Germ cell tumors (GCTs) originate from embryonic cells at various stages of maturation and account for approximately 3% of all brain tumors, with Asian countries having a higher incidence than Europe and the United States. GCT-onset is usually during adolescence, accounting for about a quarter of all childhood brain tumors. They occur in the pineal and suprasellar regions, with > 60% of suprasellar tumors known to cause enuresis, decreased visual acuity, short stature, and premature puberty. We report the case of an atypical suprasellar GCT in a patient with atypical and variable symptoms, such as excessive daytime sleepiness and learning disabilities. The patient was a 14-year-old girl, who had no previous history. At X-3 years, she began getting up at night to urinate. At X-2 years, she started drinking 2-3 L of water a day. Several months ago, her homeroom teacher began noticing the patient falling asleep in class. Her grades dropped, and her height was noted on a physical exam. Based on careful interview and detailed examination, intracranial lesions were suspected, and despite the patient's diverse symptoms, magnetic resonance imaging was performed relatively quickly, which allowed for early diagnosis. Although the patient was an adolescent in transition between pediatric and adult medicine, we were able to follow up with the Department of Hypertension and Endocrinology and Department of Neurosurgery at our hospital from diagnosis to treatment. Even for school-aged children, a medical history from both the patient and their family can provide clues for diagnosis.

We encountered a female with citrine deficiency (CD) that was initially diagnosed with conjugated hyperbilirubinemia because of steatorrhea with poor weight gain at two months of age at a medical check-up for nursery school. Her newborn mass screening results were negative. Because a blood test revealed an increase in hepatobiliary enzymes, she was referred to our hospital. Biliary atresia was negative on intraoperative cholangiographical findings, and CD was diagnosed based on plasma amino acid analysis performed at admission. Because galactosemia was also observed, galactose-free milk was started, and medium-chain triglyceride (MCT) oil, fat-soluble vitamins, and biliary drugs were administered. Her symptoms, including failure to thrive, improved. Infantile-onset CD is often diagnosed because of jaundice and gray stool, as suggested by the stool color card, which is generally used in Japan within the second half of the first year of life. However, some cases have spontaneous improvement of these characteristic symptoms without any medical approach followed by adult-onset type II citrullinemia after adolescence. In addition to the 1- and 3- to 4-month-old medical examinations, poor weight gain and changes in stool color at the time of consultation in early infancy were important for the early diagnosis of CD in this case.

A 7-year-old girl with no notable medical history presented with a chief complaint of pain in the right lower extremity. She was hospitalized based on a diagnosis of cellulitis. An interview at the time of hospitalization revealed that she was experiencing polydipsia, polyuria, and poor weight gain for 1 month.

Based on the possibility of diabetes, we performed thorough examinations, and the patient was diagnosed as having diabetes. She had a high keton level, but she did not develop acidosis.

It has been reported that the time to diagnosis affects the incidence of diabetic ketoacidosis (DKA) in first-time cases of childhood-onset type 1 diabetes, and the presence or absence of DKA is associated with the prognosis of type 1 diabetes. Most cases of childhood-onset type 1 diabetes are diagnosed by mass urinalysis or DKA development; however, diagnosis may be delayed if patients present with an atypical complaint, as in our case. Because polydipsia/polyuria and weight loss are observed in 90% and 50% of children with type 1 diabetes, respectively, interviews regarding these symptoms can be helpful in diagnosing other cases.

We experienced a boy aged 1 year and 8 months with trisomy 21 who could receive home medical care through high-flow nasal cannula (HFNC) and multidisciplinary collaboration. At age 8 months, he underwent the first emergency admission due to acute respiratory infection. He was originally pointed out about his stridor. At age 11 months, he was diagnosed with pharyngomalacia and laryngotracheal deformities by bronchoscopy. We administered noninvasive positive pressure ventilation (NPPV); however, he required six emergency admissions due to respiratory insufficiency by the age of 1 year and 8 months. He could not tolerate NPPV, and his parents experienced difficulty and fatigue in home medical care. Therefore, we changed NPPV to HFNC, after which he became acceptable to the oxygen therapy, and a relaxing positioning administered by the physiotherapist was also useful for reducing his breathing effort. Smooth transition to home medical care can also be achieved by the cooperation of multiple professionals, including visiting physicians, nurses, and medical social workers.

A 37-year-old man under anti-Tumor Necrosis Factor (TNF) therapy for Crohn's disease, presented with otalgia and hearing impairment on the right side for five days. Otoscopic examination showed redness and swelling of the right tympanic membrane, indicative of acute otitis media. Administration of oral antibiotics relieved his ear pain, but fluid retention in the middle ear remained. After 28 days, a tympanostomy tube was inserted, but otorrhea began to persist. Four months later, white lesions appeared in the anterior lower quadrant of the tympanic membrane. The patient also began to complain of pharyngalgia, and endoscopy revealed inflammatory swelling and white patches on the superior pharyngeal wall, the epiglottis, and the aryepiglottic folds. At this point, tuberculosis infection was suspected. Acid-fast bacillus smear and PCR from the otorrhea and pharyngeal wipe both tested positive for tuberculosis. Pathologically, lymphocytic infiltrations with multiple granulomas containing multinucleated giant cells were seen in the pharyngeal membrane, and multiple Ziehl-Neelsen-positive cells were found from the middle ear tissue. Subsequently, TNF-α inhibitor was discontinued, and antituberculosis drugs were administrated. Nine months later, inflammatory findings of the middle ear and laryngopharyngeal mucosa improved.

Tuberculosis is an important differential diagnosis of refractory otitis media, especially in patients receiving immunosuppressant agents such as a TNF-α inhibitor.