Idiopathic infantile arterial calcification: imaging evaluation and the usefulness of MR angiography

Idiopathic infantile arterial calcification (IIAC) is a rare condition characterized by extensive calcification and stenosis of large and medium-size arteries. The etiology of the disease is unknown. However, the inheritance pattern has been shown to be autosomal recessive. The clinical presentation is variable, including cardiac failure (most common clinical finding), hypertension, and respiratory failure. Plain radiography, sonography and MRI can aid in the diagnosis. We present a case in which contrast-enhanced MR angiography with breath-hold and cardiac gating techniques allowed complete evaluation of the extent of this disease.     

Retractile mesenteritis in a 12-year-old girl: CT findings

We report a pathologically proven case of retractile mesenteritis in a 12-year-old girl. Computed tomography (CT) demonstrated a large mass of fat density completely circumscribing the colon. Although the definitive diagnosis of retractile mesenteritis depends on histopathological findings, recognition of CT features is helpful in the diagnosis. Received: 13 October 1995 Accepted: 10 January 1996     

Idiopathic infantile arterial calcification: a case report and review of the literature

Idiopathic infantile arterial calcification (IIAC) was diagnosed radiologically in an infant with sudden onset of heart failure. The clinical picture, radiological, laboratory and postmorten findings, are described in detail. There was no family history and a metabolic abnormality could not be detected.Calcifications of major arteries and particularly ligaments are pathognomonic radiologic signs of this condition but diagnosis of IIAC during life has been established only rarely. The value of early diagnosis is emphasised.     

Idiopathic infantile arterial calcification: clinical presentation, therapy and long-term follow-up

Idiopathic infantile arterial calcification (IIAC) is a rare disease characterised by extensive depositions of hydroxyapatite in the internal elastic lamina of medium-sized and large arteries, frequently accompanied by periarticular calcifications. We report on three patients with various presenting signs and symptoms. Diagnostic imaging techniques and therapy with bisphosphonates will be discussed. For the first time long-term follow-up of up to 25 years will be reported.     

Massive low-grade fibromyxoid sarcoma presenting as acute respiratory distress in a 12-year-old girl

Low-grade fibromyxoid sarcoma (LGFMS) is a rare soft-tissue sarcoma that usually presents in young adults as a painless, slow-growing mass. Evans first described LGFMS in 1987 as a spindle-cell sarcoma with bland histological features and paradoxically aggressive behavior. Although young adults are most frequently affected, recent reports describe pediatric cases being increasingly more common. Males and females are affected approximately equally and common locations include the deep soft tissue of the lower extremity, particularly the thigh and trunk. Primary occurrence within the chest cavity is exceedingly rare. Local recurrence and metastasis are not uncommon and present the clinician and radiologist with challenges regarding follow-up recommendations. Review of the literature reveals many cases of slowly progressive symptoms related to a mass effect. We present a healthy 12-year-old African-American girl who interestingly developed acute symptoms of shortness of breath and chest pain while playing with her brother.     

Idiopathic infantile arterial calcification in siblings: radiologic diagnosis and successful treatment.

Idiopathic infantile arterial calcification is a disorder of unknown etiology manifested by widespread arterial calcification. This usually leads to early death from coronary artery occlusion. In 12 of the 75 cases in the literature, radiographs were taken and it was possible to make the diagnosis in them all. We present two patients, siblings, in whom the diagnosis was established radiologically. The nature of the calcium deposits was studied in one of the infants and proved to be calcium hydroxyapatite. Therapy with diphosphonate was apparently successful in the other child.     

Idiopathic infantile arterial calcification: Roentgen diagnosis of a rare cause of coronary artery occlusion

Infantile arterial calcification is a rare disorder of unknown etiology which is usually generalized and leads to death from coronary artery occlusion. The involved arteries show calcification of the internal elastic lamina and marked intimal proliferation. Vascular calcifications were demonstrated radiographically in 9 previously recorded cases. Three new patients are reported who presented with congestive heart failure. The visualization of faint vascular calcifications in the extra-thoracic soft tissues presented an opportunity to establish the diagnosis radiologically.Presented at the Annual Meeting of the Society for Pediatric Radiology, Washington, D. C. — October 1972.     

