Eosinophilic granuloma simulating an aggressive rib neoplasm: CT evaluation

Eosinophilic granuloma of bone can pose difficulties in diagnosis. We report a case of eosinophilic granuloma of rib origin in a child presenting with an enlarging chest mass whose appearance on computed tomography suggested Ewing sarcoma. Eosinophilic granuloma should be included in the differential diagnosis of an aggressive rib mass on CT in the pediatric patient.     

Recurrent neuroendocrine (merkel cell) carcinoma of the skin presenting as marrow failure in a man with systemic lupus erythematosus

Neuroendocrine carcinoma of the skin, Merkel cell carcinoma, is an aggressive malignancy with a high indidence of local recurrence and metastasis. We describe a case of neuroendocrine carcinoma of the skin with unusual metastatic spread to the bone marrow in a 55-year-old man with systemic lupus erythematosus. Following resection of a left temporal subcutaneous nodule and complete left parotidectomy and radical lymph node dissection, the patient presented with pancytopenia. Although focal bony metastatic disease was not identified, his bone marrow was diffusely replaced by metastatic carcinoma. High-dose chemotherapy allowed a brief remission; however, the patient subsequently died with central nervous system metastases. © 1993 Wiley-Liss, Inc.     

Patterns of disease on MRI in 53 children with tuberculous spondylitis and the role of gadolinium

BACKGROUND: Tuberculosis (TB) of the spine is the most common site of osseous involvement and has a higher prevalence in developing nations with an increasing incidence in developed nations. There are few paediatric reports of TB spondylitis (TBS) that include MRI findings. OBJECTIVE: To determine the MRI characteristics of TBS in children with special reference to gadolinium enhancement and findings on follow-up MRI. MATERIALS AND METHODS: A retrospective review of patient records and MRI scans by three readers using a consensus method of 53 patients below 13 years of age. RESULTS: Seventy-nine percent presented with kyphosis. MRI showed thoracic involvement in 83%. Eighty-five percent showed contiguous involvement of two or more vertebral bodies. An intraspinal or paraspinal soft-tissue mass or abscess was present in 98%. Subligamentous extension was noted in 64% of patients. Gadolinium was administered in 26 patients. Ring enhancement of the soft-tissue mass was shown in 65% of these. Subligamentous enhancement was shown in 35% and bone enhancement was shown in 100% of patients. Follow-up MRI performed in 16 patients showed progressive bone destruction in 10 patients, progressive kyphosis in 2 patients and progression of soft-tissue disease in 4 patients. CONCLUSIONS: We have demonstrated an advanced pattern of TBS in this childhood population, which supports other reports that describe a more aggressive process in children. Kyphosis and cord compressions were the most common complications. The use of gadolinium is promising in detecting disease earlier, as it invariably results in bone enhancement and may assist in making the diagnosis when the rim-enhancing pattern of the soft-tissue mass is demonstrated. Follow-up imaging with MRI is a suitable way of assessing resolution of cord compression and decrease in size of the soft-tissue mass. Therefore, considering the pattern of involvement in children with TBS demonstrated by this study, MRI is considered an ideal modality for making the diagnosis, demonstrating the extent of disease, identifying complications and assessing response to treatment.     

Hemangioendothelioma: A Rare Case of a Primary Intracardiac Tumor

Kaposiform hemangioendothelioma (KH) is a rare tumor of vascular origin that commonly affects the cutaneous tissues of the extremities. It can, however, affect the abdomen, thorax, head, or neck. Compared with juvenile hemangiomas, which tend to regress, KH tumors are locally aggressive and usually persist. Associated morbidity and mortality rates range from 12 to 30 % and typically are related to either compressive effects on surrounding vital structures or effects of the Kasabach–Merritt phenomenon [10, 11, 13]. To our knowledge, this report is the first to describe KH presenting as a primary intracardiac tumor.     

Primitive neuroectodermal tumour (PNET) of the kidney: a rare renal tumour in adolescents with seemingly characteristic radiological features

BACKGROUND: Primitive neuroectodermal tumours (PNETs) constitute a family of neoplasms of presumed neuroectodermal origin that predominantly present as bone or soft-tissue masses in adolescents and young adults. PNET arising in the kidney is rare. OBJECTIVE: To describe the radiological features in three patients with primary renal PNET. MATERIALS AND METHODS: The radiological features of primary renal PNET in three adolescent patients (age 10, 14 and 16 years) are described. RESULTS: Tumour thrombus extending into the renal vein and inferior vena cava was noted in all three patients. In addition, further tumour extension into the atrium was seen in two patients with extension into a pulmonary artery in one patient. Neural foraminal and intraspinal extension close to the origin of the tumour was identified in two patients. Liver, bone and lung metastases were identified. CONCLUSION: While rare, one should consider the diagnosis of PNET when encountering a renal mass with aggressive features such as inferior vena cava tumour thrombus, direct intraspinal invasion and distant metastasis.     

