Hemimegalencephaly in a patient with coexisting trisomy 21 and hypomelanosis of Ito.

A male infant with trisomy 21 simultaneously showed clinical features of hypomelanosis of Ito and hemimegalencephaly, with related intractable epileptic seizures. The epileptic seizures were refractory to conventional antiepileptic drugs and persisted until the patient underwent functional hemispherotomy. It is well known that patients with hypomelanosis of Ito may also have cortical dysplasia and hemimegalencephaly and that approximately half of these patients have chromosomal abnormalities. However, to our knowledge, there is no previous report of a patient with trisomy 21 associated with hemimegalencephaly. Here, we describe a rare case of coexisting trisomy 21 and hypomelanosis of Ito, associated with hemimegalencephaly.

[Three pediatric cases of group A coxsackievirus-associated encephalitis/encephalopathy].

We report three pediatric cases of group A coxsackievirus-associated encephalitis/encephalopathy. A 4-year-old girl with coxsackievirus A6 infection presented with an exanthem on her upper body on the fourth day of fever. The following day, she developed an episode of convulsions, and subsequently experienced sudden cardiopulmonary arrest. A head computed tomography scan revealed severe brain edema. Two patients with neurological sequelae had initially presented with status epilepticus that required intravenous barbiturate treatment. Both cases had high-signal-intensity lesions on their diffusion-weighted brain magnetic resonance images. A 5-year-old girl with subcortical white matter lesions was diagnosed with acute encephalopathy with febrile convulsive status epilepticus, and a 2-year-old boy with bilateral hippocampal lesions was diagnosed with parainfectious limbic encephalitis. These findings indicate that group A coxsackievirus is a causative agent of pediatric encephalitis/encephalopathy; moreover, the prognosis may be poor in some cases.

Early infantile manifestations of incontinentia pigmenti mimicking acute encephalopathy.

OBJECTIVE: We retrospectively reviewed six patients with incontinentia pigmenti (IP) who had encephalopathic manifestations during early infancy. METHODS: We enrolled six patients who met the following criteria from the mailing list of the Annual Zao Conference: (1) diagnosis of IP; (2) encephalopathic manifestations with reduced consciousness and clusters of seizures by 6 months of age; and (3) no evidence of central nervous system infection or metabolic derangement. RESULTS: The onset of the encephalopathic events was within the first 2 months of life in all but one patient. All had clusters of focal clonic seizures. The duration of seizures was typically 5 min. The seizures ceased within 5 days in all patients. Various degrees of reduced consciousness were observed in association with the frequent seizures. Diffusion-weighted imaging during the acute phase showed reduced water diffusion in the subcortical white matter, corpus callosum, basal ganglia, thalami, and internal capsule in two patients. Scattered subcortical white matter lesions were observed on fluid-attenuated inversion-recovery images in two patients. CONCLUSIONS: The encephalopathic manifestations in patients with incontinentia pigmenti were characterized by seizure clusters and reduced consciousness, albeit of relatively short duration. Magnetic resonance imaging abnormalities were predominant in the subcortical areas in most patients.

Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination.

A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months. Electroencephalograms revealed hypsarrhythmia, and magnetic resonance imaging identified delayed myelination and a hypoplastic corpus callosum. Various antiepileptic treatments, including adrenocorticotropic hormone therapy, were ineffective, although transient seizure control was achieved by a ketogenic diet and clorazepate dipotassium. However, seizures with epileptic foci at the bilateral posterior temporal areas re-aggravated and remained intractable; severe psychomotor delay persisted. This case indicated that infantile spasms in CFC syndrome can be difficult to control and may be accompanied by severe psychomotor retardation and abnormal myelination.