Splenic lymphangiomatosis in children.

PURPOSE: To study the clinical and imaging features of splenic lymphangiomatosis. MATERIALS AND METHODS: The clinical and abdominal imaging data of 10 children with splenic lymphangiomatosis were retrospectively reviewed. The modalities used in the study included computed tomography (CT) (10 patients), sonography (five patients), and magnetic resonance (MR) imaging (two patients). Pathologic confirmation of lymphangiomatosis was obtained in nine patients. RESULTS: Splenic lymphangiomatosis was discovered incidentally in all cases and was a key finding in enabling the correct diagnosis in six children with extrasplenic disease as well. Only two children had clinical splenomegaly. Sonograms and MR images showed multiple, wEll-defined cysts. Multiple, low-attenuation lesions that did not enhance with intravenous administration of contrast material (n = 8) or a mottled spleen (n = 2) were seen at CT. One of the mottled spleens had target lesions on an early (arterial) image obtained after administration of a bolus of contrast material. One child underwent a splenectomy; one child underwent therapeutic embolization. Eight patients remained asymptomatic with respect to the spleen 1-20 years later. CONCLUSION: Splenic lymphangiomatosis is often an incidental imaging finding that frequently has a characteristic imaging appearance. The recognition of this appearance helps in diagnosis of this disease and may prevent the need for further invasive procedures. Splenic changes can be isolated or can coexist with bone or soft-tissue lymphangiomas.

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

We describe a father and 3 sons with optic nerve colobomas, vesicoureteral reflux, and renal anomalies. The youngest son had congenital renal failure and ultimately underwent renal transplantation. The father and one son had high frequency hearing loss. There were no other affected relatives. We conclude that the association of optic nerve colobomas, renal anomalies, and vesicoureteral reflux comprises a unique autosomal dominant syndrome. Molecular investigations have determined this disorder to be associated with a single nucleotide deletion in the PAX2 gene.

Cystic fibrosis-associated colitis and fibrosing colonopathy.

OBJECTIVE: To describe our experience with cystic fibrosis (CF)-associated colitis and fibrosing colonopathy, and to assess treatment strategies. STUDY DESIGN: We reviewed hospital charts and autopsy reports of all University of Minnesota patients with CF between 1975 and August 1994. We identified six patients with colonopathy and compared them with a cohort of 79 patients with CF in the same age range and seen during the same period. RESULTS: All patients with colonopathy had bloody diarrhea; five of the six had abdominal pain. Stool frequency and related symptoms distinguished the patients with colonopathy from the cohort population. All took a higher median dose of pancreatic enzymes than the cohort population during the 3 months preceding the onset of symptoms (p < 0.002). For all six patients, barium studies revealed loss of haustration, and shortening and diffuse narrowing of the colonic lumen with relative rectal sparing. The distal ileal mucosa was irregular in four patients. A histopathologic study reveal fibrosis of the submucosa or lamina propria, and focal acute cryptitis in all six patients. Other features included ascites (2/6) and nodular regenerative hyperplasia of the liver (1/6). One patient continues to have symptoms, three had subtotal colectomy, and the condition of two improved after a regimen including a low-fat diet, withholding of pancreatic enzymes, and supplemental parenteral nutrition was initiated. CONCLUSIONS: Fibrosing colonopathy represents a newly recognized gastrointestinal complication of cystic fibrosis. Affected persons have taken larger doses of pancreatic enzymes than similar patients with cystic fibrosis, and have bloody diarrhea. We developed a medical protocol that may avoid surgical resection of the colon in some of these patients.

Abdominal complications in pediatric bone marrow transplant recipients.

Abdominal problems and catastrophes often complicate the clinical course after bone marrow transplantation (BMT) in children. These complications can be grouped into categories of infection, chemotherapy and radiation toxicity, graft-versus-host disease (GVHD), recurrent or de novo malignancy, and miscellaneous complications and can involve the hepatobiliary system, pancreas, spleen, gastrointestinal tract, and urinary tract. Infection is common after BMT: the causative organism depends on the changing immunologic state of the recipient and even on environmental factors such as recent construction, humidity, and antibiotic use. Chemotherapy and radiation therapy can cause hepatic veno-occlusive disease, pancreatitis, nephritis, and hemorrhagic cystitis. GVHD is a process in which donor lymphoid cells produce damage to recipient target organs, especially skin, liver, and intestinal mucosa. Recurrent or de novo disease or malignancies, particularly B-cell lymphomas, may develop in chronically immunocompromised children. Other problems include stone disease, splenic and renal infarction, and complications of hyperalimentation therapy. Abdominal imaging, including plain radiography, contrast material-enhanced studies of the bowel, real-time and duplex sonography, and computed tomography, is essential in diagnosing these problems and evaluating response to therapy.

