A case of CDKL5 disorder: improved ADL by simple treatment strategy for intractable epileptic seizures.

CDKL5 gene mutations are the cause of symptomatic infantile epilepsy in some patients. Such patients present with partial seizures and characteristic hand movements that are often observed in patients with Rett syndrome. This clinical entity has recently been recognized as CDKL5 disorder. In a girl with CDKL5 disorder, who had been treated with combinatory therapy using many anti-epileptic drugs, we were able to control the seizures with valproate monotherapy. As a result of the monotherapy, the patient's seizures ameliorated temporarily and her quality of life improved. Some patients show improvement in seizures during the natural course of CDKL5 disorder. Therefore, there is a possibility that this was also the case in our patient. However, the patient and her family were satisfied with the improvement in quality of life after the withdrawal of the multi-drug combinatory therapy. Thus, it is important to select the best therapy for patients with intractable epilepsy through long term follow-up.

An infant with human parechovirus type 3 infection with a distinctive rash on the extremities.

Human parechovirus type 3 (HPeV3) is known to cause sepsis-like syndrome and meningoencephalitis in neonates and young infants. We herein report a neonatal case of sepsis-like syndrome due to HPeV3 infection, diagnosed using polymerase chain reaction (PCR), with a distinctive erythematous rash present mainly on the soles and palms that helped in the diagnosis of the disease. Combining the unique characteristics of rash and confirmation by PCR at the early stage of the disease led to the diagnosis of HPeV3, distinguishing it from sepsis and other critical disease conditions, and allowing for appropriate, rapid management.

Respiratory arrest at the onset of idiopathic childhood occipital epilepsy of Gastaut.

Occipital lobe epilepsy of childhood includes two entities: Panayiotopoulos syndrome in pre-school children, and idiopathic childhood occipital epilepsy of Gastaut (ICOEG) in school-age children. The typical initial manifestation of the former is vomiting, and that of the latter is visual hallucinations. Ictal cardiopulmonary arrest at initial presentation has been reported for Panayiotopoulos syndrome, but not for ICOEG. We document a 7-year-old previously healthy girl who experienced an acute elemental visual hallucination of seeing insects, followed by a new-onset generalized seizure. Upon arrival at the local hospital, she was unconscious and soon thereafter, developed respiratory arrest. She was resuscitated and initiated on mechanical ventilation. An electroencephalogram taken three days after seizure cessation showed frequent occipital spikes, consistent with the diagnosis of ICOEG. The sequence of acute elementary visual hallucination followed by a motor seizure, and then witnessed respiratory arrest illustrated occurrence of life-threatening autonomic involvement at initial onset in ICOEG. We speculate that the epileptic propagation from the occipital lobes eventually compromised the respiratory center in the brainstem. The possibility of occipital lobe epilepsy should be considered in school-age children presenting with acute visual hallucination followed by respiratory arrest. Such a presentation should prompt an urgent electroencephalogram and initiation of antiepileptic treatment if indicated.

Implication of the complement system in the induction of anti-glomerular basement membrane glomerulonephritis in WKY rats.

In WKY rats, administration of a small dose of anti-glomerular basement membrane antibody induces severe crescentic glomerulonephritis, which is characterized by infiltration of CD8-positive lymphocytes and monocytes/macrophages into the glomeruli with crescent formation. In this study, the involvement of the complement system was examined in the induction of this model. To deplete complement, cobra venom factor (CVF) was used. By a single injection with CVF at 24 h prior to the induction of this model, plasma C3 level from days 0-2 was less than 10% compared with pre-injection of CVF. Complement was almost depleted in the early phase of this model. No significant differences were observed in proteinuria and the frequency of glomeruli associated with the extracapillary crescentic lesions between the CVF-treated group and the control group. In addition, the number of monocytes/macrophages and CD8-positive lymphocyte infiltration into the glomeruli showed no significant differences between both groups. These results indicate that the possibility of complement system involvement is considered low in the induction of this model.