Congenital tuberculosis in an extremely preterm infant conceived after in vitro fertilization: case report.

BACKGROUND: Congenital tuberculosis is a rare manifestation of tuberculosis. The diagnosis is often delayed, especially in preterm neonates because of the non-specific clinical presentation and the lack of awareness of maternal disease prior to pregnancy. CASE PRESENTATION: We report a case of congenital tuberculosis in an infant born at 24 weeks of gestation to a mother who presented with uncontrolled seizures during preterm labor. Maternal diagnosis was initially made by placental pathology, and later confirmed by isolation of Mycobacterium tuberculosis in urine, gastric aspirates and sputum. Full screening was performed on the newborn infant, and both mother and infant were successfully treated for tuberculosis with a four drug regimen. CONCLUSION: Pregnancy can exacerbate latent tuberculosis and women originating from endemic areas are especially susceptible. The best way to prevent congenital tuberculosis is to have a high index of suspicion and identify and treat tuberculosis in pregnant women.

Neonatal Escherichia coli infection in twins: clinical spectrum and management dilemma.

The clinical manifestation of Escherichia coli could vary from asymptomatic bacteraemia to systemic bloodstream infection and meningitis. We describe an unusual course of E. coli infection in twins, emphasising commencement of appropriate antimicrobial therapy. A set of male dichorionic diamniotic twins were delivered at 34 weeks of gestation by caesarian section. Pregnancy was complicated by diabetes, pre-eclampsia and cholestasis. Antenatal ultrasounds noted a congenital pulmonary airway malformation in twin A. Following delivery, twin A developed respiratory distress, but twin B was asymptomatic. Partial septic work-up at admission in the neonatal intensve care unit was done. Twin A's blood culture grew E. coli, while twin B's blood culture was negative. Twin A was treated with 7 days of intravenous antibiotics. At 11 days of age, twin B acutely developed a scrotal swelling. On suspicion of testicular torsion, he was taken for urgent surgery, which revealed a scrotal abscess positive for E. coli The scrotum was irrigated and successfully treated with 4 weeks of antibiotics. Both twins were doing well at 3 months of follow-up.

Rainbow of colors: Inspissated bile syndrome secondary to hemolytic disease of the newborn and concomitant serum dynamics.

The recent clinical experience with hemolytic disease of the newborn and its post-icteric sequelae is limited among high-income countries because of nearly over four decades of effective prevention care. In this case, we will discuss the sequelae of a baby born with hemolytic disease of the newborn to an Rh negative mother with no prenatal care from remote northern Saskatchewan. Inspissated bile syndrome is a rare but serious complication of hemolytic disease of the newborn. The concentration of hemolytic products parallels with serum color changes.

Screening for Retinopathy of Prematurity Through Utilization a Pediatric Retinal Camera at Jim Pattison Children's Hospital: A Vision for Improved Care.

Retinopathy of Prematurity (ROP) is a vascular proliferative disorder of preterm infants, with increased disease severity and incidence occurring with lower gestational age and birth weight. An alternate approach to ROP screening with wide-field digital retinal imaging helps with the early detection of ROP, especially during the pandemic.

Paralytic ileus in the neonate as a rare complication of maternal methadone treatment-a case report.

Narcotic bowel syndrome is defined as worsening abdominal bloating and cramping with chronic opiate use, leading to paralytic ileus. This syndrome is common yet underreported in adults. However, there is no current evidence of such conditions in the newborn after exposure in utero to high doses of opiates. Our patient was a female indigenous preterm infant born to a mother on a high dose of methadone. On admission at the age of 12 h, she was found to have significant gastric distension. Initial abdominal X-ray showed a large gastric bubble with little evidence of rectal gas. Malrotation was suspected and surgical intervention was discussed. However, repeat abdominal X-ray, ultrasound and upper Gastrointestinal series were found to be normal and without acute findings. Thus, surgery was avoided. The gastric distension resolved spontaneously. She never required opiate therapy for neonatal abstinence syndrome. Given the pattern of gas seen on the initial abdominal X-ray and its spontaneous resolution after removal of maternal methadone, we suspect this baby had neonatal narcotic bowel syndrome. This has never been reported in the literature and is a unique finding. Given the lack of current reports, further observations for this syndrome should be conducted.

The Effect of Prenatal and Postnatal Treatment with Intravenous Immunoglobulin on Severity of Neonatal Hemochromatosis: The Tale of Two Brothers (Case Report).

