RESUMEN

We describe 10 patients (6 females and 4 males) from 6 unrelated families with an autosomal recessive disease characterized by simultaneous presentation of nodulosis, arthropathy and osteolysis. They were followed up regularly at King Faisal Specialist Hospital and Research Center in Saudi Arabia for clinical evaluation, serial blood work-up, and evaluating radiological changes. Nodulosis and arthropathy were the clinical criteria for inclusion in this study, and the ten patients fulfilled these criteria. All patients had nodulosis and distal arthropathy. Eight patients (80%) presented with deformed hands and four (40%) with painful hands. All patients had parents who were first cousins and three families had more than one affected child, the finding suggesting autosomal recessive inheritance. Osteopenia and undertubulation of bones distally more than proximally, and upper limbs affected more often than lower limbs, were found in all patients. Osteolysis was seen in carpal and tarsal bones. Other common findings were sclerotic cranial sutures, brachycephaly, and broad medial clavicles. This novel phenotype should be considered in the differential diagnosis of chronic arthritis. Familial arthropathies are more often seen in communities where interfamilial marriage is common. Such a collection of patients is ideal for homozygosity mapping of the disease locus.

Asunto(s)

RESUMEN

PURPOSE: The aims of the study were: 1) to assess the efficacy of different imaging methods for use prior to treatment; 2) to compare the surgico-histopathologically-based International Neuroblastoma Staging System (INSS) staging with the imaging results; and 3) to suggest a localisation scheme for abdominal neuroblastoma. MATERIAL AND METHODS: Thirty-one children with an abdominal neuroblastoma (median age 2 years), underwent abdominal US, CT of chest and abdomen, MR imaging of abdomen and spine, chest radiography, skeletal survey, radionuclide bone scintigraphy, MIBG scintigraphy, and bone marrow biopsy. RESULTS: In the evaluation of local disease, CT and MR were superior to US. There was no significant difference between CT and MR in assessment of the location or size of the tumour. Evaluation of invasive growth and lymphadenopathy was uncertain irrespective of imaging modality. Intraspinal extension was more distinctly demonstrated with MR. Tissue characterization with CT and MR did not contribute in the assessment of the tumours. Contrast enhancement at CT and MR examinations both improved demarcation between tumour and kidney, and was a necessity for evaluation of vessel encasement with CT. The local disease was best assessed by either CT or MR, while metastatic disease was best revealed by CT, MR, scintigraphy or bone marrow biopsy. CONCLUSION: Imaging may be a valuable basis for clinical assessment and pretreatment staging of abdominal neuroblastoma.

Asunto(s)

RESUMEN

BACKGROUND: Tissue diagnosis is mandatory prior to treatment of an abdominal or pelvic lesion in a child. OBJECTIVES: To compare the diagnostic yield and complications of fine-needle aspiration biopsy (FNAB) and 1.2-mm needle core biopsy (NCB) for abdominal and pelvic lesions in children using US guidance. MATERIAL AND METHODS: Ninety consecutive abdominal or pelvic US-guided biopsies in 61 children; 53 FNAB procedures in 43 children and 37 NCB procedures in 34 children were retrospectively analysed. Fifty-seven biopsies were performed on malignant lesions and 33 on benign lesions. In 15 children, both FNAB and NCB were performed at the same occasion. RESULTS: FNAB was diagnostic in 41 (77 %) of 53 biopsies while NCB provided a correct diagnosis in 35 (95 %) of 37 biopsies. Results were similar in both malignant and benign conditions. Clinically important bleeding complicated three biopsies (3.3 %); in two after FNAB and in one after combined FNAB and NCB. CONCLUSION: If FNAB were to be replaced with 1.2-mm NCB using an automatic gun, the diagnostic yield for abdominal and pelvic focal lesions in children would improve significantly (P < 0.05) while the complication rate would remain low. NCB may reduce the need for diagnostic and staging surgery and repeated procedures.

Asunto(s)

Asunto(s)

RESUMEN

A 4-year-old boy presented with a right-sided mass. A lobulated tumour in the right flank was felt on palpation, and radiological investigation revealed a solid, multinodular intrarenal tumour. On biopsy the tumour was found to be a lymphoblastic lymphoma.

Asunto(s)

RESUMEN

Thirty-five children aged from 1 day to 16 years (median 5 years) with solid pelvic tumours were investigated with US, CT and MR. All three methods gave similar estimates of tumour size. For defining location of the tumours, the pelvis was divided into three midline compartments (anterior, middle and posterior) and a right and left lateral compartment. CT and MR were accurate and equally reliable in determining the tumour location, US was less accurate. Evaluation of confinement to organ of origin was uncertain, regardless of imaging modality. Tissue characteristics with CT and MR did not contribute to the differentiation of the various tumour types, and contrast medium enhancement did not improve the discrimination. Compartmental localization was equally well assessed by CT and MR and, together with sex, was found to correlate with the tumour type.

