Perampanel markedly improved clinical seizures in a patient with a Rett-like phenotype and 960-kb deletion on chromosome 9q34.11 including the .

Intractable epilepsy was successfully controlled using perampanel, an α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid-type glutamate receptor antagonist, in a 27-year-old woman who presented with a Rett syndrome-like phenotype and novel 960-kb deletion involving syntaxin-binding protein 1 on chromosome 9q34.11. Perampanel may be an effective antiepileptic drug for intractable epilepsy associated with  mutations.

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.

Background: Rett syndrome (RTT) is a characteristic neurological disease presenting with regressive loss of neurodevelopmental milestones. Typical RTT is generally caused by abnormality of methyl-CpG binding protein 2 (). Our objective to investigate the genetic landscape of -negative typical/atypical RTT and RTT-like phenotypes using whole exome sequencing (WES).

[A case of recurrence of breast cancer 36 years after mastectomy treated with endocrine and chemotherapy].

In 2001, a 72-year-old woman, who had undergone left mastectomy for breast carcinoma 36 years ago, was admitted because of dysphagia. Chest CT showed pleural effusion in the right side and no tumor in the breast. Chest drainage was performed.

[Chemotherapy-naïve advanced malignant fibrohistiocytoma presenting IVC syndrome case report].

The case was a 77-year-old male with swelling of his right leg. Physical examination revealed an ill-defined mass at RLQ. Computed tomography (CT) and 3 dimensional CT showed an 8-cm tumor on the IVC, partially replacing iliac vessels and invading the psoas muscle.

[A case of small cell carcinoma of the esophagus with SIADH].

The patient was a 63-year-old male admitted for further evaluation of the bleeding esophageal tumor. Endoscopic biopsy revealed small cell carcinoma. CT scan of the abdomen demonstrated nodular enlargement at the celiac axis.

Successful low-dose chemotherapy using vinblastine and methotrexate for the treatment of an ileoanal pouch mesenteric desmoid tumor: report of a case.

The purpose of this report was to describe the first known case of ileoanal pouch salvage by a low-dose regimen of vinblastine and methotrexate chemotherapy for the treatment of desmoid tumor arising from the mesentery of the ileoanal pouch in a patient who had undergone ileal pouch-anal anastomosis for familial adenomatous polyposis. Mesenteric desmoid tumor involving the ileoanal pouch in a 28-year-old female was treated with vinblastine and methotrexate biweekly for 12 months and monthly for 12 months in an outpatient unit. The desmoid tumor response to the treatment was assessed at routine intervals by physical examination and magnetic resonance imaging.