Schizencephaly in children: A single medical center retrospective study.

BACKGROUND: The aim of this study was to evaluate the clinical, and neuroimaging features, outcomes, and other associated systemic disorders in children with schizencephaly at a single medical center in Taiwan. METHODS: We retrospectively reviewed the medical records and magnetic resonance images (MRI) of children with schizencephaly between January 2000 and December 2014. The MRI findings of schizencephaly were recorded along with the presence of associated cerebral disorders. Clinical, electroencephalographic and additional systemic disorders were also recorded. RESULTS: A total of 21 patients (13 males and 8 females) were included in the study. According to the location of schizencephaly, the patients were classified into two groups: unilateral (n = 16) and bilateral (n = 5). The majority of the patients with neurological deficits were detected before 1 year of age, especially in bilateral clefts. The most common initial presentation was hemiparesis in unilateral schizencephaly, and seizures in bilateral schizencephalies. Ventriculomegaly was the most common associated cerebral disorder, and the most common additional systemic disorders included congenital heart disease, hydronephrosis, and strabismus. Seventeen patients suffered from epileptic seizures with generalized tonic-clonic seizures being the most common. Eight patients developed refractory epilepsy. The majority of the patients had motor deficits, intellectual disabilities, and language deficits, especially in bilateral clefts. CONCLUSIONS: This study demonstrates that the clinical features of schizencephaly vary widely, with their severity closely related to the cleft. Determining the type, size, and extent of schizencephaly is useful to plan management and predict the prognosis.

Clinical and neuroimaging findings in children with gray matter heterotopias: A single institution experience of 36 patients.

OBJECTIVE: To describe the clinical spectrum and neuroimaging features of childhood gray matter heterotopias in a single tertiary hospital in Taiwan. METHODS: We retrospectively reviewed the medical records and magnetic resonance images (MRI) of 36 patients with gray matter heterotopias, 19 females and 17 males, between July 1999 and June 2014. The MRI morphologic findings of gray matter heterotopias were recorded along with the presence of associated cerebral malformations. The clinical, electrophysiological and associated systemic malformation data were also recorded. RESULTS: A total of 36 patients were included in the study. Their ages ranged from 1 month to 18 years with a mean age of 3 years 6 months. According to the location of gray matter heterotopias, patients were classified into two groups: periventricular (26) and band (10). The phenotypic spectrum in our population differed from that described previously. In the periventricular group, additional cerebral malformations were found in 18/26 (69%) and systemic malformations in 14/26 (54%). In the band group, additional cerebral malformations were found in 5/10 (50%) and systemic malformations in 2/10 (20%). The majority of patients had developmental delay and intellectual deficit. Twenty-two patients suffered from epileptic seizures with 12 developing refractory epilepsy. CONCLUSIONS: In periventricular heterotopias, the most common associated cerebral malformation was ventriculomegaly, followed by agenesis of corpus callosum. Congenital heart disease was the most common additional systemic malformation. However, the most common associated cerebral malformation was pachygyria in band form. The majority of patients had developmental delay, intellectual deficit, especially in band heterotopias.

Plasmapheresis as adjuvant therapy in Stevens-Johnson syndrome and hepatic encephalopathy.

Stevens-Johnson syndrome (SJS) is a severe idiosyncratic reaction, most commonly triggered by medications, which is characterized by fever and mucocutaneous lesions, leading to necrosis and sloughing of the epidermis. Aside from skin and mucosal manifestations, SJS may also compromise heart, liver, kidney, lung, and gastrointestinal tract. Although cholestatic liver disease has been reported to occur in SJS, hepatic encephalopathy (HE) as a delayed complication has never been reported. We report a 4-year-old female child with anticonvulsant-induced SJS complicated by HE who was completely cured with a combination of systemic corticosteroid, intravenous immunoglobulin (IVIG), and plasmapheresis therapy. We suggested that plasmapheresis may be used as an adjuvant therapy for SJS with HE.

Cervical spinal cord compression in a child with cervicofacial actinomycosis.

Actinomycosis is a rare, chronic, suppurative, and slowly progressive granulomatous disease caused by a group of filamentous gram-positive anaerobic bacteria belonging to the normal flora of the oral cavity, gastrointestinal, and genitourinary tracts. It may involve several organs; however, spinal cord compression has rarely been reported. We report a 7-year-3-month-old girl who suffered from neck pain with restricted movement, poor appetite, body weight loss, mild right limbs weakness, and a non-tender neck mass. Histopathology of the neck mass revealed sulfur granules of actinomyces. Since actinomycosis was strongly suspected, she was treated with high dose of parenteral penicillin G followed by oral penicillin with complete recovery. The unusual features of our case suggested that actinomycosis should be considered as a differential diagnosis of neck mass and cervical spinal cord compression.

Acute disseminated encephalomyelitis in children: a single institution experience of 28 patients.

