Hitoshi Awaguni, Jun Shinozuka, Shin-ichiro Tanaka, Sayaka Kadowaki, Shigeru Makino, Rikken Maruyama, Yosuke Shigematsu, Kenji Hamaoka, and Shinsaku Imashuku
Pediatric Reports, Vol 10, Iss 1 (2018)
Acute encephalopathy with biphasic seizures and reduced diffusion, AESD, spinal muscular atrophy, Streptococcus sanguinis, sepsis, Medicine, Pediatrics, and RJ1-570
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. Here, we report the case of a 4-year-old female with significant development delay due to spinal muscular atrophy, who developed AESD during Streptococcus sanguinis sepsis with no apparent CNS infection. Although the patient had extremely high serum procalcitonin (45.84 ng/mL, reference;
Junko Tahara, Jun Shinozuka, Hitoshi Awaguni, Shin-ichiro Tanaka, Shigeru Makino, Rikken Maruyama, and Shinsaku Imashuku
Pediatric Reports, Vol 8, Iss 3 (2016)
Encephalopathy, Splenial lesion, Corpus callosum, Identical twins., Medicine, Pediatrics, and RJ1-570
Identical twin brothers developed mild encephalopathy at the age of 7.0 and 9.7 years (Patient 1) and 10.7 years (Patient 2). Patient 1 had influenza A at the time of his second episode, but triggering agents were not evident at the first episode. The triggering agents in Patient 2 were unclear. The neurological features of both patients included transient facial numbness, left arm paresis, dysarthria, and gait disturbance. Diffusion-weighted images from magnetic resonance imaging showed high signal levels at the splenium of corpus callosum and in the bilateral cerebral deep white matter. These results are characteristic of mild encephalitis/encephalopathy with a reversible isolated splenium of corpus callosum lesion. All three episodes were treated with a methylprednisolone pulse. Acyclovir was also administered to Patient 2 and to Patient 1 during his first episode. Patient 1 received an anti-influenza agent and intravenous immunoglobulin during his second episode. Both patients recovered completely without sequelae. Genetic factors, which may predispose identical twins to develop encephalopathy, are discussed.
Jun Shinozuka, Hideki Tomiyama, Shin-ichiro Tanak, Junko Tahara, Hitoshi Awaguni, Shigeru Makino, Rikken Maruyama, and Shinsaku Imashuku
Pediatric Reports, Vol 7, Iss 2 (2015)
Sweet’s syndrome, neonate, rectovestibular fistula, Medicine, Pediatrics, and RJ1-570
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
Shigeru Makino, Toshihiro Tajima, Jun Shinozuka, Aki Ikumi, Hitoshi Awaguni, Shin-ichiro Tanaka, Rikken Maruyama, and Shinsaku Imashuku
Case Reports in Pediatrics, Vol 2014 (2014)
Pediatrics and RJ1-570
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 5.7 mmol/L). In addition, his plasma renin activity was elevated. He was tentatively diagnosed with epilepsy on the basis of the electroencephalogram findings and was treated by potassium L-aspartate and carbamazepine to control the hypokalemia and seizure, respectively. However, a year later, the patient continued to have similar abnormal laboratory data. A presumptive diagnosis of Gitelman syndrome (GS) was then made and the patient’s peripheral blood mononuclear cells were subjected to sequence analysis of the SLC12A3 gene, which encodes a thiazide-sensitive sodium-chloride cotransporter. The patient was found to have compound heterozygous mutations, namely, R642H inherited from his father and R642W inherited from his mother. Thus, if a patient shows persistent hypokalemia and metabolic alkalosis, GS must be considered, even if the patient exhibits atypical clinical symptoms.