Endovascular treatment of a spinal arteriovenous malformation in a 21-month-old boy

Reports of spinal arteriovenous malformations in children are rare. This case report describes a 21-month-old boy whose first symptom was attacks of abdominal pain, followed gradually by neurological symptoms. The diagnosis was made using magnetic resonance imaging and spinal angiography, and the patient was successfully treated with embolization.     

Sturge-Weber syndrome associated with a large left hemispheric arteriovenous malformation

A patient with the characteristic changes of Sturge-Weber syndrome on the right side was found to have a large arteriovenous malformation on the left side which involved the superior ophthalmic vein. This association, although previously reported, is extremely rare.     

Nasal encephalocele in a child with Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by gigantism, macroglossia, exophthalmos, postpartum hypoglycemia, and multiple midline defects such as omphalocele. The authors describe, to the best of their knowledge, the first case of a child in whom BWS was diagnosed and who was subsequently treated for a nasal encephalocele. Because the authors believe that this feature might not be an incidental finding in patients with BWS, intranasal masses in these patients should be carefully differentiated, as complications might be severe.     

Ultrasound features of a paratesticular arteriovenous malformation: a case report of an 11-year-old boy

A paratesticular arteriovenous malformation (AVM) in an 11-year-old boy with a solitary testicle led to a testicle-sparing excision. The radiological features of this rare lesion are reviewed.     

Acute lymphocytic leukemia in a child with Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by neonatal hypoglycemia, abdominal wall defects, macroglossia, organomegaly, ear pits and creases, hemihypertrophy, and increased birthweight. Children with BWS have an increased risk of malignancy. The authors present the case of a 3-year-old boy diagnosed with both BWS and acute lymphocytic leukemia (ALL). This case report will elaborate on the possibilities as to how BWS and ALL may be associated due to abnormal genomic imprinting and IGF dysregulation.     

Renal cell carcinoma in a patient with Beckwith-Wiedemann syndrome

We report the case of a patient with Beckwith-Wiedemann syndrome (BWS) who developed renal cell carcinoma (RCC). At birth, this patient presented with macroglossia, diastasis recti, mild gigantism, hepatomegaly and hypoglycemia, and the diagnosis of BWS was made. At 22 months, an intrapelvic rhabdomyosarcoma was detected and resected. At 37 months, computed tomography (CT) demonstrated a small mass with high attenuation in the right kidney, which was surgically confirmed to be RCC.     

Diffuse intestinal arteriovenous malformation in a child

Mesenteric arteriovenous fitulas or arteriovenous malformations of the intestine are relatively rare, especially in the form of diffuse disease. We describe a case of diffuse intestinal arteriovenous malformation associated with congestive heart failure and cutaneous hemangioma.     

Hypercalciuria in Beckwith-Wiedemann syndrome

We determined the incidence of hypercalciuria (HC) and its association with nephrocalcinosis and nephrolithiasis in 18 consecutive patients with Beckwith-Weidemann syndrome (BWS). Random, nonfasting urine samples were obtained from each patient. All patients had abdominal ultrasonography, most on several occasions. Four patients (22%) had HC. Of these, 2 had nephrocalcinosis, one had hyperechoic kidneys, and one had normal renal imaging. Serum calcium was normal in all patients with HC. Because we found that an increased prevalence in the occurrence of HC and its complications in a group of children with BWS, any child with BWS should be evaluated for HC.     

Osteosarcoma in a boy with Rothmund-Thomson syndrome

The first case of osteosarcoma in a 13 year old boy with Rothmund-Thomson syndrome is reported. The association between these two conditions in uncertain.     

Spinal arteriovenous malformation

An 11-year-old girl presented with acute onset of paraplegia with bowel and bladder incontinence. She had spinal tenderness and a sensory level at mid thoracic region. MRI spine revealed an intradural extramedullary arterio-venous malformation with hemorrhage into the intramedullary region. Hence a diagnosis of spinal arterio-venous malformation was entertained.     

Recurrent intracerebral hemorrhage from a cerebral arteriovenous malformation undetected by repeated noninvasive neuroimaging in a 4-year-old boy. Case report

The authors report the case of a 4-year-old boy with a spontaneous intracerebral hemorrhage (ICH) related to an arteriovenous malformation (AVM) that was not found with good-quality magnetic resonance (MR) imaging and MR angiography. Both modalities were used serially in the acute phase and at 2 and 7 months of follow-up. Digital subtraction angiography identified the peripheral AVM when the patient experienced rehemorrhaging 1 year after his initial presentation. This case illustrates the need for a complete diagnostic evaluation including conventional angiography in cases of idiopathic ICH in children.     

Gelastic fits in a two years old boy with a complex cerebral malformation

We report the case of a two years old boy showing gelastic fits as the leading clinical symptom of a rare complex cerebral malformation with closed-lip schizencephaly, an arachnoid cyst and a partial agenesis of the corpus callosum. After 5 uneventful interictal electroencephalograms the patient underwent 24 h EEG with telemetry while finally presenting two laughing fits with associated spike-wave discharges in the right-centroparietal region. Medical treatment with carbamacepine was initiated and the seizure frequency decreased significantly. This is the first cited case of gelastic fits occurring in schizencephaly. In contrast to previously cited cases with laughing fits we observed a good response to anticonvulsive treatment. Moreover our patient presented a surprisingly favourable psycho-mental and motor development during an 8 months observation period.     

Pulmonary arteriovenous malformation in children

Although pulmonary arteriovenous malformations (PAVM) are relatively rare in children, they are important in the differential diagnosis of common pulmonary problems, such as hypoxemia, hemoptysis and dyspnea on exertion. We report the cases of two PAVM patients with different presentations and describe the treatment strategies.     

Congenital coronary arteriovenous fistula in a ten-year-old boy with angina pectoris.

Congenital arteriovenous fistula (CAVF) is a rare cardiac lesion. Angina pectoris is uncommon in younger patients with CAVF. Fistula-related symptoms, complications of this anomaly and surgical complications have a strong correlation with the age of the patient. A ten-year-old male patient with angina pectoris in whom the diagnosis of CAVF was established, and who, following surgical ligation recovered, is presented.