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Background Primary ciliary dyskinesia (PCD) is a rare genetic disorder. Although the genetic tests and new diagnostic algorithms have recently been recommended, clinical signs and electron microscope (EM) findings have historically been the mainstays of diagnosis in Asia. To characterize PCD previously reported in Japan, we conducted a systematic review and meta-analysis. Methods A search using MEDLINE, EMBASE, and Japana Centra Revuo Medicina (in Japanese) databases was carried out to identify articles reporting PCD, Kartagener syndrome, or immotile cilia syndrome in Japanese patients and published between 1985 and 2015. Results After excluding duplication from 334 reports, we extracted 316 patients according to the criteria. Diagnosis was most frequently made in adulthood (148 patients [46.8%] ≥ 18 years old, 24 patients [7.6%]

We herein report the case of a 25-year-old man who was referred to our hospital due to acute cytomegalovirus (CMV) colitis. The initial blood tests showed that the patient had concurrent primary human immunodeficiency virus (HIV) infection and severe thrombocytopenia. Raltegravir-based antiretroviral therapy (ART) was initiated without the use of ganciclovir or corticosteroids and resulted in a rapid clinical improvement. Platelet transfusions were only necessary for a short period, and subsequent colonoscopy revealed a completely healed ulcer. This case implies that ART alone could be effective for treating severe thrombocytopenia during primary HIV and CMV coinfection.

We herein describe the case of a 77-year-old woman with acquired factor X deficiency that was likely caused by atypical amyloidosis. The patient developed severe gastrointestinal bleeding as a result of a significant decrease of factor X activity. Neither proteinuria nor diarrhea was observed as an initial manifestation. Although a bone marrow examination revealed direct fast scarlet-positive extracellular deposits, they did not exhibit red-to-green dichroism under polarized light. Immunofluorescence microscopy showed that the fibrillar proteins were positive for CD138 but negative for β2-microglobulin or amyloid A antibodies. These atypical pathological features of immunoglobulin light chain-amyloidosis in this patient might be related to its unique clinical presentation.

Medulloblastomas usually cause cerebellar ataxia and acute hydrocephalus owing to their increase in size. Cerebellar hemorrhage is an extremely rare initial clinical presentation of medulloblastoma. Herein, we report a case of medulloblastoma in an 8-year-old girl who presented with initial cerebellar intratumoral hemorrhage. The patient initially presented with mild headache;the differential diagnosis by using the initial computed tomography and magnetic resonance images was difficult, as bleeding from a cerebellar vascular malformation(cavernous angioma or arteriovenous malformation)was considered more likely. Hydrocephalus or typical findings indicative of medulloblastoma were not observed. We initially only observed the patient at another institution because the hematoma was relatively small(1.5×1×1cm). After follow-up imaging for pathological diagnosis, surgical removal was performed at our institute 49 days after the hemorrhage was observed. Complete tumor removal was achieved, and the histopathological diagnosis was medulloblastoma. The patient received whole brain and spinal irradiation(23.4Gy;posterior fossa local:50.4Gy)and chemotherapy(cyclophosphamide, 1,000mg/m2/day on day 1;vincristine, 1.5mg/m2/day on day 1;etoposide, 100mg/m2/day on days 1-3;cisplatin, 90mg/m2/day on day 2). No recurrences or neurological deficits were observed during a 2-year follow-up. This was a rare case of medulloblastoma presenting as cerebellar hemorrhage. Cerebellar medulloblastoma is among the common pediatric brain tumors;therefore, it should be diagnosed accurately and quickly.