Methylmalonic acidemia was first described in 1967 and represents an autosomal recessive disease originating from a disorder of propionate metabolism. Although rare, it is one of the most frequent inborn errors of organic acid metabolism. The disease can manifest itself in the first days of life or have late onset in childhood. The therapy is based on protein restriction and carnitine supplementation. The present study reports a case of an infant who was seen at the hospitals emergency room with vomiting, dehydration, fever, adynamia, hyporexia, hypotonia and hyporesponsiveness, and developmental delay. Started research for methylmalonic acidemia and confirmed diagnosis through laboratory tests. Therefore, it is important to have studies and research on rare genetic diseases so that medical professionals can update, diagnose and seek early treatment for such patients.
Enteric duplication cysts are rare congenital anomalies of the gastrointestinal tract. They can be identified from the neonatal period or in the first two years. The pathogenesis is still uncertain opening possibility to several theories correlated to its formation during the embryogenesis. The clinical manifestations are very varied depending on the location and size of the lesion. Diagnosis is initially performed by abdominal ultrasonography and confirmed by histopathological examination. In these patients, the treatment is always surgical. This case report refers to a neonate with ultrasounds in intrauterine period showing abdominal cystic masses and its evolution to the definitive diagnosis of enteric duplication cyst, after surgical treatment and confirmed by histopathological analysis.
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