RESUMO
BACKGROUND Neurofibromatosis 1 is a neurocutaneous disorder with multisystemic manifestations. When patients are lacking overt cutaneous manifestations, diagnosis may be delayed and may complicate diagnosis and management of atypical presentations of this disease. It is thus important to strive to obtain relevant and/or complete history to arrive at the appropriate diagnosis. Furthermore, maintaining an index of suspicion in cases of vague abdominal pain may guide the clinician in establishing the correct diagnosis of mesenteric plexiform neurofibroma in the setting of known/presumed neurofibromatosis 1 patients presenting with acute and/or chronic vague abdominal symptoms. CASE REPORT This is a case of a teenage boy who presented with acute, vague abdominal pain over a period of 2 weeks. Laboratory tests and physical exam findings in primary and secondary care settings were unremarkable, and thus the patient was discharged home only to continue with abdominal pain, thus seeking additional medical care. After admission to our facility and exhaustive history taking, physical examination, and imaging, a prospective diagnosis of neurofibromatosis with mesenteric neurofibroma was made. Upon surgical exploration, a mesenteric mass with corresponding volvulized, ischemic small bowel was removed. Histopathology confirmed a plexiform neurofibroma. The patient recovered adequately and was discharged home without complications. CONCLUSIONS This case highlights the importance of exhaustive history taking to obtain an accurate diagnosis as well as the importance of a high index of clinical suspicion for mesenteric neurofibromatosis in patients with presumed or known neurofibromatosis and presenting with vague abdominal symptoms.
Assuntos
Volvo Intestinal , Neurofibroma Plexiforme , Neurofibromatoses , Neurofibromatose 1 , Doenças Vasculares , Masculino , Adolescente , Humanos , Criança , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Neurofibroma Plexiforme/diagnóstico , Neurofibroma Plexiforme/patologia , Neurofibroma Plexiforme/cirurgia , Volvo Intestinal/diagnóstico , Volvo Intestinal/cirurgia , Volvo Intestinal/complicações , Estudos Prospectivos , Neurofibromatoses/complicações , Dor Abdominal/etiologiaRESUMO
We discuss a 16-year-old male patient who presented with three episodes of recurrent pancreatitis within the last 6 months. Preoperative imaging studies suggested a choledochal cyst within the second portion of the duodenum. Patient was taken to surgery and the lesion was removed. Pathology examination of the cyst revealed a duodenal duplication. The accessory pancreatic papilla entering the closed duplication cyst was the main cause of the pancreatitis in this child.
Assuntos
Ampola Hepatopancreática/anormalidades , Duodeno/anormalidades , Pancreatite/etiologia , Humanos , RecidivaRESUMO
Infection-associated hemophagocytic syndrome is a rare, potentially fatal complication of systemic infection. It occurs most often in immunocompromised patients associated with a viral infection but the spectrum of conditions have been broadened to include virtually every type of infectious pathogen, malignancy and immunosuppressive therapy. We present three pediatric patients with a similar clinical history of pancytopenia, hepatosplenomegaly, and acute liver failure, and discuss the autopsy findings.
Assuntos
Infecções/complicações , Linfo-Histiocitose Hemofagocítica , Autopsia , Biópsia , Medula Óssea/patologia , Estado Terminal , Feminino , Humanos , Lactente , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/etiologia , Linfo-Histiocitose Hemofagocítica/mortalidade , Linfo-Histiocitose Hemofagocítica/patologia , Masculino , Baço/patologia , Síndrome , Fatores de TempoRESUMO
We present the case of an eighteen day old baby boy hospitalized with an abdominal mass, renal insufficiency and jaundice. Multiple radiographic, radionuclear and surgical interventions were required to diagnose renohepaticopancreatic dysplasia, also known as Ivemark II syndrome. In spite of aggressive intensive care support, the patient developed multisystemic organ failure and died. Clinical presentation and autopsy findings are presented.