Infant shoulder sonography: technique, anatomy, and pathology

Background: In the infant, shoulder injury due to birth trauma and infection in joint and bone may be difficult to detect radiographically. Shoulder ultrasound provides a dynamic, noninvasive method of evaluation. Objective: To develop a technique to evaluate the infant shoulder and to successfully demonstrate pathology. Materials and methods: Using a multiplanar, dynamic technique, 24 normal and 12 symptomatic infants (age range, 3 days to 9 months) were examined (49 shoulders). Results: Sonographic findings were normal in 41 shoulders and abnormal in 8 shoulders. Abnormalities included subluxation, fracture, abnormal cartilage, soft-tissue mass, and inflammatory collections, including effusion. Conclusion: Ultrasound can be used successfully to evaluate the infant shoulder for instability, fracture, and infection. Received: 7 March 2001/Accepted: 25 July 2001     

Composite sarcoma of bone with focal rhabdomyosarcoma and lymph node metastasis in an adolescent

Composite sarcoma of bone is a very rare entity that primarily affects adolescent and young adult patients. It usually combines areas of liposarcoma and osteosarcoma, and up to 60% of cases have metastatic disease at diagnosis. It is a highly aggressive pathology with intrinsic resistance to bone sarcoma conventional treatments. The prognosis is poor, with long‐term survival rates not exceeding 30%. We present the case of an adolescent female diagnosed with an aggressive composite sarcoma of bone with rhabdomyosarcoma foci and loco‐regional lymph node involvement.     

Inflammatory Pseudotumor of the Kidney with Extensive Metaplastic Bone

Inflammatory pseudotumor (IPT) of the kidney is a very rare lesion. We describe an 8-year-old boy with IPT of the kidney presenting as a single episode of hematuria. The case highlights a new feature, metaplastic bone, not previously described in IPT. This new feature may be helpful in establishing the correct preoperative and histopathologic diagnosis of IPT of kidney and avoiding inappropriately aggressive therapy. Despite its rarity, IPT of the kidney should be kept in mind in the differential diagnosis of a solitary renal mass.     

Aggressive Digital Papillary Adenocarcinoma in a 15-year-old Female

Aggressive digital papillary adenocarcinoma is a rare neoplasm of eccrine sweat gland origin that typically presents as a mass on a finger, toe, or the adjacent skin. Less than 100 cases have been reported. The majority of these cases are described in males in their fifth to seventh decade. We report a case of an aggressive digital papillary adenocarcinoma of the right second toe in a 15-year-old white female. A metastatic work-up, computed tomography of the chest, abdomen, pelvis, and a bone scan, was negative. The patient underwent amputation of the right second toe through the metatarsophalangeal joint. Two sentinel lymph nodes were biopsied and found to be negative for metastatic disease. One year after surgery the patient has no evidence of disease recurrence. To our knowledge, this is the youngest reported case of an aggressive digital papillary adenocarcinoma.     

Glucose and leucine kinetics in idiopathic ketotic hypoglycaemia.

AIMS: To investigate glucose and leucine kinetics in association with metabolic and endocrine investigations in children with ketotic hypoglycaemia (KH) in order to elucidate the underlying pathophysiology. METHODS: Prospective interventional study using stable isotope tracer in nine children (mean age 4.23 years, range 0.9-9.8 years; seven males) with KH and 11 controls (mean age 4.57 years, range 0.16-12.3 years; four males). RESULTS: Plasma insulin levels were significantly lower in KH compared to subjects in the non-KH group. Plasma ketone body levels were significantly higher in KH than in non-KH. Basal metabolic rate was significantly higher in subjects with KH (45.48+/-7.41 v 31.81+/-6.72 kcal/kg/day) but the respiratory quotients were similar in both groups (KH v non-KH, 0.84+/-0.05 v 0.8+/-0.04. Leucine oxidation rates were significantly lower in children with KH (12.25+/-6.25 v 31.96+/-8.59 micromol/kg/h). Hepatic glucose production rates were also significantly lower in KH (3.84+/-0.46 v 6.6+/-0.59 mg/kg/min). CONCLUSIONS: KH is caused by a failure to sustain hepatic glucose production rather than by increased glucose oxidation rates. Energy demand is significantly increased, whereas leucine oxidation is reduced.     

