Neonatal Marfan Syndrome: Report of Two Cases
A 47-day old male infant was referred due to respiratory distress, food intolerance and weight loss. He was born after 40 weeks of gestation through cesarian section due to fetal bradycardia. He weighed 2800 grams at birth, and had Apgar scores of 7 and 9 at the first and 5th minute, respectively. He was the second child of the family. His mother had an uneventful pregnancy. Ultrasonography reported no abnormality in the fetus. His parents were first cousins. The father had normal body habitus (85 kg, 182 cm), normal echocardiographic results (aortic root 2.53 cm, no mitral abnormality) and normal eye examination. The mother (75 kg, 163 cm, aortic root 1.9 cm) and the only sibling (16.5 kg, 112 cm, aortic root 1.66 cm) were normal as well.\nOn physical examination, his total height, upper and lower segments, and arm span were 58, 33, 25, and 64 cm, respectively (upper to lower segment ratio 1.32, arm span to height ratio 1.1). His actual and maximum weights were 3.3 and 4 kg, respectively. The anterior fontanel was open (2.5 cm × 3 cm). Ophthalmologic examination revealed mild right strabismus and no lens dislocation. Large ear lobes, enophthalmos, micrognathia and high palate were evident (). The skull was dolichocephalic. Forehead skin was redundant.\nThe fingers and toes were abnormally long (). Both thumb and wrist signs were positive. The knee and elbow joints had limitation of motion. Mild pectus excavatum was evident () as well as slight scoliosis. Rales were auscultable on both lungs especially on the bases. Cardiac examination revealed a grade III/VI holosystolic murmur over the left sternal border and gallop rhythm. The abdomen was soft and the liver was palpable 2 cm below the costal margin. There was bilateral inguinal hernia (more prominent on the right).\nBlood methionine level was normal (13.4 micromol/l, normal range 6-49), as well as the karyotype (46XY). Chest X-ray showed right diaphragm eventration. Fluoroscopy confirmed this diagnosis. Brain sonography yielded no abnormality. Electrocardiography showed left atrial enlargement. Echocardiography revealed dilated aortic root (23 mm, Z value ≥+3) and prolaptic mitral valve with severe regurgitation (). Tricuspid valve was prolaptic and severely regurgitant as well. There was moderate pulmonary hypertension (pressure gradient of tricuspid regurgitation = 43 mmHg).\nThe patient was hospitalized in our intensive care unit for 24 days. He had respiratory distress needing oxygen, intravenous inotropic agents (dopamine, dobutamine, milrinone), angiotensin-converting enzyme inhibitor (captopril), and diuretic (furosemide). He first received parenteral nutrition and after improvement of the respiratory condition, fortified formula and medium-chain triglycerides to overcome his weight loss. As he had gastroesophageal reflux, relevant medications (omeperazole, ranitidine) were initiated. After improvement of the respiratory distress, he was discharged in a controlled general condition. One week later, he was visited at our outpatient clinic. His general condition showed no change. Another one week later, he died at a local hospital due to fever and severe respiratory distress as reported by his parents.