Assuntos
Injúria Renal Aguda/complicações , Falência Hepática/complicações , Cisto Pancreático/complicações , Injúria Renal Aguda/etiologia , Injúria Renal Aguda/patologia , Autopsia , Diagnóstico Diferencial , Evolução Fatal , Fibrose/patologia , Humanos , Recém-Nascido , Icterícia/etiologia , Icterícia/patologia , Rim/patologia , Fígado/patologia , Falência Hepática/etiologia , Falência Hepática/patologia , Masculino , Insuficiência de Múltiplos Órgãos/etiologia , Insuficiência de Múltiplos Órgãos/patologia , Pâncreas/patologia , Cisto Pancreático/patologia , SíndromeRESUMO
Jarcho-Levin syndrome, also known as spondylothoracic dysplasia and characterized by short trunk dwarfism, "crab-like" rib cage, with ribs and vertebral defects; it is not uncommon in Puerto Ricans. Many patients die in early infancy due to respiratory compromise associated to lung restriction and the reported cases emphasize mostly the skeletal malformations associated to the syndrome. We report the autopsy findings in a newborn with isolated Jarcho-Levin syndrome emphasizing pulmonary pathology. He was a pre-term male who died of respiratory failure at three hours old and, autopsy findings confirmed the clinical diagnosis. Internal examination showed hypoplastic lungs with normal lobation. The histological structure appeared normal and relatively mature; the diaphragm showed eventration and unilateral absence of musculature. This case shows the worst spectum of the Jarcho-Levin syndrome: pulmonary hypoplasia not compatible with extrauterine life. Since thoracic restriction is present during the fetal period, the degree of pulmonary hypoplasia probably defines survival beyond the neonatal period.
Assuntos
Anormalidades Múltiplas/patologia , Nanismo/patologia , Pulmão/anormalidades , Costelas/anormalidades , Coluna Vertebral/anormalidades , Índice de Apgar , Autopsia , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Radiografia Torácica , SíndromeRESUMO
We present the case of a 9 year old girl with history of progressive pneumatoceles and infection since she was 3 years old. A chest computerized tomography revealed a cystic lung mass. The patient was taken to surgery and a left lower lobe lobectomy was performed. The pathologic diagnosis was that of a congenital cystic adenomatoid malformation. We discuss the clinical presentation, and pathology of this entity with a brief review of the literature.
Assuntos
Malformação Adenomatoide Cística Congênita do Pulmão/diagnóstico por imagem , Malformação Adenomatoide Cística Congênita do Pulmão/patologia , Criança , Malformação Adenomatoide Cística Congênita do Pulmão/cirurgia , Feminino , Humanos , Pneumonectomia , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
This is the case of an 11-year-old girl who presented with a right adnexal mass and vague abdominal symptoms since seven months prior to her hospital admission for surgery. CT-scan and sonographic images were those of a benign lesion, probably ovarian torsion or infarction. Serum tumoral markers were normal. A right salpingo-oophorectomy and appendectomy were performed. Pathology examination revealed a cavernous hemangioma of the ovary. The clinicopathologic presentation of this unusual benign ovarian tumor is discussed.
Assuntos
Dor Abdominal/etiologia , Hemangioma Cavernoso/diagnóstico , Neoplasias Ovarianas/diagnóstico , Apendicectomia , Apendicite/diagnóstico , Criança , Diagnóstico Diferencial , Tubas Uterinas/patologia , Tubas Uterinas/cirurgia , Feminino , Hemangioma Cavernoso/complicações , Hemangioma Cavernoso/cirurgia , Hematúria/etiologia , Hemorragia/etiologia , Hemorragia/patologia , Humanos , Doenças Ovarianas/diagnóstico , Neoplasias Ovarianas/complicações , Neoplasias Ovarianas/cirurgia , Ovariectomia , Anormalidade Torcional/diagnósticoRESUMO
Pulmonary sequestration is a rare developmental anomaly of the lung characterized by nonfunctional pulmonary tissue without communication with the tracheobronchial tree and receiving an aberrant systemic arterial blood supply. Few cases of non-immune hydrops fetalis associated with this entity have been reported. A 2 day old male baby born by cesarean section at 31 weeks gestational age due to fetal hydrops is presented. Autopsy revealed a hydropic baby with extralobar pulmonary sequestration and bilateral pulmonary hypoplasia. The clinicopathologic presentation of this unusual pulmonary developmental anomaly is discussed.
