Neonatology Flashcards

Question

Pierre Robin's sequence

Answer 1

- Described as a “sequence” because mandibular hypoplasia initiates a sequence of events before birth that cause other signs and symptoms. - Mandibular hypoplasia influences the placement of the tongue to be more posterior, which then becomes a risk of airway obstruction. - The abnormally small mandible also keeps the tongue high in the oral cavity, causing a cleft in the palate and absence of a cleft lip. - Babies with Pierre Robin sequence can have difficulty feeding due to the cleft palate and if left untreated can lead to failure to thrive. - Treatment involves prone positioning and nasogastric feeding, but in severe cases patients may require a tracheostomy

Answer 2

In the first few days of life, there may be difficulty feeding with breathlessness and increasing cyanosis, largely unresponsive to supplemental oxygen. The patient may be in heart failure with tachycardia, tachypnoea, and hepatomegaly. A murmur may or may not be audible. In severe cases the baby may be collapsed in cardiogenic shock with a grey appearance and weak or absent peripheral pulses. An infant suspected of having a ductal-dependent congenital cardiac defect should be treated with prostaglandin E1 because he/she is at risk for progressive hypoxia and metabolic acidosis if the ductus closes. Prostaglandin E1 will prevent the ductus arteriosus from closing and reestablish ductal patency if closure has already occurred, and thereby increase PaO2, and mitigate the onset of metabolic acidosis. This drug is indicated for the temporary management of the neonate with ductus-dependent congenital heart disease while awaiting transfer to a tertiary care nursery for evaluation and surgical therapy. It is also used to stabilise a neonate's condition until surgery can be completed. Therefore in general, the more severe lesions will cause systemic hypoperfusion, poor pulses, and metabolic acidosis

Answer 3

Congenital cornea is most common cause others see below: ``` ◾S - Sclerocornea ◾T - Tears in the Descemet membrane secondary to birth trauma or congenital glaucoma ◾U - Ulcers ◾M - Metabolic ◾P - Peters anomaly ◾E - Edema ◾D - Dermoid ```

Answer 4

- Primary infantile glaucoma occurs in 1:10,000 live births. It is a major cause of blindness. Primary infantile glaucoma is bilateral in more than two-thirds of affected patients, but may be asymmetric in onset. - It is characterised by improper development of the eye's aqueous outflow system, leading to increased intraocular pressure, with consequent damage to ocular structures, resulting in loss of vision. -The typical infant with primary infantile glaucoma presents with the classic triad of: ◾Chronic or intermittent tearing ◾Photophobia ◾Some degree of blepharospasm -may notice a large cornea or asymmetry in the corneal diameters. Corneal edema is manifest as clouding. Findings on physical examination include: ◾Corneal enlargement ◾Corneal clouding, conjunctival injection, tearing, discharge, and blepharospasm, which are caused by corneal edema ◾Optic nerve cupping ◾Ocular enlargement (buphthalmos)

Answer 5

– C. trachomatis is primarily transmitted to newborns via exposure to an infected mother's genital flora during vaginal birth. - 5 days after birth to 2 weeks - The most frequent clinical manifestation of C. trachomatis infection in the newborn is conjunctivitis. - Clinical findings of conjunctivitis range from mild swelling with a watery eye discharge, which becomes mucopurulent, to marked swelling of the eyelids with red and thickened conjunctivae (chemosis). - A pseudomembrane may form as the exudate adheres to conjunctiva. The conjunctivae may also be very friable resulting in bloody discharge - Babies infected with chlamydia may develop pneumonitis (chest infection) at a later stage (range 2–19 weeks after delivery). Infants with chlamydia pneumonitis should be treated with oral erythromycin

Answer 6

- Intrauterine or congenital herpes simplex virus (HSV) infection is rare. It is most likely caused by maternal viremia associated with primary HSV infection during pregnancy. - Intrauterine HSV is associated with placental infarcts and necrotizing, calcifying funisitis (inflammation of the umbilical cord), hydrops fetalis, and fetal in utero demise. - Survivors of in utero HSV infection may exhibit a characteristic triad of skin vesicles/ulcerations/scarring; eye damage; and severe central nervous system manifestations, including microcephaly or hydranencephaly

