Perinatal lethal type II osteogenesis imperfecta: a case report

We report a new case of osteogenesis imperfecta (OI) type II which is a perinatal lethal form. First trimester ultrasound didn't identified abnormalities. Second trimester ultrasound showed incurved limbs, narrow chest, with hypomineralization and multiple fractures of ribs and longbones. Parents refused pregnancy termination; they felt that the diagnosis was late. At birth, the newborn presented immediate respiratory distress. Postnatal examination and bone radiography confirmed the diagnosis of OI type IIA. Death occurred on day 25 of life related to respiratory failure.Key words: Osteogenesis imperfecta, newborn,prenatal diagnosi

Isolated anti-Ro/SSA thrombocytopenia: a rare feature of neonatal lupus

We report a rare case of isolated thrombocytopenia related to anti-Ro/SSA antibodies. The mother was  followed for unlabeled familial thrombocytopenia. The mother had positive anti-Ro/SSA antibodies. She was asymptomatic without skin lesions or other criteria neither of systemic lupus erythematosus nor other  connective tissue disease. Pregnancy was uneventful. The postnatal examination was normal. On the first day of life, blood cells count showed thrombocytopenia at 40 x 109/L. Within the second day of life, platelet level  dropped to 20 x 109/L. The management of thrombocytopenia included platelet transfusion and human  immunoglobulin infusion. On the fifth day of life, there has been a drop in platelet count to 10 x 109/L requiring renewed platelet transfusion and human immunoglobulin infusion. On the 10th of life platelets rate was stable around 60 x 109/L. The infant had no evidence of cardiac, dermatologic or hepatobilary involvement initially or throughout follow up.Key words: Neonatal lupus erythematosus, thrombocytopenia, anti-Ro/SS

Acute neonatal appendicitis in a preterm

Acute neonatal appendicitis is very rare in the neonatal period. It is usually associated with comorbidity including prematurity. Symptoms are non-specific. The prognosis is marked by high risk of mortality and morbidity. Here, we report a case of preterm new born who presented with sepsis, apnoea, and digestive signs. The laparotomy revealed perforated appendicitis complicated with peritonitis

Fetal cyst reveling retroperitoneal enteric duplication

Retroperitoneum is a very uncommon site of enteric duplication (ED). We report a new case of retroperitoneal ED cyst suspected in utero. Prenatal ultrasound showed an abdominal cystic mass. Noncommunicating retroperitoneal ED cyst measuring 70 mm × 30 mm was resected. Histopathologic examination confirmed the diagnosis