Asunto(s)

RESUMEN

PURPOSE: To give an overview of 503 patients with tuberculosis (TB) and to describe the radiologic findings of chest TB. MATERIAL AND METHODS: A total of 503 patients with proven TB were reviewed; 266 had chest involvement. RESULTS: Lung lesions were demonstrated in 214 patients. Infiltrates in the basal parts of the lungs or pleural effusion were often primarily mistaken for viral or bacterial infections. Consolidations within the lungs and pleural thickening were sometimes indistinguishable from malignancy. Positive culture of the sputum without lung lesions was encountered in 12 cases. Enlarged mediastinal lymph nodes were demonstrated in 67 cases, 35 without lesions in the lungs. The lymphadenopathy could be extensive, and both clinically and radiologically indistinguishable from lymphoma. CONCLUSION: Due to the present increase in incidence of TB and the fact that TB can mimic many other conditions, it is important that both clinicians and radiologists have TB high on the list for differential diagnoses.

Asunto(s)

RESUMEN

PURPOSE: To describe the radiological findings of tuberculosis (TB) of the abdomen as reflected at our hospital. MATERIAL AND METHODS: The radiological files of 503 patients (referred to our institution mainly because of a clinical suspicion of malignancy, and found to have culture- or biopsy-proven TB) were reviewed in order to analyze the spectrum of the TB manifestations in this group of patients. RESULTS: Abdominal manifestations were found in 112 patients, in 1/3 abdominal disease was the only evidence of TB. More than half of the patients also had chest TB. The most common abdominal TB manifestations were peritonitis and lymph node enlargement, each occurring in about 1/3 of the patients. Also 1/3 had genitourinary TB manifestations. About 1/5 had TB of the liver, spleen or pancreas or in the gastrointestinal tract, respectively. Multiple organ involvement was common. CONCLUSION: The need to consider TB in the differential diagnosis in patients with obscure abdominal symptoms, especially with multiple organ involvement, is stressed.

Asunto(s)

RESUMEN

PURPOSE: To show that intracranial tuberculosis (TB) often masquerades as brain tumour. MATERIAL AND METHODS: Forty-six patients with intracranial TB, who after CT at the local hospital were referred for surgery or radiotherapy of brain tumour, are presented. Sometimes the correct diagnosis was first established during surgery for brain tumour. RESULTS: The differentiation between TB and gliomas, meningiomas, metastases, or lymphomas may be impossible from the clinical history and CT findings. Angiography, done in 25 of our cases, often helped by not showing the expected tumour vasculature. MR, performed in 9 patients, helped by demonstrating a layered capsule on T2-weighted images in 4 of the lesions (hypointense rim outside hyperintense rim); the centres of the lesions were of decreased, usually very mixed T2 signal intensity. CONCLUSION: Even in patients with findings typical of brain tumour, TB remains an important differential diagnosis.

Asunto(s)

RESUMEN

PURPOSE: To describe the radiologic findings in patients with spinal tuberculosis (TB). MATERIAL AND METHODS: Out of a total of 503 patients with TB, 63 (13%) had involvement of the spine. RESULTS: In 40 patients, the spine was the only location; 20 patients had concomitant chest TB. Conventional radiographs gave a good overview, CT visualized the disko-vertebral lesions and the paravertebral abscesses, while MR imaging was useful to determine the spread of disease to the soft tissues and the spinal canal. The typical findings were destroyed vertebrae with associated paraspinal soft-tissue mass, with or without abscess formation, sometimes also involving the epidural space together with adjoining disk lesion and focal gibbus formation. Involvement of a single vertebra was a relatively common finding. Large psoas abscesses could occur without any signs of bone involvement. The TB process could sometimes be indistinguishable from malignant processes, and in 3 patients, with multiple lesions in the spine, it mimicked metastatic disease. CONCLUSION: It is stressed that TB should always be considered in the differential diagnosis when radiologic findings suggest spinal infections or primary or secondary spinal tumors.

Asunto(s)

RESUMEN

PURPOSE: To assess frequency, location, and appearance of peripheral osteoarticular and soft-tissue tuberculosis (TB). MATERIAL AND METHODS: Twenty-five of 503 patients with TB had peripheral osteoarticular TB and 5 had soft-tissue TB. Chest radiography, CT, and MR imaging were applied. RESULTS: The location of the osteoarticular lesion was articular/epiphyseal in 14 patients, articular/metaphyseal in 3, and metaphyseal without joint involvement in 3. Involvement of flat bone was found in 4 patients (5 lesions). The morphologic appearance was similar to that of a lytic tumour in 9 patients (10 lesions) and that of a destructive joint lesion in 16 patients. The soft-tissue TB in all 5 patients presented as an abscess. Twelve patients had a total of 20 additional sites of involvement: chest in 9, abdomen in 4, spine in 4, the neck in 3, and the central nervous system in one patient. CONCLUSION: On the basis of radiologic appearance, it can be difficult to differentiate peripheral osteoarticular and soft-tissue TB from other degenerative, inflammatory, or neoplastic disorders, and the importance of a high awareness is stressed in order to reach an early diagnosis.

