It is a 13-year-old boy born as only child from healthy non-consanguineous parents. He was born at 38 weeks of gestational age. Maternal preeclampsia was detected in the last month. Growth parameters at birth were: weight 3,880 g (+2.5 Standard deviation (SD)), length 54 cm (+3 SD), and Occipital frontal circumference 38.5 cm (+4.5 SD). No facial dysmorphisms were evident at birth. He showed mild respiratory distress, treated with oxygen support in incubator for few hours, transient hypoglycemia, requiring early oral feeding, and jaundice, treated with phototherapy.\nNormal acquisition of milestones was reported with exception of mild delay in independent walking. The patient hold up the head at 4 months, he sat unsupported at 7 months, and began walking independently at age 18 months. He started speech therapy at the age 3 years due to language delay. The first formal neuropsychological test was assessed at 11 years (WISC IV), showing a total IQ of 55, with language subitem being the worst skill. He attended the secondary school with support. He has fluent language, can read and write well. He is quiet and sociable, no behavioral problems and Autism spectrum disorder were reported. He never had seizures. As a child, at age 2 years, he suffered from viral infection with myocarditis and transient hepatosplenomegaly that spontaneously resolved after 6 months. Periodic ultrasound examination of heart, kidneys, and thyroid gave normal results. Endocrine evaluations, including Follicle-stimulating hormone, Luteinizing hormone, Thyroid-stimulating hormone, FT4-FT3, testosterone, and IGF1, gave normal results. Kidney and liver function were normal. Growth profile in term of weight and height was always harmonic and above normal ranges for Centers for Disease Control and Prevention's growth charts (respectively, weight at +3.5 SD and height at 4 SD), whereas Occipital frontal circumference measure progressively increased till +8 SD at the age of 10 years. A bone age study was performed at 7 years of age, showing mild advanced bone age (8 years). At age 12 years, weight was 80 kg (+3.6 SD), height 180 cm (+4 SD), Occipital frontal circumference 66.5 cm (+8 SD).\nHe was presented with trunk hypotonia and minor facial anomalies (Figure ). Pectus excavatum, mild joint hyperlaxity (Beighton score 3/9), and moderate scoliosis treated with corset, were also present. He underwent dermatological examination and dermoscopy because of multiple small acquired nevi. The only atypical lesion was surgically excised, and diagnosed as dysplastic Clark nevus. A small hyperkeratotic lesion on the foreskin of about 3 mm in diameter was present from birth. Brain CT scan performed at age 2 years, due to macrocephaly, showed hypodensity of the bilateral posterior periventricular white matter, and mild asymmetric lateral ventricle enlargement. Brain MRI at 12 years showed a Chiari malformation type I with right cerebellar tonsillar ectopia 12 mm below mcRae's line and mild lateral ventricular asymmetry without hydrocephalus. Symmetric megalencephaly without polymicrogyria was diagnosed.
A 57-year-old Asian woman experienced an abnormal feeling on the left side of her neck and difficulty breathing 90 minutes after eating a Chinese noodle dish containing roasted pork, egg, spinach, seasoned bamboo shoots, laver, and garlic. She was advised to call an ambulance by our triage nurse after telephone consultation and was transported to our hospital by a physician-staffed helicopter due to the long distance from her house to the hospital. She had a history of removal of a left sphenoid ridge meningioma one year earlier. She had experienced limited rigidity of her left neck and limited peripheral cold sensation on her left side in winter since approximately 10 years of age. She had experienced limited peripheral swelling of her left side and limited lower back pain of unknown origin on her left side several times. She had been suffering from oral allergy syndrome since she was young. She sometimes experienced a tingling sensation on her lips and an unpleasant feeling in her throat after eating some types of fruit. Those fruits included mandarins, oranges, kiwis, bananas, and pineapples. She was married but did not have any children.\nOn arrival, 180 minutes after eating the noodles, she had clear consciousness, and her blood pressure was 130/90 mmHg, her heart rate was 80 beats per minute, her percutaneous oxygen saturation was 100% under room air, and her body temperature was 36.9°C. She had left neck and chest swelling without color change. Her breathing difficulty subsided spontaneously.\nThe results of a blood analysis were as follows: white blood cells, 6,000/mm3; hemoglobin, 14.8 g/dL; platelets, 38.3 × 104/mm3; aspartate aminotransferase, 15 IU/L; alanine aminotransferase, 11 IU/L; total bilirubin, 0.5 mg/dL; total protein, 6.7 g/dL; glucose, 118 mg/dL; blood urea nitrogen, 18.9 mg/dL; creatinine, 0.90 mg/dL; amylase, 63 IU/L; creatine phosphokinase, 89 IU/L; sodium, 142 mEq/L; potassium, 4.0 mEq/L; chloride, 106 mEq/L; C-reactive protein, 0.05 mg/dL; prothrombin time, 10.6 (control, 11.9) sec; activated partial thrombin time, 26.4 (control, 26.9) sec; fibrinogen, 310 mg/dL; fibrin degradation products, 0.8 μg/mL; troponin T, 0.06 (0-0.14) ng/mL; and immunoglobulin E (IgE), 429 (0-250) IU/mL. Chest roentgen, an electrocardiogram and cardiac echography findings were all negative. Neck computed tomography (CT) with contrast medium and magnetic resonance imaging (MRI) revealed left-side-limited edema in the subcutaneous area and surrounding esophagus and bronchus (Figures , ).\nThese radiological findings excluded hemorrhaging or pseudoaneurysm formation. She underwent observational admission. After her edema improved, she was discharged on the third hospital day. A follow-up examination one week later showed complete resolution of the neck and chest edema. The results of a blood allergen test analysis (0-1.39) showed an elevated immunoglobulin E (IgE) level as follows: Japanese cedar, 44.30; betula alba, 7.27; orchard grass, 3.42; Japanese cypress, 2.65; dermatophagoides farina, 3.03; house dust, 1.85; and mugwort, 1.70. The remaining allergens were within the normal ranges, as follows (0-1.39): alder 1.35, timothy 0.85, 0.33; cat skin, 0.25; and Candida, 0.22. The results for the following allergens were all zero: ragweed, Alternaria, dog skin, wheat, buckwheat, soybean, rice, tuna, salmon, lobster, crab, milk, beef, chicken, pork, albumen, ovomucoid, peanut, sesame, kiwi, banana and latex. We also obtained blood samples from the bilateral upper extremities at the same time. The examination items that showed ≥5% laterality were as follows: white blood cell count (6,500/mm3 vs. 6,100/mm3), platelets (40.8 × 104/mm3 vs. 38.0 × 104/mm3, aspartate aminotransferase (12 IU/L vs. 11 IU/L), lactate dehydrogenase (184 IU/L vs. 172 IU/L) and creatinine (0.63 mg/dL vs. 0.58 mg/dL). We could not obtain permission from the patient for further a genetic analysis by skin biopsy.