Background Neonatal hemochromatosis (NH) is a rare condition that was the main reason for liver transplantation in infants. With the realization that NH results from the fetal complement-mediated liver injury, intravenous immunoglobulins (IVIG) were successfully introduced for the treatment. Case Presentation We present two cases of NH from the same family to illustrate the role of antenatal treatment with IVIG in alleviation and possible prevention of this serious morbidity. Conclusion A prenatal treatment and early postnatal administration of IVIG are effective ways to manage NH that help to reduce the severity of the symptoms, prevent liver failure, and avoid the need for liver transplantation.

A giant umbilical cord: Benign finding or surgical emergency?

Congenital urachal anomalies are usually asymptomatic. However, infection or obstruction of urachal remnant may result in serious complications. The giant umbilical cords with suspected internal communications could contain remnants and require surgical exploration. With timely recognition and surgical intervention, the outcome is generally good.

Management of large congenital parameatal cyst: Observation or intervention? (Case Report).

INTRODUCTION: A parameatal urethral cyst is a rare finding in an otherwise well child. They can present as either congenital malformations or as a finding later in life, and may occur either unilaterally or bilaterally on the glans penis. Though they are benign, possible complications include impaired urinary stream flow, dysuria, or hindered cosmesis. PRESENTATION OF CASE: We report a spontaneous resolution of large congenital parameatal cyst in an otherwise healthy neonate whose mother had a recent history of urinary tract infection. A spontaneous resolution of the cyst was reported at the age of one month. DISCUSSION: A small parameatal cysts have shown spontaneous resolution approximately 25% of the time. Treatment options should not include aspiration or marsupialization as many cases have shown recurrence. The role of antenatal infection in development of parameatal cyst not yet been determined. CONCLUSION: A large parameatal cyst could resolve spontaneously, routine observation recommended for majority of cases.

Rare cause of emergency in the first week of life: congenital hepatoblastoma (case report).

During the first week of life, a sudden deterioration in a newborn commonly includes investigations to rule out infections, lung pathologies, cardiac lesions, neurological insults, metabolic disorders or gastrointestinal emergencies. It is unusual, however, to consider malignancy as the primary causative factor. In this case report, we describe a rare and unusual presentation of congenital hepatoblastoma, its complications and management in a neonate with multi-organ dysfunction. A term infant presented with sudden deterioration, hemodynamic instability and an acute abdomen on his 4th day of life. Surgical exploration revealed a ruptured neoplasm that pathology diagnosed as a congenital hepatoblastoma. After the patient was stabilized, chemotherapy was initiated. At present, the patient is 8 months old and under continuous follow-up of oncology service. This case highlights the importance of considering rare diagnoses including congenital malignancy when investigating and managing a sick newborn with multi-organ dysfunction.

The Value of Different Radiological Modalities in Assessment of Spontaneous Pneumomediastinum: Case Review and Diagnostic Perspective.

Pneumomediastinum (PM), or a mediastinal air leak, is a known morbidity in neonates. Among predisposing factors, the most significant are mixed lung diseases, such as pneumonia or meconium aspiration syndrome, with coexisting atelectasis and airway obstruction. We report an unusual presentation of significant spontaneous pneumomediastinum in a term newborn delivered by elective cesarean section with no history of active resuscitation at birth. Timely diagnosis of SPM is important for both management and prognosis. We believe that lung ultrasound (LUS) is a promising screening tool for early detection of PM in neonates, and could help avoid unnecessary exposure to radiation in delicate neonates. More simultaneous studies comparing chest X-ray (CXR), LUS, and computed tomography (CT) scans may help to prove the utility value of point-of-care ultrasounds as a primary diagnostic tool in identifying this morbidity.

Immunological Emergency in Neonate: Case Report and Role of Early Screening.

Healthy looking newborns may have severe combined immunodeficiency (SCID), and neonatologists frequently are the first physicians to encounter these patients. Physicians usually have a high index of suspicion for this condition in presence of certain risk factors (unexplained infants' deaths, consanguinity); however, >80% of infants with SCID have no positive family history. A timely diagnosis of this condition is crucial in decreasing both mortality and morbidity. The only way to detect SCID prior to the onset of infections is newborn screening (NBS). In term infants, NBS has 99.99% sensitivity for SCID, with no false negatives. In preterm infants, screening is less accurate due to a lack of standard T cell receptor excision circle (TREC) values in this age group. We report a case of SCID in term infants born to consanguineous parents who were presented with clinical and laboratory findings of erythroderma, severe infection, failure to thrive, eosinophilia, and elevated immunoglobulin E (IgE) together with immunodeficiency. A timely diagnosis was followed by successful hematopoietic stem cell transplantation (HSCT) therapy.