Answer 7

Hurler syndrome is the severe form of MPS I and is characterised by a broad spectrum of clinical problems, including: skeletal abnormalities, hepatosplenomegaly, and severe intellectual disability (mental retardation). - Affected infants appear normal at birth. During the first year, they develop the characteristic coarse facial features, wide nasal bridge, and flattened midface. - Loss of vision and hearing may worsen the progressive developmental decline. - Corneal clouding is a characteristic feature

Answer 8

- Neisseria gonorrhoeae - Delivery of the baby until 5 days after birth (early onset) - marked bilateral purulent discharge and local inflammation. Inflammation more marked than Chlamydia - Discharge re accumulates quickly when wiped - RX with Ceftriaxone 7 days - Prophylaxis if known to be at risk with topical ointment within 1 hour of birth

Answer 9

* 100 kcal/kg would be the upper limit appropriate for premature infants receiving total parental nutrition, where less faecal loss, less heat stress and less activity is typical. * 120 kcal per kg. In enterally fed premature infants, total daily caloric requirement is dictated by energy expenditure at rest (50 kcal/kg), activity (15 kcal/kg), temperature regulation (10 kcal/kg), dietary thermogenesis (8 kcal/kg), faecal loss (12 kcal/kg) and growth (25 kcal/kg). This totals 120 kcal/kg. * 150 kcal per kg. 150 kcal/kg would be more appropriate for infants with on-going chronic disease, such as persistent respiratory disease. These infants have higher energy expenditure at rest and higher activity.

Answer 10

Craniosynostosis is premature closure of the cranial sutures, and is associated with varying skull shapes. ◾Primary craniosynostosis results from closure of one or more sutures owing to abnormalities of skull development. ◾Secondary craniosynostosis results from failure of brain growth and expansion. Primary craniosynostosis: ◾Occurs 1:2000 births. ◾Cause is unknown in the majority. ◾Deformational forces are important in occipital and frontal plagiocephaly. ◾Early detection of posterior skull shape is critical to allow successful intervention (e.g. physical therapy for torticollis.) Sagittal craniosynostosis: ◾Most common CSO affecting a single suture ◾~80% male ◾Results in scaphocepahly (boat-shaped head) ◾Frontal bossing, prominent occiput, normal occipto-frontal circumference, reduced biparietal diameter, small or absent anterior fontanelle ◾Nil hydrocephalus/normal ICP/normal neurology Metopic craniosynostosis: ◾Association with 19p chromosome abnormality ◾Results in trigoncephaly ◾Pointed forehead and midline ridge, hypertelorism Coronal Craniosynostosis: ◾18% of craniosynostosis ◾More common in females ◾Associated with Apert syndrome (with syndactyly) and Crouzon disease (with hypoplasia of the midface) ◾Unilateral - plagiocepahly, bilateral - brachycephaly, acrocephaly ◾Elevation of the eye socket, flattening of the ridge of the eye and displacement of the nose on the affected side, flat cheeks ``` Lamboid craniosynostosis: ◾10-20% ◾More common in males ◾Right side affected in 70% cases ◾Flattening of occiput, bulging of ipsilateral forehead, ipsilateral ear is anterior and inferior ``` Multiple craniosynostosis ◾Oxycephaly - tower skull with undeveloped sinuses and shallow orbits, elevated ICP Treatment: ◾Most cases are evident at birth as a result of premature suture fusion ◾Palpation of the suture reveals a prominent bony ridge ◾Fusion of the suture can be confirmed on skull x-ray ◾Premature fusion of only one suture rarely causes a neurological deficit ◾Sole indication for surgery is the child’s cosmetic appearance - prognosis depends on the suture involved and the degree of disfigurement ◾In general craniosynostosis can be surgically corrected with good outcomes and relatively low morbidity and mortality, especially for non-syndromic infants