Asunto(s)

RESUMEN

Eighteen children aged 6 months to 12 years with 20 solid renal tumours: 13 Wilms' tumours (WT), 2 clear cell sarcomas of the kidney, 1 malignant rhabdoid tumour of the kidney and 2 cases of bilateral nephroblastomatosis with Wilms' tumour underwent evaluation with US, CT and MR imaging. Contrast-enhanced CT and non-enhanced MR were equally accurate in determining the size and origin of the tumour but were unreliable in separation of stages I, II and III. US could only accurately assess the size of the tumours. MR characteristics varied somewhat between WTs and non-WTs but contrast-enhanced MR imaging might be useful for separation of WTs from nephroblastomatosis.

Asunto(s)

RESUMEN

A case of hypertrophic osteoarthropathy in a 5-year-old Saudi boy is presented. The child developed painful joints, was found to have clubbing of fingers and radiologically hypertrophic osteoarthropathy was demonstrated. The underlying cause of the condition was ingestion of animal fat in infancy, with a history of ghee oil aspiration which caused a chronic lung inflammation, lipoid pneumonia, proven by lung biopsy.

Asunto(s)

RESUMEN

Two cases of congenital bilobar emphysema are presented, both of which caused neonatal respiratory embarrassment. Plain radiography and lung scintigraphy revealed bilobar involvement in one child prior to surgery, while the bilobar involvement in the other child was found during a follow-up study.

Asunto(s)

RESUMEN

Three Saudi children (two female, one male) are described who presented with familial arthropathy associated with congenital camptodactyly. This rare but recognized clinical entity has a variable clinical presentation and may be associated with pericarditis and coxa vara. Camptodactyly was observed in the neonatal period in all patients, while joint swelling was observed between the third and 11th month. Pericarditis was suspected in the referral hospital in one patient but was not subsequently confirmed at our institution, raising the possibility that pericarditis may be reversible. Radiological examination of the hips showed coxa vara with short femoral neck in all patients. Synovial biopsy in the three patients revealed proliferating synovial epithelium with moderate fibrocollagenous densities and multinucleated giant cells, occasional lymphocytes or neutrophils but no plasma cells were identified. This is the first series of this familial arthropathy with a triad of camptodactyly, arthropathy and coxa vara (CAC syndrome) in Saudi Arabia which is to be considered in patients where more than one family member has juvenile arthritis.

RESUMEN

Eight children aged 6 to 17 years (mean 13.3 years) were examined using conventional radiography, radionuclide bone scintigraphy, CT and MR imaging for pre-treatment assessment of extensive primary pelvic bone tumours. The tumours evaluated were Ewing's sarcoma (n = 4), osteogenic sarcoma (n = 3), and chondrosarcoma (n = 1). Each imaging modality made a contribution to the evaluation of the primary tumour. Conventional radiography and bone scintigraphy were necessary for the initial diagnosis, with CT playing a complementary role. MR imaging and/or dynamic contrast-enhanced CT were mandatory prior to surgical resection.

Asunto(s)

RESUMEN

A 28-year old primigravida with massive bilateral theca-lutein cysts associated with a non-molar pregnancy is reported. The pregnancy resulted in a spontaneous premature vaginal birth of a 27-week gestation female infant, with no placental pathology or congenital anomalies. During the same pregnancy and post partum period the patient manifested an associated synchronous endocrinopathy of severe hypothyroidism and virilization. The cysts, except for one 2.5 cm in size still present, completely resolved with non-surgical approach during the 10 months period following delivery.

Asunto(s)

RESUMEN

The association of congenital camptodactyly, familial arthropathy and coxa vara is a rare but recognized clinical entity. The radiological manifestations were reviewed in five patients. In the hips, coxa vara, short broad femoral necks and intraosseous cysts were demonstrated in all patients. Abnormal modeling of the acetabulum, increased joint space, effusion, small iliac wings and intraosseous herniation of fluid were found in four out of five patients. Somewhat flat, slightly irregular femoral heads were seen in three patients. In the knees, effusion was demonstrated in all five patients and thick cartilage in three. The elbow, wrist and ankle joints showed abnormal modeling with evidence or suspicion of intraarticular fluid in the majority of patients. Flexion deformities of the fingers were seen in all patients.

Asunto(s)

RESUMEN

An 18-month-old female child presented with fever and an abdominal mass, which, after ultrasonography, computed tomography, and magnetic resonance imaging was considered to be an atypical cystic renal neoplasm. Nephrectomy was performed. Histopathological examination demonstrated the mass to be focal xanthogranulomatous pyelonephritis. This lesion should be considered in the differential diagnosis of renal neoplasms in childhood, particularly cystic Wilms' tumor or Wilms' tumor with significant intratumoral hemorrhage.

Asunto(s)