Aplasia cutis congenita as a result of interstitial laser therapy for fetal reduction in monochorionic twins: Conservative approach and outcome.

Monochorionic (MC) twin pregnancies are known to carry a high risk of twin-to-twin transfusion syndrome (TTTS) that could lead to miscarriage and perinatal death. Demise of one fetus is frequently associated with co-fetal death. Fetal reduction by interstitial laser therapy is an effective procedure to prevent this outcome, but it may be associated with significant risks for both mother and fetus. Aplasia Cutis Congenita (ACC) may occur in up to 8% cases of fetal reduction by laser therapy. We report ACC in a preterm infant, a survivor of interstitial laser therapy for fetal reduction in MC pregnancy. Despite of massive skin lesions we were able to manage this case conservatively. Follow-up at 5 years of age revealed minimal scarring and no motor function limitations.

Probiotics supplementation and length of hospital stay in neonates with gastrointestinal surgery.

Any manipulation on open bowel causes interventional impact on gut microbiome, and surgical stress triggers bacterial translocation; thus, it will be fundamental to determine gut microbiome after surgery. Monitoring dynamic changes in microbiome of post-surgical infants who received probiotics and placebo could provide with important information about gut colonization and potential bacterial overgrowth. The purpose of this study is to assess the effect of probiotics supplementation on length of hospital stay, duration of parenteral nutrition, and feed tolerance in neonates after gastrointestinal surgery.

Comparison of Presentation, Course, and Outcome of Congenital and Acquired Cytomegalovirus Infection in Twins.

Background Cytomegalovirus (CMV) is one of the most common causes of serious viral intrauterine infections. It is universally distributed among the human population with an average incidence of 0.15 to 2%. Indeed, at least half of the women in the reproductive age have evidence of prior CMV infection. Epidemiology and Pathogenicity However, it is not a usual practice to screen asymptomatic pregnant woman or neonates for CMV. Even if a mother developed a primary CMV infection during pregnancy, up to 90% of the newborns with congenital CMV will be asymptomatic at the time of birth. Only 5 to 7% of the infected babies will be acutely symptomatic, and the typical clinical presentation includes intrauterine growth restriction, microcephaly, various cutaneous manifestations (including petechiae and purpura), hematological abnormalities (particularly resistant thrombocytopenia), hepatosplenomegaly, chorioretinitis, hepatitis, etc. In contrast, acquired CMV infection is extremely unlikely to cause any serious sequelae for the infant. Cases We present a case of congenital and acquired CMV infection in twins with a focus of dissimilarity in presentation, clinical course, and outcome.

Bilateral congenital lumbar hernias in a patient with central core disease--A case report.

Congenital lumbar hernias are rare malformations caused by defects in the development of the posterior abdominal wall. A known association exists with lumbocostovertebral syndrome; however other associated anomalies, including one case with arthrogryposis, have been previously reported. We present an infant girl with bilateral congenital lumbar hernias, multiple joint contractures, decreased muscle bulk and symptoms of malignant hyperthermia. Molecular testing revealed an R4861C mutation in the ryanodine receptor 1 (RYR1) gene, known to be associated with central core disease. This is the first reported case of the co-occurrence of congenital lumbar hernias and central core disease. We hypothesize that ryanodine receptor 1 mutations may interrupt muscle differentiation and development. Further, this case suggests an expansion of the ryanodine receptor 1-related myopathy phenotype to include congenital lumbar hernias.

Neonatal hypercalcemia secondary to subcutaneous fat necrosis successfully treated with pamidronate: a case series and literature review.

Subcutaneous fat necrosis (SCFN) is a noninfectious panniculitis that occurs in term infants who experience significant distress in the 1st weeks of life, including hypoxic ischemic encephalopathy (HIE). Since the introduction of therapeutic hypothermia for HIE, there have been a few published case reports of SCFN, following this modality of treatment. Although, most cases of SCFN resolve spontaneously, SCFN may be associated with hypercalcemia, which may sometimes reach dangerous levels. Approaches used for the management of this potentially life-threatening condition, include hyperhydration, calciuric diuretics, corticosteroids, and in more resistant cases pamidronate, a bisphosphonate. We report our experience on the use of pamidronate in two cases of severe hypercalcemia associated with SCFN following therapeutic hypothermia for HIE. We believe that with increasing use of therapeutic hypothermia for HIE, clinicians are likely to encounter this condition more frequently.