Karen S. Carvalho

Cerebral Venous Thrombosis in Children

Cerebral venous thrombosis is an important cause of stroke in children. Understanding the natural history of the disease is essential for rational application of new interventions. We retrospectively identified 31 children with cerebral venous thrombosis confirmed by head computed tomography (4 patients) or by magnetic resonance imaging (27 patients). Risk factors, clinical and radiographic features, and neurologic outcomes were analyzed. There were 21 males and 10 females aged 1 day to 13 years (median 14 days). Nineteen (61%) were neonates. The most common risk factors included mastoiditis, persistent pulmonary hypertension, cardiac malformation, and dehydration. The chief clinical features were seizures, fever, respiratory distress, and lethargy. Fifteen patients had infarctions (8 hemorrhagic, 7 ischemic). Protein C and antithrombin III deficiency were the most common coagulopathies among 14 tested patients. On discharge, 11 patients were normal, 17 had residual deficits, and 2 patients died. Twenty-seven patients were followed from 1 month to 12 years (mean 22 months). At follow-up, 11 patients were normal, and 13 patients had development delay. One had residual hemiparesis and cortical visual impairment. Two had other deficits. Neonatal cerebral venous thrombosis is probably more common than previously thought, and outcomes are worse in this group. All children with cerebral venous thrombosis should be tested for coagulation disorders. (J Child Neurol 2001;16:574-580).

Arterial strokes in children

Pediatric stroke has received special attention in the recent literature. It is now recognized as an important cause of mortality and morbidity in pediatric population. Varied and poorly specific symptomatology as well as overlapping risk factors makes the diagnosis of stroke in childhood challenging. Therapy remains controversial. The use of anticoagulation and thrombolysis in the management of acute stroke in children has not been systematically studied. In this article, we discuss the natural history, investigation, and treatment of pediatric arterial hemorrhagic and ischemic strokes.

Cardiac asystole during a temporal lobe seizure

The association between temporal lobe seizures and cardiac arrhythmias has been anecdotally reported in the literature. Ictal bradycardia and cardiac asystole are rare, and maybe underestimated. The physiological mechanism is poorly understood. We report a patient with left temporal lobe seizures who developed ictal bradycardia and cardiac asystole during a complex partial seizure and required a subsequent placement of a pacemaker.

Clinical Findings in Pelizaeus-Merzbacher Disease

Pelizaeus-Merzbacher disease is a rare X-linked disease characterized by defective central nervous system myelination owing to a mutation in the proteolipid protein 1 gene. Few studies report detailed clinical findings in children with genetic confirmation of mutations in the proteolipid protein 1 gene. We reviewed the records of 10 boys with Pelizaeus-Merzbacher disease and one symptomatic carrier girl. Their median age was 2½ years (range 10 months to 20 years). Nine had proteolipid protein 1 gene duplications, one had a point mutation, and one had a single codon deletion. The families of eight patients reported perinatal complications, including maternal hypertension (three patients) and meconium aspiration (three patients). All of the patients were social and interactive, but all had difficulty with expressive speech. All patients presented with nystagmus and had hypotonia that progressed to spasticity, affecting the legs more than the arms; ataxia also contributed to motor impairment. Additional problems reported regarded feeding (eight patients) and sleep (three patients). Further work is needed to clarify the variations in disease course and the relationship of genotype to phenotype. (J Child Neurol 2004;19:328-331).

Cerebral venous thrombosis and venous malformations in children

Venous strokes are not as common as arterial strokes in the pediatric population, but may be associated with significant mortality and morbidity. Cerebral vein thrombosis and venous sinus thrombosis are responsible for most venous strokes. Vein of Galen malformation is a rare but important cause of mortality in neonates and infants. Awareness of these potential causes of stroke in the pediatric population, early diagnosis, and appropriate therapeutic strategies are paramount to reduce mortality and improve neurologic outcome.

A 9-Year-Old Boy with a History of Large Perinatal Stroke, Infantile Spasms, and High Academic Achievement

The prognosis for intellectual development in children with symptomatic infantile spasms is usually poor. We report a 9-year-old boy with a history of a large, presumed perinatal, left middle cerebral artery infarct discovered when he developed infantile spasms at 6 months of age. The infantile spasms responded to treatment with adrenocorticotropic hormone. He attained cognitive mile-stones at normal times, requiring only speech therapy for dysarthric speech. At 9 years of age, he has seizures and a severe right hemiparesis but is an articulate honor roll student in advanced English classes. The development of infantile spasms after large-branch middle cerebral artery stroke does not always predict future mental retardation. (J Child Neurol 2005;20:444—446).

Deep brain stimulation of the globus pallidus suppresses post-traumatic dystonic tremor

Dystonic tremor is an unusual movement disorder that is highly disabling and difficult to treat medically. We describe an 18-year-old patient with dystonic tremor whose medical treatment failed, and was considered for surgery. The patient had a long-standing dystonic tremor and was recommended for globus pallidus (GP) deep brain stimulation. At 2 year follow-up, we observed substantial tremor suppression and best clinical effect with contact three, which, radiographically, is located in the internal globus pallidus/external globus pallidus transition area. The stimulation was more rostral than expected. We conclude that the GP is a potentially useful therapeutic target for dystonic tremor.