Hereditary hemorrhagic telangiectasia. A case report with known cerebral involvement and cardiac catheterization data.

Numerous bleeding episodes, neurological signs and symptoms, and pulmonary arteriovenous malformations are well documented in reports of families with hereditary hemorrhagic telangiectasia. It is always assumed that these are due to the arteriovenous malformations. We are here reporting a case with positive cerebral angiographic findings of large arteriovenous communications, as well as catheterization data revealing pulmonary abnormalities secondary to the cerebral arteriovenous fistula, but no abnormalities within the pulmonary vasculature itself.     

Cerebral Hemorrhage Associated with Sildenafil (Revatio) in an Infant

A case of cerebral hemorrhage associated with sildenafil (Revatio) use in an infant is presented. Sildenafil is increasingly used in the treatment of primary and secondary pulmonary arterial hypertension and pulmonary arteriovenous fistula. In the reported case, sildenafil used to treat pulmonary arteriovenous fistula improved right-to-left shunting across the pulmonary fistula but resulted in cerebral hemorrhage. Cerebral hemorrhage, a previously reported complication of sildenafil, developed in an infant after a rapid increase in dose, to 4.7 mg/kg/day. Therefore, sildenafil doses must be increased only with care, and cerebral hemorrhage must be considered a potential complication.     

Cerebral arteriovenous malformations in a probable familial form of Rendu-Osler disease]

Cerebral arteriovenous malformations with neonatal manifestations are infrequent and virtually always fatal. Heart failure with an intracranial bruit is the most common presentation. Exceptionally, the aneurysm is a manifestation of Rendu-Osler-Weber syndrome which is inherited on an autosomal dominant basis. Development of cerebral arteriovenous malformations occurs very early as demonstrated by the discovery of two aneurysms with major repercussions on the cerebral parenchyma in a female with severe prematurity. Pregnant women with suspected Rendu-Osler-Weber syndrome should undergo ultrasound studies targeted at identifying untreatable cerebral lesions antenatally.     

A very rare case of polysplenia syndrome with congenital diffuse pulmonary arteriovenous fistulas

A five-year-old girl patient was admitted with cyanosis and dyspnea, which started from birth. She had small telangiectatic lesions on her face and cerebral arteriovenous malformation, but no family history of hereditary hemorrhagic telangiectasia. Contrast echocardiography and pulmonary angiography demonstrated diffuse pulmonary arteriovenous fistulas. The patient was diagnosed as polysplenia syndrome characterized with left atrial isomerism, interrupted inferior vena cava, azygous continuation to the superior vena cava, and hepatic veins draining to the right atrium. In contrast to the other polysplenia syndrome cases, in this patient, pulmonary arteriovenous fistulas were not associated with cavopulmonary anastomoses or liver disease.     

Digoxin toxicity in a premature infant: Treatment with Fab fragments of digoxin-specific antibodies

Summary The first use of Fab fragments to treat digoxin toxicity in a premature infant with renal failure, 18 h after the onset of severe arrhythmias, is reported with dramatic results. The development of digoxin toxicity in the context of accepted therapeutic dosing to treat heart failure due to a cerebral arteriovenous malformation is discussed.     

Cardiac failure caused by arteriovenous malformation in the area of Galen's vein. Treatment by endovascular embolization

The authors report a case, in a 7-month-old girl, of cerebral arteriovenous malformation with a vein of Galen ectasia, complicated by a congestive heart failure and hydrocephalus. The clinical diagnosis was carried out by fontanelle auscultation and confirmed by: cerebral echography. D?ppler exploration, computerized tomography and cerebral angiography. A cerebral embolization permitted reduction of cardiac insufficiency and stabilisation of the hydrocephalus.     

Aneurysm of the vein of Galen with neonatal cardiac insufficiency. Success of early neurosurgical treatment

The vein of Galen malformation is a rarely recognized cause of congestive heart failure in the newborn. This report describes a newborn who developed severe cardiac failure in the second week of life. An aneurysm of the vein of Galen was noted on the computerized tomography scan, confirming the clinical diagnosis of cerebral arteriovenous fistula. The vascular abnormality was well shown by cerebral arteriography. At the age of four weeks, surgery was carried out by clipping the afferent arteries. The patient is non a three years old infant with moderate developmental delay and hypotonia.     