Pigmented villonodular synovitis. Diffuse and localized forms in children]

Pigmented villonodular synovitis (PVS) is characterized by a locally aggressive synovial proliferation that engenders progressive destruction of cartilage and bone. Two cases, a diffuse and a localized form, are reported. CASE REPORT: 1) A 9.9-year-old boy followed up for a popliteal cyst presented with chronic arthritis of the left knee. Aspiration yielded a bloody synovial fluid. MRI showed a heterogeneous synovial process with decreased signal in both T1- and T2-weighted images. The diagnosis of PVS was made on histology of an excisional biopsy. A complete open synovectomy was then performed. 2) A 13.8-year-old boy had a palpable mass on the internal side of the right patellofemoral joint. MRI showed a heterogenous mass with areas of hypointensity on all spin echo sequences corresponding to hemosiderin deposits suggestive of PVS. Surgical excision of a reddish-brown circumscribed lesion was performed. Diagnosis of PVS was made at surgery and confirmed by histologic examination. CONCLUSION: PVS diagnosis is frequently delayed due to nonspecific symptoms. Bloody fluid aspiration and MRI are valuable tools for early diagnosis. Treatment is surgical: extensive synovectomy for the diffuse form, excision of the lesion for the localized form.     

Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control

OBJECTIVE: To study the relation between muscle force, bone mass, and metabolic control in patients with glycogen storage disease type (GSD 1).Study design: Distal radius bone mass and density were evaluated in 19 patients with GSD 1 (15 GSD 1a, 4 GSD 1b) by means of peripheral quantitative computed tomography. Grip force was quantified with a dynamometer. RESULTS: Height, weight, bone mass, and grip force were significantly decreased in the patients with GSD 1a, mainly as the result of low values in the poorly controlled subgroup. Boys had lower bone mass than girls. Patients with GSD 1b had higher values for bone mineral density in the trabecular compartment. In most of the study participants bone mass appeared to be adequately adapted to the mechanical requirements imposed by muscle contraction. However, 3 patients with GSD 1a had evidence for a low bone mass. CONCLUSIONS: In GSD 1, both reduced muscle strength and a direct disease effect can contribute to low bone mass. The quality of treatment is crucial to prevent disturbances in musculoskeletal development.     

Embryonal rhabdomyosarcoma of the auricle in a child

We describe the diagnosis and management of a child with embryonal rhabdomyosarcoma of the auricle and emphasize both clinical and radiological findings of this rare condition. A nine‐year‐old boy presented for evaluation of a slowly enlarging left auricle mass. The mass was nodular, violaceous, semi‐translucent, and hyperpigmented with an overlying pseudo‐vesicular plaque. The mass appeared to involve the left cavum concha, root of the helix, superior aspect of the external auditory canal, the tragus and extend to a deep preauricular component. MR imaging documented a lobulated soft tissue mass surrounding the external auditory canal with superficial involvement of the pinna. Incisional biopsy of the mass suggested embryonal rhabdomyosarcoma. The tumor was completely removed by total auriculectomy and lateral temporal bone resection. The final diagnosis was embryonal habdomyosarcoma. Although rare, otolaryngologists, pediatricians, and radiologists need to consider rhabdomyosarcoma in the differential diagnosis of auricle mass in children.     

Skull base osteomyelitis and potential cerebrovascular complications in children

Skull base osteomyelitis is an aggressive, life-threatening infection that can be challenging to diagnose and treat. It occurs predominantly in elderly immunocompromised patients, but it has also been reported in children with normal immunological status. Typical skul base osteomyelitis arises as a complication to ear infection mainly involving the temporal bone and is usually caused by Pseudomonas aeruginosa. Atypical or central skul base osteomyelitis originates from paranasal infections, is primarily centred on the clivus and is usually caused by Aspergillus, Pseudomonas, Salmonella or Staphylococcus species. Potential complications include retropharyngeal abscesses, cranial neuropathies, meningitis, intracranial abscesses, sinovenous thrombosis, and carotid artery involvement with or without ischemic infarcts. The purpose of this pictorial essay is to illustrate the spectrum of imaging findings and potential complications of skul base osteomyelitis.     

Fasting adaptation in idiopathic ketotic hypoglycemia: a mismatch between glucose production and demand

