Epispadias

Disease class: Urethral diseases

Hydrops fetalis

Also known as

• Foetal hydrops

 

Causes

• Foetal erythroblastosis
• alpha-Thalassaemia

[Neonatology] Introduction

Neonatologists specialise in diseases of neonates (newborns).
There is significant overlap with paediatrics and medical genetics. 

 

Etymology

Latin neonātus, neonāta, neonātum = newborn
Ancient Greek λογία (logia) = study

Subspecialties

 

History taking

 

Physical examination

 

Relevant problems:

• Congenital diseases
• Congenital heart disease
• Complications of labour

Neonatal diseases

 

Relevant diseases:

• Diseases of premature infants
• Retinopathy of prematurity
• Newborn respiratory distress syndrome
• Periventricular leukomalacia 
• Bronchopulmonary dysplasia

• Developmental dysplasia of the hip
• Meconium aspiration syndrome
• Neonatal jaundice
• Intraventricular haemorrhage
• Necrotising enterocolitis
• Pyloric stenosis
• Duodenal atresia
• Congenital heart disease
• Neonatal sepsis

Ambiguous genitalia

Disease class: Disorders of sex development

Kernicterus

Disease class: brain diseases, Metabolic

Kernicterus is a bilirubin-induced brain dysfunction. 

Hyaline membrane disease

Disease class: Newborn respiratory distress syndrome 

Transient Tachypnoea of the Newborn

Disease class: Tachypnoea

Also known as

• TTN

Exanthema subitum

Disease class: Exanthema

Disease class: skin diseases, Viral

Also known as

Roseola infantum
Sixth disease

 

Pathogen

• HHV-6 (Herpesvirus 6)

Miliaria

Disease class: Sweat gland diseases

Also known as

• Sweat rash
• Heat rash
• Prickly heat

Pathophysiology

When sweating is initiated, the sweat must be able to drain from the ducts. If they are blocked, milaria results.
Children have less highly developed sweat ducts, so the disease is more likely to occur in young children.

 

Management

Initially, medical assistance should not be sought.

Apgar score

A method to quickly assess the health of newborn children and predict risk of infant mortality.

 

History

Invented in 1952 by Dr Virginia Apgar.

Chorioamnionitis

Disease class: Fetal diseases
Disease class: Placenta diseases

Prenatal injuries

Disease class: Pregnancy complications

Fetal erythroblastosis

 Disease class: Fetal diseases

Disease class: Haematologic diseases

Disease class: Immune system diseases
Disease class: Neonatal Diseases

Also known as

• Haemolytic disease of the newborn
• Erythroblastosis fetalis

This is an alloimmune reaction which results in the destruction of foetal erythrocytes by maternal IgG. The result may be mild or severe.

 

Features

• Reticulocytosis
• Anaemia

 

Complications

• Hydrops fetalis
• High at birth or rapidly rising bilirubin
• Prolonged hyperbilirubinemia
• Bilirubin induced neurological dysfunction
• Cerebral palsy
• Kernicterus
• Neutropenia
• Thrombocytopenia
• Haemolytic anemia
• Late onset anaemia

 

Management

• Any haemolytic anaemia must NOT be treated with iron. Can persist up to 12 weeks after birth.

Retinopathy of prematurity

Disease class: Diseases of the premature infant

Disease class: Retinal diseases 

Neonatal sepsis

Disease class: Neonatal diseases

 

Folic acid deficiency

Nutrients

Also known as folate deficiency or vitamin B9 deficiency.

Causes

• Pregnancy
• Breastfeeding

 

Complications 

• Anaemia: macrocytic,  megaloblastic

Investigations

• Serum folate levels

 

See also

• Vitamin B12 deficiency

Developmental dysplasia of the hip

Also known as DDH. Formerly known as congenital dislocation of the hip (CDH).
This refers to a congenital defect in the hip joint (femoral head to acetabulum)

 

Complications

• Formation of a pseudoarthrosis (false joint) 
• Osteoarthritis
• Abnormal gait

 

Investigations

• Ultrasound scan
• X-ray

 

Management 

• Fixation of the hip joint in a stable position to facilitate healthy development: Pavlik harness
• Surgical reduction
• Closed reduction
• Open reduction

Neonatal jaundice

Intraventricular haemorrhage

Also known as IVH.

Necrotising enterocolitis

Disease class: Enterocolitis

Also known as NEC.