The aim of this study is to describe the clinical, laboratory, and neuroimaging features, treatment and outcome of acute disseminated encephalomyelitis (ADEM) in Taiwanese children to compare with two series from United States of America and Japan. We retrospectively reviewed the medical records and magnetic resonance images of 28 children, 23 boys and 5 girls, with ADEM between January 2001 and December 2009. Their mean age at disease onset was 6 years 9 months. Twenty four children experienced a prodromal illness. There was no special seasonal distribution in our patients. They presented mostly with impaired consciousness and headache. Cerebrospinal fluid samples of 21 patients were analyzed and none showed intrathecal oligoclonal bands. Magnetic resonance imaging showed variable findings: lesions with abnormal signal changes frequently found in the subcortical white matter of frontal and parietal lobes. No patient showed cortical gray matter involvement. We also found a high rate of deep gray matter involvement including thalami and basal ganglia. Treating with steroids was usually associated with a rapid recovery and both intravenous high dose methylprednisolone and dexamethasone had the same effect. All patients survived. Twenty three patients recovered completely with only mild sequelae in the remaining five children.

Moyamoya syndrome in a child with Noonan syndrome.

Previous studies have rarely described the association between Noonan syndrome and moyamoya syndrome. Although most affected children with moyamoya exhibit ischemic symptoms, headache is also a frequent symptom. We report the case of a 9-year-old girl with Noonan syndrome and moyamoya syndrome that manifested as recurrent headaches without history of transient ischemic attack. Brain magnetic resonance imaging and magnetic resonance angiography revealed bilateral moyamoya syndrome and mild ventriculomegaly with focal encephalomalacia at right peritrigonal region. Disruption of vascular development during the prenatal stage has been proposed as the cause of cerebrovascular disease in Noonan syndrome. However, genetic factors may also contribute.

Tuberous sclerosis complex with multiple intracranial aneurysms in an infant.

Tuberous sclerosis complex is a protean, genetically determined disease that may involve any organ or tissue and lead to a great number of signs and clinical features. Occlusive vascular disease and aneurysms of the cerebral and visceral arteries were described in these patients. We report on an 8-month-old boy who manifested tuberous sclerosis complex with multiple intracranial aneurysms involving the internal carotid artery and middle cerebral artery. The unusual features of our case favor the concepts of the presence of an arterial dysplasia in tuberous sclerosis complex, and of developmental defects as the cause of intracranial aneurysms.

Spinal intramedullary abscess with an epidermoid secondary to a dermal sinus.

Congenital dermal sinuses are relatively uncommon, and result from abnormal neurulation. A lack of awareness about this problem causes these patients to manifest significant mortality and morbidity. Spinal intramedullary abscesses are rare and potentially devastating lesions. Intraspinal epidermoids are also unusual lesions. We report on a boy, aged 1 year and 5 months, who had a lower-back hairy hemangioma at birth without further evaluation, and dermal sinus tract without surgical intervention at age 7 months. He also manifested rapidly progressive paraplegia with urine and stool retention, and was found to have a spinal intramedullary abscess with an epidermoid as the result of a dermal sinus. This patient illustrates the importance of the recognition and evaluation of skin markers, and of an awareness and complete neurological assessment of all patients with a congenital dermal sinus, because of the potential for intradural extension and a frequent association with other dysraphic abnormalities. Prophylactic surgery is indicated to prevent dangerous and recurrent infections of the central nervous system.

Peritumoral edema of meningiomas and metastatic brain tumors: differences in diffusion characteristics evaluated with diffusion-tensor MR imaging.

INTRODUCTION: We prospectively compared the fractional anisotropy (FA) and mean diffusivity (MD) of the peritumoral edema of meningiomas and metastatic brain tumors with diffusion-tensor magnetic resonance (MR) imaging. METHODS: The study protocol was approved by the local ethics committee, and written informed consent was obtained. Preoperative diffusion-tensor MR imaging was performed in 15 patients with meningiomas and 11 patients with metastatic brain tumors. Regions of interest (ROI) were placed in the peritumoral edema and normal-appearing white matter (NAWM) of the contralateral hemisphere to measure the FA and MD. The FA and MD ratios were calculated for each ROI in relation to the NAWM of the contralateral hemisphere. Changes in peritumoral MD and FA, in terms of primary values and ratios, were compared using a two-sample t-test; P < 0.05 was taken as indicating statistical significance. RESULTS: The mean MD values (x10(-3) mm(2)/s) of the peritumoral edema for metastases and meningiomas, respectively, were 0.902 +/- 0.057 and 0.820 +/- 0.094, the mean MD ratios were 220.3 +/- 22.6 and 193.1 +/- 23.4, the mean FA values were 0.146 +/- 0.026 and 0.199 +/- 0.052, and the mean FA ratios were 32.3 +/- 5.9 and 46.0 +/- 12.1. All the values were significantly different between metastases and meningiomas (MD values P = 0.016, MD ratios P = 0.006, FA values P = 0.005, FA ratios P = 0.002). CONCLUSION: The peritumoral edema of metastatic brain tumors and meningiomas show different MD and FA on diffusion-tensor MR imaging.

Lobar holoprosencephaly: prenatal MR diagnosis with postnatal MR correlation.

Holoprosencephaly is a congenital anomaly characterized by lack of cleavage of the prosencephalon. Although, relatively rare, it is the most common anomaly that involves both the brain and the face. Prenatal diagnosis of this anomaly using ultrasonography, particularly of the less severe forms, is difficult. Magnetic resonance imaging has recently become an important complement to US in prenatal diagnosis of CNS anomalies. We herein report a patient in whom, at 23 weeks of gestation, US suggested agenesis of the corpus callosum and in whom, at 24 weeks of gestation, MRI correctly diagnosed lobar holoprosencephaly, which was confirmed by a postnatal MRI at 3 weeks of age.