Different additional risk factors for cerebral infarctions associated with the factor V Leiden mutation in a family.

Several cases with cerebral infarctions associated with the factor V Leiden mutation have been reported. However, bearing in mind the large number of asymptomatic individuals with the factor V Leiden mutation, additional risk factors for cerebral infarctions should be considered. In this report, two siblings with cerebral infarctions associated with a combination of heterozygous factor V Leiden mutation and different additional exogenous and endogenous thrombogenic risk factors are described.

Infantile spasms in an infant with cytomegalovirus infection treated with ganciclovir.

A 3-month-old male infant with cytomegalovirus infection and intractable partial seizures was treated with ganciclovir for 6 weeks. The drug was well tolerated, and virus shedding in the cerebrospinal fluid and urine was eliminated, although infantile spasms at the age of 6 months appeared. At the age of 12 months, intractable seizures persisted, and the psychomotor development of the infant was markedly delayed.

Non-convulsive status epilepticus associated with tiagabine therapy in children.

A case of a 7-year-old male with epilepsy who developed non-convulsive status epilepticus (NCSE) with electroclinical features consistent with those of atypical absence seizures after adjunctive antiepileptic therapy of tiagabine (TGB) is reported. The patient had frequent generalised and rare partial seizures with generalised epileptic discharges on prior electroencephalogram (EEG) recordings. NCSE was developed when rapid dosage increase and high dose of TGB was given.

Acute necrotizing encephalopathy associated with parainfluenza virus in a Caucasian child.

Acute necrotizing encephalopathy is a severe parainfectious disorder with a clear racial predilection for Oriental children living in the Far East. The prognosis was originally reported as grave; however, a mild form of the disease has recently been described. A case of parainfluenza virus-associated acute necrotizing encephalopathy in a Caucasian child with a mild clinical course and excellent prognosis is presented.

Congenital microcephaly in two infants with the factor V Leiden mutation.

Two infants with congenital microcephaly associated with the factor V Leiden mutation are described. In both cases, brain magnetic resonance imaging (MRI) revealed cerebral atrophy and porencephalic cystic lesions, which were probably attributable to prenatal cerebral vascular events. These findings suggest that assessment for this mutation is an important part of the evaluation of infants with unexplained congenital microcephaly, especially in cases with infarcts and/or porencephalic cysts on brain MRI.

Congenital asymmetric crying facies and agenesis of corpus callosum.

Although association of congenital asymmetric crying facies (CACF) with major congenital anomalies of central nervous system (CNS) has been described, brain magnetic resonance imaging (MRI) studies have not been reported. Two children who had CACF associated with agenesis of corpus callosum (ACC) diagnosed by MRI are described. Neurofibromatosis type 1 (NF-1) was diagnosed in one case.

Long-term findings on brain magnetic resonance imaging in acute encephalopathy with bilateral striatal necrosis associated with measles.

The long-term findings on brain magnetic resonance imaging (MRI) in a 7 10/12-year-old boy with a history of acute encephalopathy with bilateral striatal necrosis following measles at the age of 22 months are described. At the early stage of illness, brain MRI studies revealed bilateral, symmetric basal ganglia lesions, predominant on the globi pallidi, appearing as hyperintense signals on T1- and T2-weighted images. Six years later, follow-up brain MRI studies showed that the bilateral, symmetric lesions on the globi pallidi persisted with low signal on T1- and high signal on T2 weighted images.

Infantile progressive bulbar palsy with deafness.

A 12-month-old boy with progressive cranial nerve palsies followed by ventilatory failure demanding artificial ventilation, generalized muscle weakness, and rapid progression to death at the age of 21 months is described. The patient had normal early development and also apparently normal hearing at presentation of illness but, after 6 months of the onset of the disease, hearing loss was documented by brainstem auditory evoked potentials (BAEP). Although the initial clinical and laboratory findings of this infant could fit with the diagnosis of progressive childhood bulbar palsy or Fazio-Londe (FL) disease, the subsequent appearance of hearing loss suggests that this patient represents a case of progressive bulbar palsy with perceptive deafness or Brown-Vialetto-Van Laere (BVVL) syndrome.

Acute disseminated encephalomyelitis associated with parainfluenza virus infection of childhood.

Acute disseminated encephalomyelitis associated with the parainfluenza virus has rarely been reported in childhood. A 2.5-year-old girl with acute disseminated encephalomyelitis, who developed bilateral symmetrical lesions in the basal ganglion, thalamus, corpus callosum, cerebral subcortical white matter, and cerebellar medulla on brain magnetic resonance imaging is described.