Po-Cheng Hung

Clinical Variants of Guillain-Barré Syndrome in Children

Guillain-Barré syndrome is characterized by acute progressive weakness, areflexia, and maximal motor disability that occur within 4 weeks of onset. Various clinical subtypes have been described since the original description of the syndrome. This study aimed to identify characteristics of clinical variants of Guillain-Barré syndrome through retrospective review of cases in Chang Gung Childrens Hospital from 2000-2010. Forty-three Guillain-Barré syndrome patients were evaluated based on clinical presentations and an electrodiagnostic study. The most frequent variant of Guillain-Barré syndrome was demyelinating polyneuropathy (67.4%), followed by acute axonal neuropathy (7.0%), Miller Fisher syndrome (7.0%), Bickerstaff brainstem encephalitis (7.0%), pharyngo-cervical-brachial variant (4.7%), and polyneuritis cranialis (4.7%). Follow-up revealed that 35 recovered satisfactorily, eight were persistently disabled, and none died during hospitalization. At the earliest stage, differentiating clinical variants from typical Guillain-Barré syndrome was difficult. Children with clinical variants of Guillain-Barré syndrome are more likely to manifest rapid onset from disease onset to nadir, increasing the severity of disability, cranial nerve involvement, urine incontinence, respiratory impairment, and need for ventilator support than in typical Guillain-Barré syndrome.

Risk factors and outcomes of childhood ischemic stroke in Taiwan

In this retrospective study, we reviewed the charts and collected clinical and radiographic data on children (age range, 1 month to 18 years) with symptoms and radiographic confirmation of ischemic stroke for the period of January 1996 to July 2006. Ninety-four children were enrolled. Eighty-eight had arterial ischemic stroke and six had sinovenous thrombosis. Twenty-nine percent of the children had seizures. Twenty-six percent had diffuse neurological signs and 76% had focal neurological signs. Risk factors included vascular disease (33%), infection (27%), metabolic disorders (18%), trauma (11%), prothrombotic states (13%), cardiac disease (10%), and mitochondrial disease (6%). Ten percent (n=9) had no identifiable cause. Twenty-two percent of the children had more than one risk factor. Anterior territory (70%) was more involved than posterior territory (18%) in arterial ischemic stroke. Unilateral infarctions were more common on the left side (51%) than on the right (24.5%). Neurological deficits were present in 45% (n=34/75) of the children; the most frequent deficit was motor impairment (24%). Seven children (9%) died in the acute stage. There were 12 children (16%) who had recurrent stroke and 8 children (8/12) who had underlying vascular disease. The vascular disease included moyamoya disease (5), CNS lupus (1) and ill-defined vasculopathy (2). The etiology pattern in Taiwan was different from that in Western countries. Vascular disease was a significant risk factor for recurrence in childhood ischemic stroke.

Medulloblastoma or cerebellar dysplastic gangliocytoma (Lhermitte-Duclos disease)?

Dysplastic cerebellar gangliocytoma is a rare benign tumor associated with specific neuroimaging findings of abnormal laminated or folial pattern in the posterior fossa. Some authors thus proposed that it could be diagnosed by neuroimaging studies alone. We encountered a patient with medulloblastoma in which the neuroimaging findings mimicked those of dysplastic gangliocytoma. In patients with a posterior fossa tumor suggestive of a dysplastic gangliocytoma on neuroimaging studies, a pathologic confirmation is necessary.

