A Newborn with Distended Abdomen.

نویسندگان

  • Rajeevan Selvaratnam
  • Amy B Karger
چکیده

A male neonate was born to a 35-year-old mother at an outside hospital at 39 1/7 weeks gestation via emergency cesarean section due to decreased fetal movements. The infant had respiratory distress secondary to meconium aspiration and was noted to have a large, distended abdomen at birth. Subsequent ultrasound confirmed hepatosplenomegaly with no evidence of liver mass or ascites. By report, alanine aminotransferase, aspartate aminotransferase, and alkaline phosphatase were initially within the reference intervals, but the patient had a prolonged INR (international normalized ratio) and hypoalbuminemia, supporting liver dysfunction. The infant was transferred to our institution for specialized care owing to hepatosplenomegaly, hypoglycemia, and coagulopathy of unknown etiology. On admission, the infant was additionally noted to be mildly pancytopenic, with increased lactate and ammonia. Initially, infectious etiologies were of primary concern given the history of meconium aspiration and the history of hepatosplenomegaly, which may be a presenting feature in patients with congenital infection. However, an extensive infectious disease workup was negative and included screens for hepatitis A, B, and C, HIV, herpes simplex virus, cytomegalovirus, Epstein– Barr virus, parvovirus, enterovirus, toxoplasmosis, and blood, urine, and stool cultures. Hemophagocytic lymphohistiocytosis (HLH), although rare, was also a diagnostic consideration, as it can present with hepatosplenomegaly, coagulopathy, and pancytopenia, which were seen in this patient. However, the patient’s pancytopenia resolved and the patient lacked additional features of HLH such as hypertriglyceridemia and hyperferritinemia. Given the patient’s presentation of hepatosplenomegaly, hypoglycemia, and increased lactate and ammonia, an inborn error of metabolism was also part of the initial differential diagnosis. To screen broadly for metabolic disorders, plasma amino acids, urine organic acids, and plasma acylcarnitines were ordered stat while newborn screen results were pending. The clinical team was then called by the laboratory regarding the urine organic acid screen results and informed that although the overall urine organic acid profile was unremarkable, they noted a significant additional peak that identified as vanillylmandellic acid (VMA), and recommended quantification by a more specific method if clinically indicated. VMA and homovanillic acid (HVA) are catecholamine metabolites that are increased in patients with catecholaminesecreting tumors such as neuroblastoma, pheochromocytoma, and other tumors of neural crest origin. Given the lack of a mass on imaging studies of this patient, a malignant process was not high on the differential. Despite this, the team proceeded with the recommendation to specifically quantify HVA and VMA given the lack of a diagnosis in this patient at the time. Specific quantification demonstrated substantial increases in both urine VMA (430 mg/g creatinine, reference interval, 0–32.8 mg/g creatinine) and HVA (432.5 mg/g creatinine, reference interval, 0–17.6 mg/g creatinine).

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Double Intussusceptions with Necrotizing Enterocolitis Diagnosed in a Premature Infant

Intussusception in neonates, especially in preterm infants, is rare. Common symp­ toms of intussusception, which include distended abdomen and gastric residuals, lead to misdiagnosis as necrotizing enterocolitis (NEC). Delayed diagnosis of neo­ natal intussusception delays treatment as well, which can lead to life­threatening complications. The predominant location of intussusception in preterm...

متن کامل

A Case of Congenital Dilatation of the Colon (Hirschsprun's Disease)

on the 17th July, 1927, with a history of extreme constipation alternating* with periods of diarrhoea, dating from birth. During the periods of constipation the abdomen would become very greatly distended and the child would vomit most of his feeds. Pressure on the abdjomen did not seem to be painful as he did not cry when this was applied. Each attack of constipation had been of increasing dur...

متن کامل

Pneumoscrotum: A Rare Presentation of Gastric Perforation in a Neonate

Pneumoperitoneum in neonates is not an uncommon condition. Free air in peritoneum may be secondary to host of pathological lesions. Usually the patient presents with signs of intraperitoneal sepsis, however presence of air in the scrotum as a concomitant sign is a rare event. Herein we report a 4-day-old neonate who presented with 2 days history of fever and scrotal swelling. Abdominal signs we...

متن کامل

A 36-year-old man with breathlessness and anasarca

Dr. Syed/Dr. Tiyas/Dr. Muralimohan (pulmonology). A 36-year-old male presented with dyspnea for 1 year, progressively increasing in severity, with recent onset of orthopnea. He had recurrent episodes of syncope, bilateral lower limb swelling, distended abdomen in the past 1 month. The patient did not have any history of a cough or fever. Furthermore, there was no history of any congenital heart...

متن کامل

Antenatal detection of grossly distended bladder owing to absence of the urethra in a fetus with trisomy 18.

An ultrasonic examination revealed a grossly distended fetal abdomen. Amniocentesis at 19 weeks' gestation showed raised amniotic fluid alphafetoprotein, a second band of specific acetylcholinesterase, and a fetal karyotype 47,XY,+18. The pregnancy was terminated and the necropsy examination showed absence of the urethra, grossly distended bladder, hydroureters, and congenital heart anomalies.

متن کامل

A Liver Abscess Bursting into the Peritoneal Cavity with Signs of Intestinal Obstruction

The patient was emaciated with a distended abdomen. Answered questions with difficulty. Coughing at intervals with slight expectoration. (Edema of the legs and abdominal wall was present and the patient was markedly ansemic. No sign of jaundice could be detected. The breathing was thoracic in type although a slight movement of the upper part of the abdominal wall was noticeable. There was sligh...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Clinical chemistry

دوره 62 8  شماره 

صفحات  -

تاریخ انتشار 2016