CIR PED - Artigos
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- Valentino Syndrome: Case ReportPublication . Sacras, ML; Reino Pires, P; Ladeira, C; Knoblich, M; Pereira, S; Alves, RAbdominal pain is a common complaint in the pediatric emergency department. Perforation of a peptic ulcer is a rare occurrence in children and is a commonly overlooked etiology. This study presents a case of a previously healthy 16-yearold male presenting with right lower quadrant abdominal pain. Physical examination, laboratory test, and ultrasound results were suggestive of acute appendicitis. The laparoscopy results, which showed a normal appendix, and the following clinical findings, led to the diagnosis of a perforated pre-pyloric ulcer. Valentino syndrome occurs when a patient with a perforated ulcer presents with pain in the right lower quadrant, which mimics appendicitis, a far more common condition.
- Massive Blood Loss from Urethrorrhage in a 16-year-old boy: Case Report and Review of Two Rare CausesPublication . Ascensão, J; Sobral, MC; Lima, S; Vaz Silva, A; Pratas Vital, V; Cardoso, D; Alves, F; Alves, RUrethral varices and hemangiomas are rare, underreported conditions that can be asymptomatic or present with intermittent urethrorrhage that can start or worsen with erection, sexual intercourse and ejaculation. Diagnosis can be made with urethroscopy and there are a wide variety of possible treatments that can suit both conditions. We present a case of a pediatric patient with severe blood loss from urethral varices that was treated with electrofulguration after laser treatment with Holmium failed.
- Pneumonectomy in a Child with Necrotic Lung after Ingestion of a Button BatteryPublication . Stilwell, R; Silva, C; Alves, R; Afonso, I; Calvinho, P; Malta, AC
- Colon Stricture after Hemolytic Uremic SyndromePublication . Sacras, ML; Ladeira, C; Pereira, SC; Alves, R
- Left Hepatic Trisegmentectomy vwith Partial Inferior Vena Cava Resection an Right Atrium Thrombectomy Under Extracorporeal CirculationPublication . Sobral, MC; Kyt, CC; Oliveira Souza, G; Alves, R; Marques, HPO carcinoma hepatocelular representa cerca de 20% dos tumores malignos hepáticos em idade pediátrica. Constitui um grupo de tumores de tratamento difícil por serem tumores volumosos, muitas vezes irressecáveis, tipicamente na adolescência.
- Clinical, Molecular Characterization and Long-Term Follow-Up of a Patient with Neonatal Severe HyperparathyroidismPublication . Padeira, G; Cavaco, BM; Virella, D; Sá-Couto, H; Lopes, MLHeterozygous inactivating pathogenic variants of the calcium-sensing receptor encoding gene cause autosomal dominant familial hypocalciuric hypercalcemia, whereas mutations that inactivate both alleles cause neonatal severe hyperparathyroidism, a rare and potentially fatal disease. We present the clinical and genetic characterization of a Portuguese family with familial hypocalciuric hypercalcemia/neonatal severe hyperparathyroidism as well as the long-term follow-up of the proband. The newborn was admitted due to progressive hypotonia, feeding refusal, and dehydration. Serum calcium and parathormone levels were markedly increased. Radiological evaluation revealed osteopenia and several fractures. Total parathyroidectomy with the reimplantation of a quarter of one gland was performed. At 15 years old, she is clinically well, has normal calcium levels, and detectable parathormone values while under calcium and α-calcidiol treatment. Calcium-sensing receptor encoding gene sequencing revealed a germline homozygous nonsense pathogenic variant later confirmed as inherited.
- Neonatal Acute Compartment Syndrome as First Manifestation of Hematologic Disease: Case ReportPublication . Sacras, ML; Ladeira, C; Carmo, S; Kjöllerström, PHemophilia A, characterized by deficiency of functional plasma clotting factor VIII, is an X-linked disorder. Signs and symptoms depend on factor VIII levels. Severe hemophilia A (factor levels less than 1%) is usually diagnosed in the first two years of life. Pediatric compartment syndrome is most associated with trauma, but infectious and vascular causes must also be considered. We report a case of a newborn who presented with a severe hand hematoma after venous puncture, complicated by compartment syndrome. An isolated prolonged partial thromboplastin time was found, and hemophilia was suspected. Factor VIII levels less than 1% were consistent with severe hemophilia A. The patient received recombinant factor VIII perioperatively. Fasciotomy was performed and the patient was kept on antibiotics until closure.
- Penile Involvement as Initial Manifestation of Henoch-Schönlein PurpuraPublication . Santos, E; Henriques, J; Ladeira, C; Alves, R
- Hepatocellular Carcinoma: An Unusual Presentation of this Rare Clinical Entity in ChildrenPublication . Martins, M; Cardosa, MF; Calhau, P; Caldas, G; Alves, RMalignant hepatic tumors are rare in children and hepatocellular carcinomas only represent 20% of cases. A previously healthy 10 year-old male was admitted for sudden abdominal pain. Ultrasound imaging showed an ileo-ileal intussusception with spontaneous resolution, but in the face of worsening pain, fever, and a palpable epigastric mass, abdominal magnetic resonance imaging was performed, showing a liver lesion. Laboratory tests presented elevated liver enzymes and C-reactive protein, so a liver abscess was considered and treated with metronidazole plus ceftriaxone. All of the microbiology tests as well as tumoral markers were negative. Despite clinical and laboratory improvement, the lesion persisted in the imaging. A liver biopsy confirmed a hepatocellular carcinoma, and the patient was submitted to surgical resection and chemotherapy. Contrarily to adults in whom most cases are secondary to chronic liver disease, children may not have risk factors for the disease, which makes it harder to make a prompt diagnosis.
- Chronic Gastric VolvulusPublication . Santos, E; Morão, S; Knoblich, M; Alves, R