Fukuyama congenital muscular dystrophy is a genetic disease and common in Japan. The typical clinical features are hypotonia with an early infantile onset and severe developmental delay. The diagnosis is based on pathologic evidence of muscular dystrophy revealed by biopsy or an increased serum creatine kinase levels. Involvement of the brain is characterized by abnormal cerebral cortical dysplasia, cerebellar dysplasia, and white matter changes. We encountered a case of Fukuyama congenital muscular dystrophy in which brain MRI findings were typical, and present this case together with a review of the literature.
Biopsy ; Brain ; Creatine Kinase ; Diagnosis ; Japan ; Magnetic Resonance Imaging* ; Malformations of Cortical Development ; Muscle Hypotonia ; Muscular Dystrophies ; Walker-Warburg Syndrome*

Acute appendicitis is very rare in premature neonates. Preoperative diagnosis of this condition is difficult, and then it leads to high morbidity and mortality. We report 9-day-old premature male with ruptured acute appendicitis presented with pneumoperitoneum on plain films of the abdomen. Awareness of this rare condition and possible differential diagnosis in this age group is also discussed.
Abdomen ; Appendicitis ; Diagnosis, Differential ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Male ; Pneumoperitoneum