Brain Hamartoma in an Infant with Bannayan-Riley-Ruvalcaba Syndrome: Patient Report and Review of the Literature

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare hamartomatous polyposis syndrome with features of macrocephaly, intestinal juvenile polyposis, visceral lipomas and developmental delay. An autosomal dominant pattern of inheritance exists in some families, but others appear as sporadic cases. Our patient had macrocephaly with normal ventricular size presenting early in infancy, associated with brain hamartoma revealed by MRI scan. The father and his first-degree relatives also shared features of macrocephaly and subcutaneous hamartomas. This is the first case reported in the literature of a brain lipoma presenting early in infancy in a child with BRRS. The early diagnosis of BRRS is important for timely genetic counseling. Because of the frequent association with both gastrointestinal and non-gastrointestinal malignant tumors, accurate diagnosis of this syndrome is essential. Despite previous reports, BRRS is not always associated with developmental delay. © 2000, by Walter de Gruyter GmbH & Co. All rights reserved

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. Serological confirmation of parainfluenza virus infection was made 2 weeks following the onset of neurological symptoms. Four months later, the patient had a full recovery. At present, 3 years later, no relapse has been reported and she is leading a normal life. Our case is of interest because of its rarity, the striking brain magnetic resonance imaging, and the good neurological outcome. © 2002 Elsevier Science B.V. All rights reserved

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

Bcl-2 and caspase-9 serum levels in children and adolescents with idiopathic epilepsy and active seizures

BACKGROUND: In the present study we investigated the levels of proapoptotic caspase-9 and antiapoptotic Bcl-2 proteins in the sera of children and adolescents with idiopathic epilepsy and tried to relate the findings to the patients' clinical parameters. METHODS: This retrospective study consisted of 118 children and adolescents with idiopathic epilepsy, categorized according to type and number of seizures, duration of the disease and the control of seizures and 30 age- and sex-matched controls. The relapse of seizures was taken into consideration. RESULTS: Mean serum level between Bcl-2 and caspase-9 was significantly higher only in Bcl-2 patients, compared to controls (P≤0.0001) and (P=0.987) respectively. Significant difference in Bcl-2 level was found among the different types of focal seizures. Caspase-9 level was statistically different in patients with two or more seizures per month compared to those with one seizure per month (P=0.048). No correlation was found between Bcl-2 and caspase-9 levels and age, gender, seizure frequency, total number of seizures and the duration of epilepsy. No significant difference was found in patients with and without drug treatment. CONCLUSIONS: Bcl-2 displays an association with apoptosis and highlights the potential of being a surrogate biomarker for active seizures and epilepsy. There is a significant difference in Bcl-2 serum level among the different types of focal seizures. Proapoptotic caspase-9 cannot act as a marker of active seizures and epilepsy. Caspase-9 serum level is increased acutely in controlled cases after a single relapse

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 T-1- and T-2 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 T-1- and high signal on T-2 weighted images. At present, the patient has some persistent neurologic signs. These findings suggest that both clinical and neuroradiologic findings may persist in children with acute encephalopathy with bilateral striatal necrosis following measles

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. To our knowledge, no previous similar case has been reported. These findings suggest that treatment with ganciclovir of infants with cytomegalovirus infection results only in cessation of virus shedding in the cerebrospinal fluid and urine without having a preventive effect on the future appearance of infantile spasms. This may be due to the irreversibility of previous brain damage from the cytomegalovirus infection and the virostatic nature of the drug

Serum total amylase, pancreatic amylase and lipase activities in epileptic children treated with sodium valproate monotherapy

To investigate by a prospective, self-controlled method, whether early treatment with sodium valproate (VPA) monotherapy has some effect on serum total amylase and particularly on its pancreatic isoenzyme and lipase activities in epileptic children. Serum total amylase, pancreatic amylase and lipase activities have been evaluated in 23 epileptic children, before and at 6 and 12 months of VPA monotherapy. All children remained without clinical symptoms of pancreatitis during the period of study. Serum pancreatic amylase activities were significantly decreased at 6 and 12 months of treatment with VPA, whereas serum total amylase and lipase activities did not show any significant changes at 6 or 12 months of treatment. Non-pancreatic isoenzyme activities of amylase were significantly higher at 6 and 12 months of treatment. Three patients (13%) had slightly elevated serum total amylase levels at 6 and 12 months of treatment. There was no significant correlation of serum pancreatic amylase levels or non-pancreatic isoenzyme levels of amylase with serum VPA levels at 6 and 12 months of treatment. Non-pancreatic amylase activities, probably derived from salivary glands, may be increased in children treated with VPA monotherapy. Measurement of serum pancreatic amylase and/or serum lipase activities is indicated in patients with increased serum total amylase levels but without clinical symptoms of pancreatitis and, furthermore, in patients with symptoms suggesting dysfunction of pancreas, in order to avoid unnecessary discontinuing of VPA. © 2006 Elsevier B.V. All rights reserved

Serum amylase, pancreatic amylase and lipase concentrations in epileptic children treated with carbamazepine monotherapy

Background: Serum total amylase and lipase activities have been determined in epileptic patients treated with polytherapy using enzyme-inducing anticonvulsant drugs; however, to our knowledge, serum total amylase, pancreatic amylase and lipase activities have not previously been determined in patients receiving carbamazepine monotherapy. The purpose of this study was to investigate by a prospective, self-controlled method, whether early treatment with carbamazepine monotherapy may alter serum total amylase, pancreatic amylase and lipase concentrations of epileptic children. Methods: Serum total amylase, pancreatic amylase and lipase activities have been determined in 18 epileptic children before and at 6 and 12 months of treatment with carbamazepine monotherapy. Serum gamma-glutamyltransferase activities were also determined. Results: Serum total amylase concentrations were significantly increased at 6 months of treatment (p=0.034), and serum nonpancreatic amylase concentrations were significantly increased at 6 (p=0.016) and 12 months of treatment (p=0.039), whereas serum pancreatic amylase and lipase concentrations did not significantly change at 6 or 12 months of treatment with carbamazepine monotherapy. Furthermore, serum gamma-glutamyltransferase concentrations were significantly increased at 6 (p=0.000) and 12 months of treatment (p=0.000) with carbamazepine monotherapy. There was no significant correlation between serum nonpancreatic amylase concentrations and serum gamma-glutamyltransferase or carbamazepine concentrations at 6 and 12 months of treatment with carbamazepine monotherapy. Conclusions: These findings indicate that nonpancreatic amylase concentrations may be increased in patients treated with carbamazepine monotherapy. Therefore, measurement of serum pancreatic amylase and lipase concentrations is suggested in epileptic patients receiving carbamazepine monotherapy with symptoms suggesting pancreatic dysfunction, so that unnecessary discontinuing of treatment with carbamazepine should be avoided. (C) 2004 Elsevier B.V. All rights reserved