the right eyelid and supraciliary region, and painful ocular movement. Physical examination showed no other alterations, therefore, excluding neurological compromise. Laboratory tests revealed raised inflammatory markers. For staging the extent of inflammation and exclude intracranial complications a computed tomography scan of the head and orbits was performed and […]

A 57-year-old white man with no significant past medical history presented to the county hospital emergency room with complaints of increasing fatigue and lightheadedness over the past year. Upon further questioning, he revealed a large ulcerative lesion on his upper back that he reported started as a small ulcer and progressed to its current size over a 16-year period. The patient had not sought any medical attention throughout this time. The patient had no known history of malignancy, immunosuppressive conditions, […]

A 10-year-old girl presented with a painless, slow-growing swelling on left pre-auricular region that was noticed for 2 years (). The swelling was bosselated, non-tender, firm-to-hard on palpation, had poorly-defined margin, and measured approximately 3.5cm x 3.0cm. In addition, it had restricted mobility, and seemed to be of parotid origin, with overlying skin apparently stretched and fixed. The ultrasonography was unable to delineate the depth and confirm the involvement of the parotid, although fine needle aspiration cytology (FNAC) suggested pleomorphic […]

A 9-year-old girl with adequate growth and psychomotor development for her age was referred to our emergency service in March 2012 due to epigastralgia, postprandial vomiting, which started 2 days earlier, and a solid mobile epigastric mass of hard consistency. The patient had a history of trichophagia and, 2 years before she had been submitted to a laparotomy for removal of a large gastric trichobezoar. The upper gastrointestinal endoscopy confirmed the diagnosis of gastric trichobezoar. An anterior laparotomy was performed […]

This is the case of a male newborn whose mother during pregnancy was treated with chloropromazine, topiramate and diazepam, but without any other relevant family history, especially related with congenital malformation. At 34 weeks of gestation, the fetus was diagnosed with transposition of the great arteries (TGA). He born at 37 weeks of gestation, his birth weight was 3,229g and Apgar score 1/7/8. After delivery the he was maintained on invasive ventilation. The postnatal confirmation of TGA was carried out […]

Pneumomediastinum in full-term newborn is associated with meconium aspiration syndrome, hyaline membrane disease, mechanical ventilation or traumas related with labor. The spontaneous neonatal pneunomediastinum is rare. We present imaging exams crucial for the diagnosis of a clinical case of pneumomediastinum in a newborn.(,) This is a radiology exam of a newborn whose mother pregnancy was monitored and occurred without intercurrences. The infant born at 38 weeks of gestation by vacuum assisted delivery, immediate crying and Apgar score of 9/10. The […]