Acute encephalopathy with biphasic seizures and late reduced diffusion associated with sepsis.

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) develops in association with systemic as well as central nervous system (CNS) viral or bacterial infections. AESD is most often noted with influenza or human herpesvirus 6 infection in previously healthy infants. However, AESD has also been reported in an infant with developmental retardation and in a mentally and motor-disabled adolescent.

Mild Encephalopathy with Reversible Lesions in the Splenium of Corpus Callosum and Bilateral Cerebral Deep White Matter in Identical Twins.

Identical twin brothers developed mild encephalopathy at the age of 7.0 and 9.7 years (Patient 1) and 10.

Spontaneous Regression of Pulmonary Nodules Presenting as Epstein-Barr Virus-related Atypical Infectious Mononucleosis.

Background: Pulmonary nodules associated with Epstein-Barr virus (EBV)-related atypical infectious mononucleosis have rarely been described.

Observations: A 12-year-old Japanese boy, upon admission, revealed multiple small round nodules (a total of 7 nodules in 4 to 8 mm size) in the lungs on computed tomography. The hemorrhagic pharyngeal tonsils with hot signals on 18F-fluorodeoxyglucose-positron emission tomography-computed tomography were biopsied revealing the presence of EBV-encoded small nuclear RNA (EBER)-positive cells; however, no lymphoma was noted.

Sporadic Epstein syndrome with macrothrombocytopenia, sensorineural hearing loss and renal failure.

We report here a sporadic case of Epstein syndrome, one of the MYH9 disorders. A Japanese boy was first noted to have thrombocytopenia at 3 years of age. Blood smear showed giant platelets but no Döhle-like bodies in the neutrophils.

Neonatal Sweet's Syndrome Associated with Rectovestibular Fistula with Normal Anus.

Sweet's syndrome, characterized by fever and a painful erythematous rash with a dermal neutrophilic infiltrate, develops primarily due to paraneoplastic phenomena in adults. Sweet's syndrome is very rare in neonates. We report a Japanese female neonate (age <2 months), who developed Sweet's syndrome with episodes of perineal infection in association with congenital rectovestibular fistula with normal anus.

Corrigendum to "Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene".

[This corrects the article DOI: 10.1155/2014/279389.].

Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene.

An 8-year-old Japanese boy presented with a generalized convulsion. He had hypokalemia (serum K 2.4 mEq/L), hypomagnesemia, and metabolic alkalosis (BE 5.

Neuroglial disorders of central and peripheral nervous systems in a patient with Hirschsprung's disease carrying allelic SOX10 truncating mutation.

Background/purpose: Recent biologic studies have revealed that enteric neuroglial deficiency causes gut functional deterioration. We studied the central and peripheral nervous systems in a SOX10 mutation-associated Hirschsprung's patient who presented persistent gut functional disorders even after definitive surgery.

Methods: DNA sequences of all coding regions of the SOX10 gene (22q13) were determined using the direct DyeDeoxy Terminator Cycle method, and brain magnetic resonance images, nerve conduction velocities, and histopathology of the enteric nervous system were investigated for neurologic assessment.