Children with mucopolysaccharidosis: perioperative care, morbidity, mortality, and new findings.

The perioperative care, morbidity, and mortality in 30 patients with mucopolysaccharidosis (MPS) are presented. They underwent a detailed preoperative assessment and were anesthetized 141 times. An intravenous induction technique was used in most patients. It was easier to see the vocal cords, during laryngoscopy, in children with Hurler syndrome (HS) when they were younger (23 v 41 months, P < or = .01) and smaller (12 v 15 kg, P < or = .05). Preoperative obstructive breathing was associated with a significantly higher incidence of postextubation obstruction (P < or = .05). A total of 28 children underwent bone marrow transplantation (BMT); this reversed upper airway obstruction and also reversed intracranial hypertension. In children with HS, the incidence of odontoid dysplasia was 94%; 38% demonstrated anterior C1-C2 subluxation. Head and neck manipulation was limited in children with cervical spine defects. None of the 30 patients experienced spinal cord morbidity. One child suffered an intraoperative stroke; another, pulmonary edema. Severe and extensive coronary obstruction was responsible for 2 intraoperative deaths. Coronary angiography underestimated coronary artery disease.

Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features.

Further delineation of a generalized bone dysplasia which we call spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type is presented. This dwarfing condition has several serious complications, with the most common cause of death being spinal cord damage secondary to atlantoaxial instability. It is a heritable condition with an autosomal recessive mode of transmission. Radiologic diagnostic criteria are developed on the basis of studies in 8 patients with the oldest being between 4 and 5 years old. The condition is clinically and radiographically apparent neonatally or in early infancy, and it is probable that all or almost all affected individuals will come to medical attention in the age range screened by this study.

Imaging of the kidney, liver, and pancreas transplant.

Imaging of the renal, hepatic, and pancreas allograft is essential for evaluation of postoperative complications. Surgical complications after organ transplantation can generally be specifically diagnosed. These complications include obstruction, leakage, peritransplant fluid collections, and vascular problems such as vascular stenosis or thrombosis, arteriovenous fistula, and pseudoaneurysm. Using computed tomography (CT) or ultrasound guidance, interventional procedures can often be performed to treat various surgical complications. On the other hand, medical causes of allograft transplant dysfunction such as rejection, acute tubular necrosis, drug toxicity, ischemia, infection, inflammation, or the development of recurrent disease are frequently associated with nonspecific imaging findings. Allograft biopsy is still usually necessary for definitive diagnosis in these cases. In this article, we will briefly outline the spectrum of abnormalities that can be seen in the allograft recipient and show some examples of these complications.

Shifting pneumothorax after heart-lung transplantation.

Heart-lung transplantation involves the total replacement of two of the most complex organs of the thoracic cavity. This procedure is usually reserved for patients with failure of both systems, such as in primary pulmonary hypertension or chronic Eisenmenger physiology. The en bloc replacement of the heart and lungs leaves an open communication between the two sides of the thorax that may allow air or fluid to shift from one side to the other. To evaluate this possibility, the authors reviewed the chest radiographs of 25 heart-lung transplant recipients for signs of rapidly changing pneumothoraces that could not be explained by the conventional dynamics of pleural physiology. A series of postoperative radiographs showed unusual shifting or apparently rapid disappearance of pneumothoraces in eight patients. Decompression of a pneumothorax with a contralateral chest tube was a phenomenon observed in six of these patients.

Hemorrhagic colitis and pseudomelanosis coli in ipecac ingestion by proxy.

This report describes a toddler with chronic diarrhea, vomiting, and hypotonia due to surreptitious administration of syrup of ipecac by his mother (Munchausen's syndrome by proxy). Several features of this case distinguish it from previous reports of chronic ipecac ingestion in childhood: the development of grossly bloody stools; radiologic, endoscopic, and biopsy evidence of a chronic moderate colitis resembling ulcerative colitis; and the histologic finding of pseudomelanosis coli, providing an important clue to toxic ingestion. The significance and possible mechanism for genesis of pseudomelanosis coli is discussed. This case emphasizes the variability in presentation and difficulty in diagnosing long-term ipecac ingestion by proxy. Ipecac toxicity should be considered in children with unexplained colitis and vomiting.

Radiologic imaging of inflicted injury in the child abuse syndrome.

Injuries associated with child abuse may involve any anatomic focus and organ system. Although many if not most of the injuries associated with physical abuse cannot serve as definitive evidence of maltreatment, awareness of patterns of injuries in abused infants and children initially may serve to identify potential victims of abuse and stimulate more thorough clinical and radiologic investigation. It is essential that less familiar intracranial and abdominal injuries be thoroughly evaluated for possible abuse when circumstances suggest maltreatment, or no plausible explanation is given for radiologic findings.