Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene.

Autosomal recessive cerebellar ataxias comprise many types of diseases. The most frequent autosomal recessive cerebellar ataxias are Friedreich ataxia, but other types are relatively rare. We encountered a consanguineous family with two cases of late-onset cerebellar ataxia with neuropathy. We performed whole-exome sequencing in one patient and confirmed by Sanger sequencing in other family members. Neurological examination revealed cerebellar ataxia, hand tremor, and neck dystonia, distal muscle wasting, and diminished tendon reflexes. The patients had no conjunctival telangiectasia or immunodeficiency. Blood examination revealed slightly elevated α-fetoprotein. Brain MRI demonstrated marked cerebellar atrophy and mild brainstem atrophy. The electrophysiologic study and nerve biopsy showed axonal neuropathy. Whole-exome sequencing revealed a novel homozygous missense variant (NM_000051.3: c.496G > C) in the ataxia-telangiectasia mutated gene. This homozygous variant was found in another patient, co-segregated within the family members-this variant results in aberrant splicing (skipping exon 5) on RT-PCR analysis. We identified the ataxia-telangiectasia mutated variant in an adult, late-onset autosomal recessive cerebellar ataxias family. We should consider ataxia-telangiectasia even in late-onset autosomal recessive cerebellar ataxias without telangiectasia or immunodeficiency.

A Pancreatic Collision Tumor Comprising Mantle Cell Lymphoma and Adenocarcinoma: A Case Report and Literature Review.

A collision tumor is a rare clinical condition where two different tumors occur synchronically within a lesion. Pancreatic collision tumors with mantle cell lymphoma (MCL) are extremely rare and have only been reported in one case to date. We herein report an elderly patient with MCL and adenocarcinoma of the pancreas with Ann Arbor stage IV and Union for International Cancer Control stage IIB, respectively. The patient received palliative therapy and died 23 months after the diagnosis. Further research and case studies are required to investigate whether or not MCL-derived cyclin D1 overexpression affects the occurrence/growth of adenocarcinomas.

Feasibility of Support by Family Practitioners in Reducing Colorectal Cancer-Related Death among Outpatients Who Have Not Undergone Colorectal Cancer Screening.

We aimed to clarify the effectiveness of interventions in outpatients who did not undergo colorectal cancer (CRC) screening. From September 2012 to August 2013, we conducted a project, which showed that the immunological fecal occult blood test (FOBT) was actively recommended for outpatients who were ≥40 years of age, attended the Marumori Hospital regularly, and were not screened for CRC in the previous two years. We evaluated the detection rate of CRC and the disease specific survival ratio in February 2021 among patients with positive FOBT results during the retrospective cohort study. Overall, 388 (91%) out of the 425 outpatients submitted their stool samples. Among 388 outpatients, 66 tested positive for FOBT. While both the positive rate of FOBT and the detection rate of CRC (17% and 0.77%, respectively) were significantly higher than those in the nationwide administrative examination (5.7% and 0.13%, respectively) (p < 0.05), there was no statistically significant difference in the detection rate, compared with the group aged 65 years and older in the nationwide administrative examination. The 7-year CRC-specific survival ratio was 98.5%. Active promotion of FOBT at primary care institutions for outpatients who did not undergo CRC screening may contribute to reducing the frequency of CRC-related deaths.

Peculiar Unpleasant Dysgeusia as the Sole Initial Symptom of Guillain-Barré Syndrome.

Dysgeusia is rare in Guillain-Barré syndrome, particularly as the initial symptom. We herein report the case of a 59-year-old woman who presented with only dysgeusia as the initial symptom of Guillain-Barré syndrome, followed by gradually worsening muscle weakness and bilateral sensory disturbances in the extremities. Her dysgeusia was so unpleasant that she could not eat anything, so she received nasogastric tube feeding without dysphasia. We speculate that the dysgeusia in our patient was mainly caused by inflammation of the chorda tympani nerves. Guillain-Barré syndrome should be considered a possible cause of acute dysgeusia.