Seizures in childhood ischemic stroke in Taiwan

In this retrospective study, we collected clinical and radiographic data on children (age range, 1 month to 18 years) with symptoms and radiographic confirmation of seizure after ischemic stroke for the period of January 1996 to July 2006. Thirty-nine out of 94 children with ischemic stroke had poststroke seizures. Thirty-three out of 39 children with poststroke seizures had new onset seizures but only data of 28 were available. Infection was the most common etiology in the early poststroke seizure group (52.4%) but not in the late poststroke seizure group (0%). Infarction involving arterial ischemic stroke of anterior circulation were the most common in both the early poststroke seizure (61.9%) and the late poststroke seizure group (57.1%). Epilepsy was the most common sequelae in both the early poststroke seizure (38.1%) and late poststroke seizure group (100%). Children who had initial focal neurological sign (100% vs. 38.1%; P=0.007) or the focal cortical dysfunction on EEG (85.7% vs. 33.3%; P=0.029) were prone to develop late poststroke seizures. Late poststroke seizures had a high risk of developing poststroke epilepsy (100% vs. 38.1%; P=0.007). We conclude that seizures commonly occur in childhood ischemic stroke. Most poststroke seizures developed at an early stage. Infection was the most common etiology that caused early poststroke seizures in childhood ischemic stroke. Initial focal neurological signs and focal cortical dysfunction on EEG are risk factors for developing epilepsy. Poststroke seizures did not affect mortality, but there was a significant difference in normal outcome and epilepsy between those with or without poststroke seizures.

Anti-N-Methyl-d-Aspartate Receptor Encephalitis in Taiwan—A Comparison Between Children and Adults

BACKGROUND Since the discovery of antibodies against the N-methyl-D-aspartate receptor in 2007, anti-N-methyl-D-aspartate receptor encephalitis is increasingly recognized worldwide. We compare the clinical features of adults and children with this disorder in Taiwan. METHODS Patients admitted to Chang Gung Memorial Hospital and Chang Gung Childrens Hospital and those who were referred from other institutions because of unknown encephalitis from 2009 to 2013 were enrolled, and their clinical features were analyzed. Data on cases from a review of the literature were also included in the analysis. RESULTS Twelve patients (10 females) aged between 7 years and 28 years with anti-N-methyl-D-aspartate receptor encephalitis were identified. Six patients (50%) were <18 years old, one of whom was male and three of whom had an underlying tumor. Overall, 91.6% of the patients presented with mood, behavioral, or personality changes; 91.6% developed seizures; 100% had stereotyped movements; 83.3% had autonomic instability; and 66.7% had hypoventilation. Responses to immunotherapy were slow and variable. Overall, 63.6% of the patients had a substantial recovery after immunotherapy or removal of the tumor, and one patient experienced neurological relapses. There were no significant differences in clinical manifestations between children and adults. CONCLUSIONS Anti-N-methyl-D-aspartate receptor encephalitis is increasingly recognized in Taiwan. It is characterized by its clinical features, predominantly affects females with and/or without an ovarian tumor, and it is a potentially treatable disorder. It is important for neurologists to be familiar with the clinical presentations of the disease in children and young adults.

Pulmonary hypertension in a child with mitochondrial A3243G point mutation

Mitochondrial diseases are a group of disorders caused by pathologic dysfunction of the mitochondrial respiratory chain that present with a wide range of clinical expression. Cardiorespiratory complications have previously been described in association with mitochondrial disease; however, pulmonary hypertension has rarely been reported. Pulmonary hypertension is characterized by elevated pulmonary arterial pressure and secondary right ventricular failure. It is a life-threatening condition with a poor prognosis if untreated. We report a case of 3-year-4-month-old boy who had mitochondrial A3243G point mutation with pulmonary hypertension. The unusual features of our case strengthen the concepts of pulmonary hypertension should be considered as another potential manifestation of mitochondrial disease.

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.

Late-Onset Pyridoxine-Dependent Seizures: Report of Two Cases

We report two cases of late-onset pyridoxine-dependent seizures with age onset at 14 and 9 months, respectively. Their intractable seizures were refractory to diazepam, phenobarbital, phenytoin, carbamazepine, valproic acid, and adrenocorticotropic hormone, but stopped soon after intravenous administration of pyridoxine. The psychomotor development was retarded in both cases. Pyridoxine dependency is one of the few treatable intractable seizures in infancy. It should always be kept in mind, even in patients with intractable seizures beyond the neonatal period, regardless of previous patterns of electroencephalography and seizure types and responsiveness to the conventional anticonvulsants.

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.