Patient: Male, 35-year-old Final Diagnosis: Late-onset ornithine transcarbamylase deficiency Symptoms: Disturbance of consciousness • headache • vomiting Medication: — Clinical Procedure: Genetic analysis Specialty: Genetics • Metabolic Disorders and Diabetics Objective: Rare disease Background: Ornithine transcarbamylase deficiency (OTCD) is an X-linked semi-dominant disorder, causing possible fatal hyperammonemia. Late-onset OTCD can develop at any time from 2 months after birth to adulthood, accounting for 70% of all OTCDs. Case Report: A 35-year-old man with chronic headaches stated that since childhood he felt sick after eating meat. Fourteen days before hospital admission, he began receiving 60 mg/day of intravenous prednisolone for sudden deafness. The prednisolone was stopped 5 days before hospital admission. Four days later, he was transferred to our hospital because of confusion. On admission, he had hyperammonemia of 393 µmol/L. Because he became comatose 7 hours after admission, and his serum ammonia increased to 1071 µmol/L, we promptly started hemodialysis. Because his family history included 2 deceased infant boys, we suspected late-onset OTCD. On day 2 of hospitalization, we began administering ammonia-scavenging medications. Because he gradually regained consciousness, we stopped his hemodialysis on day 6. After his general condition improved, he was transferred to the previous hospital for rehabilitation on day 32. We definitively diagnosed him with late-onset OTCD due to the low plasma citrulline and high urinary orotic acid levels found during his hospitalization. Conclusions: Clinicians should suspect urea cycle disorders, such as OTCD, when adult patients present with marked hyper-ammonemia without liver cirrhosis. Adult patients with marked hyperammonemia should immediately undergo hemodialysis to remove ammonia, regardless of causative diseases.

ObjectivesAbdominal pain is one of the most frequent chief complaints in primary care settings. The aim of the present study was to determine the positive likelihood ratios (PLRs) and negative likelihood ratios (NLRs) of the relationships between the sites of abdominal pain and the organs involved.DesignProspective observational study.SettingA single tertiary centre, a university hospital in Japan.ParticipantsA total of 2591 new outpatients visited the Department of General Medicine at a university hospital from April 2017 to March 2018. Of these, 326 patients aged ≥20 years with abdominal pain were enrolled.ResultsSites of abdominal pain were classified into 11 categories including nine different abdominal sections, ‘generalised abdomen’ and ‘site-indeterminate’. The PLRs between ‘right subcostal’ and ‘liver and biliary tract’; between ‘right subcostal’ and ‘musculoskeletal’ ; between ‘epigastric’ and ‘oesophagus, stomach and duodenum’; between ‘right or left flank’ and ‘urinary tract’; between ‘left flank’ and ‘dermatological’; and between ‘mid-lower’ and ‘intestinal’ ranged from 2.17 to 4.14. The PLRs between ‘epigastric’ and ‘urinary tract’; between ‘mid-lower’ and ‘liver and biliary tract’; between ‘periumbilical’ and ‘urinary tract’; and between ‘generalised abdomen’ and ‘oesophagus, stomach and duodenum’ were low, ranging from 0.17 to 0.25. The NLR ranged from 0.5 to 1.5, excluding the relationship between ‘left flank’ and ‘dermatological’.ConclusionThe presence of pain at right subcostal, epigastric, right or left flank and mid-lower sites might be useful for identifying the organs involved. Additionally, the presence of pain at mid-lower, epigastric, periumbilical and generalised abdominal sites might be helpful for denying the involvement of some organs. Some sites of abdominal pain can be indicative of the organs involved.Trial registration numberUMIN000037686

Patient: Male, 50Final Diagnosis: Proliferative fasciitis/myositisSymptoms: Facial swelling • fever • trismusMedication: —Clinical Procedure: BiopsySpecialty: PathologyObjective:Rare diseaseBackground:Proliferative fasciitis/myositis is a benign disease that can be treated conservatively. However, some patients are mistakenly treated surgically because of a misdiagnosis of the condition as a malignant tumor.Case Report:A 50-year-old Japanese man developed swelling in his left cheek 12 days before admission; he developed a fever and trismus 3 days later. He was admitted to our hospital because of worsening of his condition despite treatment with sitafloxacin for 5 days and needle-aspiration drainage. On admission, he had a fever of 38.1°C, swelling in his left cheek spreading to the lower jaw, and several dental caries. Although ceftriaxone and clindamycin were administered for 7 days because an odontogenic infection was suspected, his condition did not improve. T2-weighted magnetic resonance imaging of the facial muscles on Day 5 of hospitalization showed swelling and high-intensity signals in the left masseter, temporalis, and pterygoid muscles. Macroscopic findings from a biopsy of the left temporalis muscle performed on Day 17 showed white and thickened fascia. Histopathological examination revealed fibrous hyperplasia of the fascia, increased fibrous connective tissue between muscle fibers, and infiltration of inflammatory cells, providing not a definite but a compatible diagnosis of proliferative fasciitis/myositis. Beginning on Day 18, the patient’s fever lessened with gradual improvement of his facial swelling and trismus.Conclusions:It is imperative to include proliferative fasciitis/myositis as a possible diagnosis when patients present with facial swelling and trismus of unknown cause.

熊本大学病院地域医療・総合診療実践学寄附講座， 2) 飯塚病院集中治療科・総合診療科， 3) 九州大学病院総合診療科， 4) 佐賀大学医学部附属病院総 合診療部， 5) 新古賀病院総合診療科， 6) 熊本大学病院感染免疫診療部・感染制御部， 7) 熊本赤十字病院総合内科， 8) 九州大学病院病理診断科， 9) 九州大 学大学院医学研究院神経病理学， 10) 千葉大学医学部附属病院総合診療科， 11) 北播磨総合医療センター呼吸器内科， 12) 調布東山病院 118 th Scientific Meeting of the Japanese Society of Internal Medicine：CPC：A 31year-old man with hypothermia and acute hepato-renal failure after diagnosis of AIDS.

A 69-year-old man with left eye pain and visual impairment was diagnosed with syphilitic optic neuritis, who was successfully treated by penicillin. Although it is difficult to decide syphilis as the direct cause of optic neuritis, it is essential to diagnose syphilis in every patient with optic neuritis.