Arteriovenous malformations as a cause of congestive heart failure in the newborn and infant

Three cases of congestive heart failure are presented caused by a cerebral arteriovenous aneurysm, a pulmonary arteriovenous aneurysm and a placental angioma respectively. Such conditions should be borne in mind in otherwise unexplained heart failure in the neonatal period and in infants. The haemodynamic influence of the malformation depends on its anatomy, giving rise to various clinical pictures.     

Arteriovenous fistula of the vertebral artery in a female infant with hypotonia and cephalocorporal disproportion

Background: Congenital arteriovenous fistulas are exceptional in childhood and imply a therapeutic challenge. Case report: A 9‐month‐old female infant was studied for cephalocorporal disproportion, hypotonia, progressive muscular atrophy and hyperreflexia. Computed tomography of the brain and electroencephalography were normal. Electromyographic patterns suggested proximal myopathic involvement. A continuous murmur with systolic reinforcement was audible in the neck. Angioresonance detected intracranial aneurysmal dilatations behind the bulbo‐medullary junction and cerebral panangiography evidenced a direct vertebrovertebral fistula with extra‐ and intra‐cranial varices and extreme medullary compression. Occlusion of the afferent vessel to the aneurismal sack was successfully achieved with a mixture of Histoacryl and 75% lipiodol via a microcatheter. Conclusion: Clinical signs of an arteriovenous fistula may be atypical. Considerable cephalocorporal disproportion and a bruit in the cervical or retromastoidal regions must suggest its existence. Complete obliteration with endovascular embolization permits somatic and neurological recovery.     

A neonate with high-outflow congestive heart failure and pulmonary hypertension due to an intracranial arteriovenous malformation

Congestive heart failure in the newborn period is uncommon and is most commonly related to congenital structural heart disease. However, the differential diagnosis is broad and includes arrhythmias, congenital or acquired myopathies, sepsis, severe anemia, or other conditions leading to high-output cardiac failure. Here we report on a 4-day-old girl with high-output heart failure due to a congenital cerebral arteriovenous malformation.     

Arteriovenous malformation of the great cerebral vein (of Galen) in a newborn

This is a report of a case with an arteriovenous (a.v.) malformation of the great cerebral vein. Applicable diagnostic procedures are reviewed. The initial diagnostic procedure in the approach to an a.v. malformation of the great vein of Galen is cerebral ultrasound.The findings in our patient are compared with those reported in the literature.     

Hemorrhagic stroke associated with pulmonary edema and catastrophic cardiac failure

Cerebral arteriovenous fistula (AVF) is a vascular malformation that is rare in the pediatric population. Older children with cerebral AVF tend to present with neurologic problems related to intracranial venous hypertension or intracranial hemorrhage. Cardiac and pulmonary complications following acute neurologic injury such as subarachnoid hemorrhage are common in adults, but are rarely reported in children. However, complications have been reported in cases of enterovirus 71 rhombencephalitis in infants and children and can cause high morbidity and mortality. Here, we report a 14-year-old boy who presented with cardiac failure associated with pulmonary edema following cerebral hemorrhagic stroke due to AVF. After aggressive investigation and management, we intervened before significant hypoxia and hypotension developed, potentially reducing the risk of long-term adverse neurologic consequences in this patient.     

Ruptured arteriovenous malformation in a boy with Beckwith-Wiedemann syndrome

We report here the first case of ruptured arteriovenous malformation (AVM) in a patient with Beckwith-Wiedemann syndrome (BWS). The subject was a 9-year-old boy exhibiting various abnormal features characteristic of BWS, who had undergone frequent surgical management for conditions such as umbilical hernia, polydactyly, inguinal hernia, cleft palate and lip, and undescended testis. The patient was suffering from ruptured AVM in the right frontal lobe, which was successfully managed with surgical interventions. The possible genetic mechanisms that formed the cerebral vascular malformations in this patient are discussed.     