Assuntos
Sequestro Broncopulmonar/complicações , Hidropisia Fetal/etiologia , Pulmão/anormalidades , Sequestro Broncopulmonar/terapia , Evolução Fatal , Humanos , Hidropisia Fetal/terapia , Recém-Nascido , Pulmão/patologia , MasculinoRESUMO
Cerebral hemiatrophy is a rarely occurring condition of different etiologies that can be regarded as the final stage of a number of different disease processes. It is characterized by a marked asymmetry of the cerebral hemispheres. A 12 year old girl with history of epilepsy since infancy and psychomotor delay presented in status epilepticus, developed marked cerebral edema, bilateral uncal herniation and bilateral infarcts of the posterior cerebral artery territories. Autopsy findings revealed left cerebral hemiatrophy as an incidental findings. The clinicopathologic features and classification of this entity are discussed.
Assuntos
Atrofia/complicações , Dano Encefálico Crônico/complicações , Encéfalo/patologia , Epilepsia/complicações , Atrofia/patologia , Autopsia , Dano Encefálico Crônico/patologia , Criança , Epilepsia/patologia , Evolução Fatal , Feminino , HumanosRESUMO
Rhabdoid tumors of the brain are rare with an invariable dismal prognosis despite treatment. This is the case of a 3 year old boy who presented lethargy, somnolence, nausea, vomiting, and headaches one week prior to hospitalization. A posterior fossa tumor with hydrocephalus was noted on a head computed tomography (CT) scan. A ventriculoperitoneal shunt was placed with subsequent gross total tumor resection. Pathology findings were those of a rhabdoid tumor. The histopathology, immunohistochemistry and ultrastructure of this unusual pediatric cerebral neoplasia is discussed.
Assuntos
Neoplasias Encefálicas/patologia , Tumor Rabdoide/patologia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/terapia , Pré-Escolar , Humanos , Imuno-Histoquímica , Masculino , Procedimentos Neurocirúrgicos/métodos , Tumor Rabdoide/diagnóstico por imagem , Tumor Rabdoide/terapia , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
Craniofacial duplication (diprosopus) is a rare form of conjoined twins. A case of monocephalus diprosopus with anencephaly, cervicothoracolumbar rachischisis, and duplication of the respiratory tract and upper gastrointestinal tract is reported. The cardiovascular system remained single but the heart showed transposition of the great vessels. We present this case due to its rarity, and compare our pathologic findings with those already reported.
Assuntos
Anormalidades Múltiplas/patologia , Anormalidades Craniofaciais , Gêmeos Unidos/patologia , Adulto , Anencefalia/patologia , Anormalidades do Sistema Digestório , Face/anormalidades , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Masculino , Defeitos do Tubo Neural/patologia , Poli-Hidrâmnios/patologia , Gravidez , Anormalidades do Sistema Respiratório , Disrafismo Espinal/patologiaRESUMO
Craniofacial duplication (diprosopus) is a rare form of conjoined twins. A case of monocephalus diprosopus with anencephaly, cervicothoracolumbar rachischisis, and duplication of the respiratory tract and upper gastrointestinal tract is reported. The cardiovascular system remained single but the heart showed transposition of the great vessels. We present this case due to its rarity, and compare our pathologic findings with those already reported.
Assuntos
Adulto , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Anormalidades Múltiplas/patologia , Anormalidades Craniofaciais , Gêmeos Unidos/patologia , Anencefalia , Sistema Digestório , Face , Evolução Fatal , Defeitos do Tubo Neural , Poli-Hidrâmnios , Anormalidades do Sistema Respiratório , Disrafismo EspinalRESUMO
The clinicopathological features and immunohistochemistry profile of desmoplastic cerebral astrocytoma of infancy are discussed in a 4 month old male infant who presented with an increasing head circumference more pronounced in the last two weeks prior to admission to the University Pediatric Hospital. This is a rare tumor that occurs in infants within the first two years of life and it is characterized by a massive, often cystic, supratentorial lesion usually in the frontoparietal region. It has a biphasic histologic pattern with an astrocytic and desmoplastic component and a good prognosis after total or near total surgical resection. This patient represents the first case of desmoplastic cerebral astrocytoma of infancy diagnosed in the Puerto Rico Medical Center.