Gastric adenocarcinoma presenting as thrombotic microangiopathy in a 14-year-old girl

Gastric adenocarcinoma is rare in childhood and often presents with disseminated malignancy at diagnosis due to aspecific symptoms leading to delay in diagnosis. A familial predisposition for gastrointestinal cancer is suggested for the development of this early-onset adenocarcinoma. We report the case of a 14-year-old girl with a familial history of colorectal, liver, and breast cancers affected by metastatic gastric adenocarcinoma, who first presented with thrombotic microangiopathy. Thrombotic microangiopathy as first clinical presentation of metastatic gastric cancer is an exceptional event in childhood and represents a challenge for pediatricians. Gastric adenocarcinoma should be suspected in young patients with a significant familial history and also in the absence of initial specific signs, so as to provide correct diagnosis and appropriate treatment.     

Celiac disease presenting as chronic hepatitis in a girl

A case of celiac disease presenting as an asymptomatic chronic persistent hepatitis in an 11-year-old girl is reported. Liver biopsy performed because of long-standing elevation of serum transaminase levels showed a mild portal fibrosis with mononuclear infiltrate. Immunofluorescence staining did not reveal deposits of immunoglobulins or complement in the liver specimen. Although the girl was totally asymptomatic, she had steatorrhea, a delayed bone age, and an abnormal D-xylose test. A jejunal biopsy showed villous atrophy and increased intraepithelial lymphocytes. On a gluten-free diet the level of transaminases fell to normal within 1 month and remained normal. According to biological remission, a second intestinal biopsy performed after 1 year of gluten-free diet revealed a normal intestinal mucosa. Our report suggests that an underlying chronic intestinal disorder, and particularly celiac disease, must be ruled out when evaluating a child with elevated levels of serum transaminase.     

Cranial fasciitis presenting as an intracranial mass in a 10-year-old girl

Cranial fasciitis is a mass-forming lesion of myofibroblastic proliferation of the skull and overlying soft tissue and occurs most frequently in pediatric patients. Cranial fasciitis has the same histological features as nodular fasciitis, which appears in the subcutaneous tissue in other parts of the body. Cranial fasciitis can involve the outer table of the skull, and it occasionally extends through the skull to form a mass involving both soft tissue and the epidural space. Intracranial cranial fasciitis without a soft tissue mass is extremely rare. Here, we report a case of a 10-year-old girl who presented with a massive intracranial mass that caused midline shift of the brain. The lesion showed focal areas of osseous metaplasia and a cytogenic abnormality of t(17;18)(q25∶q12.2) that have not yet been reported.     

Hydroxyapatite deposition disease presenting as calcific periarthritis in a 14-year-old girl

We report a case of hydroxyapatite deposition disease presenting as acute periarthritis in a 14-year-old girl with typical radiological features and clinical course. We also review the clinical and laboratory features to increase awareness of this entity.     

Idiopathic arterial calcification of infancy: sonographic and magnetic resonance findings with pathologic correlation

Idiopathic arterial calcification of infancy is a rare condition characterized by extensive arterial calcification and stenoses of large and medium sized arteries. We report the sonographic and magnetic resonance angiographic findings of this entity and correlate them with the findings at autopsy. Received: 20 October 1997 Accepted: 21 November 1997     

Hyperostotic meningioma presenting as an asymptomatic forehead bulge in a 7-year-old girl

The case of an asymptomatic 7-year-old girl with a hard bulge in the left forehead is presented. The radiological evaluation disclosed a hyperostotic mass with a large intracranial extension. A surgical specimen revealed a meningioma. The presence of a localized cranial bulge as the only sign of an intracranial tumor and the diagnostic value of computerized tomography (CT) are discussed.Abbreviation CT computerized tomography     

Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation

Idiopathic infantile arterial calcification (IIAC) is a rare, but important, cause of rapidly progressive ischemic heart disease in children. In this paper, we report two recent cases of IIAC seen at tertiary referral hospitals. Both cases presented in infancy with signs of heart failure and, ultimately, died with the diagnosis of IIAC confirmed at postmortem examination. A thorough review of the literature reveals approximately 160 reported cases of IIAC. The clinical outcomes, radiographic findings and pathologic details are summarized. Proposed etiologic mechanisms are reviewed, including promising research into the role of inorganic pyrophosphate as a regulatory factor in the development of IIAC. Because of the typically fatal outcome of IIAC and the lack of proven therapies, the potential role for cardiac transplantation is discussed.