Clinical Pathological Conference--三军总医院.pptVIP

Clinical Pathological Conference 三軍總醫院 小兒科部 王志堅 主任/R3 田炯璽 Case PresentationPresent Illness A male newborn was born to a healthy 30-year-old mother via cesarean section at gestational age 40 weeks due to fetal distress. The baby had respiratory distress and poor limbs movement upon delivery. Apgar scores were 7 to 7 at 1st minute and 5th minute, respectively. He was immediately transferred to NICU. Case PresentationPersonal and Family History Birth history: BW: 2784gm (10~25th percentile) Body length: 50cm (50~ 75th percentile) Head circumference: 36cm ( 90th percentile) Maternal history: Parity: 1011(previous ectopic pregnancy) No reduction in fetal movement noted during pregnancy. Polyhydramnios: (-). Family history: no history of neuromuscular disease or consanguimity. Case PresentationPhysical Examination Skin: Hypo-pigmentation noted Genitalia: bilateral cryptorchitism Neurological: primitive reflexes : depressed ; DTRs : depressed ; muscle tone: hypotonic ; poor crying. Case PresentationRadiologic Lab Findings Chest film: mild infiltration over bilateral lung fields. Case PresentationHospital Course-I Initially nasal CPAP was applied due to respiratory distress.He was treated as neonatal infection then. Throughout neonatal period, he usually in hyper-somnolence status, needed NG-tube feeding, and had difficulty maintaining his airway because of profuse sputum and required frequent oral suction. Two times of RUL pneumonia happened to him before age of one month, and recovered under supportive treatment. His breathing got better since age of one month, and he could be weaned off CPAP intermittently. His proximal limbs developed some anti-gravity power although less active movements. Case PresentationHospital Course-II Poor of eye movement and facial expression was noted. Bilateral mild ptosis, high arched palate, elongated face, slender long digits, asymmetric of chest wall and absence of tendon