Stroke in a child with Adams-Oliver syndrome and mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome

Diabetes mellitus complicated by mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome presents a special challenge to physicians. There is no standard protocol for the management of mixed hyperglycemic hyperosmolar syndrome and diabetic ketoacidosis in children. The commonest cause of neurological deterioration during an episode of diabetic ketoacidosis is cerebral edema, whereas hyperosmolality often leads to thrombosis. The risks for these complications are further increased in diseases associated with vasculopathies. We present the first case of complex cerebral arteriovenous thrombosis leading to stroke in a child with Adams-Oliver syndrome, a genetic condition that is associated with abnormal vasculogenesis. He presented with new-onset double diabetes complicated by a combination of diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome. Magnetic resonance imaging, magnetic resonance angiography, and magnetic resonance venography provided evidence for an ischemic stroke. Children and adolescents who present with a combination of hyperglycemic hyperosmolar syndrome and diabetic ketoacidosis should be monitored for neurologic deficits and must be investigated for both stroke and cerebral edema in the event of neurological deterioration.     

Diffuse Meningocerebral Angiodysplasia and Renal Agenesis: A Case Report

A third case of meningocerebral angiodysplasia involving the cerebral cortex, with necrosis of both cortex and white matter is described in a neonate with Potter's syndrome. It is suggested that cortical vessel anomalies act as a local intracerebral shunt to produce periventricular infarction. This disorder differs from pure meningeal angiectasis without cerebral infarction and from the classic arteriovenous malformation of the central nervous system with massive systemic shunt, cardiomegaly, and neonatal cardiac failure. Meningocerebral angiodysplasia and renal agenesis appear to form a rare but distinct association.     

Diffuse meningocerebral angiodysplasia and renal agenesis: a case report

A third case of meningocerebral angiodysplasia involving the cerebral cortex, with necrosis of both cortex and white matter is described in a neonate with Potter's syndrome. It is suggested that cortical vessel anomalies act as a local intracerebral shunt to produce periventricular infarction. This disorder differs from pure meningeal angiectasis without cerebral infarction and from the classic arteriovenous malformation of the central nervous system with massive systemic shunt, cardiomegaly, and neonatal cardiac failure. Meningocerebral angiodysplasia and renal agenesis appear to form a rare but distinct association.     

Pulmonary arteriovenous malformations

Pulmonary arteriovenous malformations rarely present in childhood. Two cases are presented in this report. Both the cases presented clinically with cyanosis and clubbing without a cardiac murmur. The second case had cerebral abscess in addition. Both the cases underwent a contrast-enhanced echocardiography which suggested the presence of pulmonary arteriovenous malformations. The first case also underwent^99mTc radionuclide scan and pulmonary angiography. The cases are being reported for their characteristic clinical features and for emphasizing the role of non-invasive modalities like contrast-enhanced echocardiography and radionuclide scan in reaching the diagnosis.     

De novo cerebral arteriovenous malformation in a child with previous cavernous malformation and developmental venous anomaly

Although cerebral vascular malformations are traditionally considered to be congenital lesions, they often become clinically evident in the 3rd to 4th decades of life, leading to the assumption of a long silent clinical period. Unlike vein of Galen malformations, antenatal diagnosis of cerebral arteriovenous malformations (AVMs) is highly uncommon. Postnatal development of an AVM is an emergent concept supported by more clinical observations. Genetic and biological studies demonstrate that an environmental trigger ("second hit") in addition to genetic predisposition may be a key in understanding the pathophysiology of AVMs and other cerebral vascular lesions such as cavernous malformations (CMs). The authors describe a 6-year-old boy in whom a giant CM was diagnosed and a de novo AVM was detected 25 months after initial resection of the CM. This case seems to support the second-hit hypothesis.     

Cerebral arteriovenous malformations in childhood: state of the art with special reference to treatment

In this state of the art paper, the clinical and diagnostic features of cerebral arteriovenous malformation (AVM) in childhood are outlined and special attention is paid to the treatment. Several options exists for the treatment of an AVM, consisting of surgery, endovascular embolization, stereotactic radiosurgery, or a combination of these treatments. Received: 19 March 1997 / Accepted: 24 March 1997     

Spontaneous resolution of marked dilatation of cerebral duro-venous system in newborn presenting with fetal hydrops

A newborn with antenatal diagnosis of fetal hydrops at 36 wk of gestation, presented with congestive heart failure (CHF) and generalized edema. Computed tomographic angiography showed marked dilatation of cerebral duro-venous system including vein of Galen (VOG), straight sinus, torcula and transverse sinus without evidence of arteriovenous fistulae at the vein of Galen. Dilatation of duro-venous system resolved with concomitant improvement in biventricular function and CHF with decongestive therapy. Such entity should be differentiated from more serious conditions like VOG malformation and venous sinus thrombosis.