In order to study the pathophysiology of hypoglycemia in idiopathic ketotic hypoglycemia (KH), glucose kinetics during fasting in patients with KH were determined. A fasting test was performed in 12 children with previously documented KH. Besides determination of glucoregulatory hormones, plasma ketones, FFA and alanine, the rates of endogenous glucose production (EGP), glucose uptake, gluconeogenesis (GNG) and glycogenolysis (GGL) were quantified using the [6,6-(2)H(2)] glucose isotope dilution method and the deuterated water method. The five youngest subjects (age 2.5-3.9 years) became hypoglycemic (glucose <3.0 mmol/l) during the test. Mean differences in glucose kinetics between overnight fasting and the end of the test in the hypoglycemic vs. the normoglycemic subjects were: EGP: -31.9% vs. -17.9% (p = 0.007), GGL: -66.2% vs. -50.8% (p = 0.465) and GNG 6.8% vs. 19.5% (p = 0.465). Plasma alanine levels were significantly lower (p = 0.028) at the end of the test in the hypoglycemic subjects. Plasma ketones and FFA levels were in the normal range for fasting duration in all subjects. We conclude that hypoglycemia in KH is caused by the inability to sustain an adequate EGP during fasting in view of the higher glucose requirement in young children. The decrease in GGL is not accompanied by a significant increase in GNG, possibly because of a limitation in the supply of alanine. Our results support the hypothesis that KH represents the lower tail of the Gaussian distribution of fasting tolerance in children.     

Aneurysmal bone cyst of the petrous bone: case presentation and review of the literature

Aneurysmal bone cysts (ABC) were originally described by Jaffe and Lichtenstein [Arch Surg 1942;44:1004-1025] in 1942 as nonneoplastic benign lesions with obscure pathogenesis. ABC occurring in the temporal bone are uncommon. Those arising from the petrous portion of the temporal bone are exceedingly rare. We report a right petrous ABC in a 16-year-old girl who presented clinically with hearing loss, facial weakness, and facial numbness and tingling. Her symptoms were preceded by a coincidental traumatic concussion 4 months earlier. Preoperative magnetic resonance imaging and computed tomography findings were both consistent with an ABC, although the lesion was noted to be in a very unusual location. Surgical resection was performed with adjuvant preoperative embolization. The patient recovered complete facial sensation and movement, and follow-up imaging documented complete resection.     

Bone mass after treatment of malignant lymphoma in childhood.

BACKGROUND: Sex hormone deficiency, growth hormone deficiency, skeletal irradiation, and treatment with corticosteroids or methotrexate may all cause reduction in bone mass after treatment for childhood malignant lymphoma. Previous studies of the bone mass of childhood cancer survivors often lacked adequate local reference data, and survivors of malignant lymphoma were never analyzed separately. PROCEDURE: The bone mass of survivors of childhood Hodgkin disease (n = 23) or non-Hodgkin lymphoma (n = 21) was measured by dual-energy X-ray absorptiometry a median of 11 years after diagnosis (range 2-25). Results were compared with local data on 463 healthy controls. RESULTS: Adjusted for gender and age, the mean whole-body bone mineral content and bone mineral areal density were slightly, but significantly, reduced (0.5 and 0.4 SD lower than predicted). The reduced bone mineral content was associated with a significantly reduced height, whereas the size-adjusted bone mass (bone mineral content for bone area) did not differ significantly from that of controls. Lower height was related to male gender and to cranial, thoracic, and lumbar spine irradiation. Whole-body bone mineral content and bone mineral density were lower in persons treated with lumbar spine irradiation and whole-body bone mineral content was higher in nine women receiving sex hormone replacement therapy or oral contraceptives. Whole-body bone mass was not related to the cumulated doses of corticosteroids or methotrexate. CONCLUSIONS: Eleven years after diagnosis of childhood Hodgkin disease or non-Hodgkin lymphoma, the whole-body bone mass of survivors was only slightly reduced and the size-adjusted bone mass was normal.     

Hypocalcemia as a presentation for multifocal osteosarcoma

We report the case of a 16-year-old male with multifocal osteosarcoma presented with symptomatic hypocalcemia. The patient presented signs of hypocalcemia accompanied by generalized bone pain and a femoral mass. Further evaluation revealed secondary hyperparathyroidism, highly elevated alkaline phosphatase levels, and generalized sclerotic and lytic lesions. Biopsy confirmed osteosarcomatosis. Despite aggressive chemotherapy, he died from progressive disease 2 months after diagnosis. The course of disease in this patient suggests that hypocalcemia reflects a poor prognosis.     

Improvement of aggressive and antisocial behavior after resection of temporal lobe tumors

Seizures associated with temporal lobe tumors may rarely manifest as episodic aggressive behavior. We describe 2 cases involving pediatric patients who presented with histories of unusually aggressive and antisocial behavior. Magnetic resonance imaging identified right mesial temporal lobe masses in both patients. After craniotomy for tumor removal, both patients were seizure-free and had marked reductions in their aggressive behavior. Tumors in the temporal lobe may be associated with behavioral problems, including aggression and rage attacks, which can be alleviated with surgical intervention. It is important to distinguish this subgroup of pediatric patients from those with alternative diagnoses such as attention-deficit/hyperactivity disorder or oppositional defiant disorder.