Rapid Paediatrics and Child Health

Helen A. Brough, Ram Nataraja

• Publisher: Wiley-Blackwell
• Year: 2011
• Print ISBN:
  9781405193306
• eBook ISBN:
  9781118293393
• Edition: 2
• Topic: Medicine
• Subtopic: Pediatric Medicine

This pocket reference and revision guide is a must for all medical students and junior doctors preparing for major exams in paediatrics and child health or needing a rapid reminder during a clinical attachment. Now thoroughly updated and with the addition of key references, this new edition provides quick access to information on common paediatric problems and disorders, their signs, symptoms, and aetiological agents.

It includes sections on surgical problems, procedures, and general paediatric management such as resuscitation techniques, and features tips on how to take a paediatric history. It presents the contents ordered by system and conditions in alphabetical order, reflects current NICE and paediatric surgery guidelines, and features over 15 new presentations including eczema, food allergies and conduct disorder.

DIABETES MELLITUS (TYPE 1) (DM)

DEFINITION

Chronic metabolic disorder characterised by hyperglycaemia 2° to an absolute or relative deficiency of insulin secretion.

AETIOLOGY

Insulin production in the pancreas by the β-cell of the is lets of Langerhans is disrupted by their absence or destruction. There is a strong genetic influence (50% concordance in monozygotic twins).

Autoimmune: 85% of patients have circulating islet cell antibodies; majority directed against glutamic acid decarboxylase (GAD) within pancreatic β-cells.

Environmental: Viral infections initiate or modify the autoimmune process (mumps, rubella, coxsackie B4, ↑d with cow’s milk protein exposure in infancy, ↑d with late vitamin D supplementation.

Non-type 1 paediatric diabetes: Neonatal diabetes (transient/permanent), maturity-onset diabetes of youth (MODY), obesity-associated paediatric type 2.

ASSOCIATIONS/RELATED

Human leukocyte antigen DR-3 and DR-4, thyroid autoimmune disorders (Graves disease, Hashimoto thyroiditis), viral infections in pregnancy, ↑d maternal, blood group incompatibility, cow’s milk proteins.

EPIDEMIOLOGY

↑ing paediatric incidence: 15/10,000/yr. Peaks at ages 4–6 years and 10–14 years (most common). Racial and geographical variation. M > F.

HISTORY AND EXAMINATION

General: Polyuria (nocturnal enuresis/persistently wet nappies/nappy rash), polydipsia, weight loss, recurrent infections, necrobiosis lipoidica (well-demarcated, red atrophic area, usually on lower leg), blurred vision, fatigue.

Diabetic ketoacidosis (DKA): Abdominal pain, vomiting, dehydration, drowsiness progressing to coma, Kussmaul breathing (rapid deep breathing) 2° to acidosis, acetone smelling breath.

Hypoglycaemia (2° to insulin treatment): Sweating, tremor, palpitations, irritability. Late (progressive) symptoms seizures, coma.

PATHOPHYSIOLOGY

HbA1c: Stable product of non-enzymatic irreversible glycosylation of the β-chain of Hb by plasma glucose.

INVESTIGATIONS

Urinalysis: Ketonuria, glycosuria.

Bloods: Random plasma glucose > 11.0 mmol/l or fasting > 7.0 mmol/l. HbA1c > 7.5%. Islet cell antibodies.

DKA: Low blood bicarbonate, ↓pH, heavy ketonuria.

Hypoglycaemia: Plasma glucose <2.5 mmol/l.

MANAGEMENT

Initial: Home-based or inpatient management according to clinical need, family circumstances and wishes. Home-based diabetes care team with 24-hour telephone advice is as effective as inpatient care.

Parental/patient education: Nature of diabetes, recognition of hypoglycaemia, insulin regime and technique, ↑d insulin requirements in illness, diet and maintenance of active lifestyle.

Total insulin requirement: DNA recombinant human insulin 0.5–1 unit/kg/d in prepubertal children. Insulin resistance in adolescents may require 2 units/kg/d.

Insulin regimes: Short-acting combined with intermediate-acting insulin (BD) given in combined solution by pen. May use TDS or QDS regimes in older children with short-acting insulin before main meals and intermediate insulin ON.

Insulin pump therapy: ↑ing numbers of children are using continuous subcutaneous insulin infusion using long-acting insulin glargine and bolus doses at meal times.

Conservative: Blood glucose monitoring (aim for 4–6mmol/l), dietary changes (high fibre, ↓refined carbohydrate but ↑ complex carbohydrate consumption), psychological support. Medic-Alert bracelet/necklace. HbA1c level <7.5%. Coeliac/thyroid disease monitoring, retinopathy, microalbuminuria and BP screening.

Surgical/future: Stem cell therapy and pancreatic transplant (severe cases).

Diabetic ketoacidosis:

Hypoglycaemia: Mild (food, e.g. apple/sandwich), moderate (PO glucose drink), severe (intrabuccal Hypostop/IV dextrose).

COMPLICATIONS

Acute: Hypoglycaemia, hyperglycaemia and DKA.

Chronic: Microvascular (retinopathy, neuropathy, nephropathy, cataracts) and macrovascular (ischaemic heart disease, hypertension, CVA) disease.

PROGNOSIS

Depends on quality of glycaemic control. ↑d morbidity and mortality with DKA.

DOWN SYNDROME (TRISOMY 21 )

DEFINITION

Third extra non-sex (autosomal) chromosome 21. Normally homologous pairs.

AETIOLOGY

Non-dysjunction at meiosis (95%): Extra maternal chromosome : karyotype 47XX + 21 or 47XY + 21. Increased incidence of trisomy 21 2° to non-dysjunction with increasing maternal age, especially >35 years and is independent of paternal age.

Robertsonian translocation (4%): Chromosome 21 usually translocated onto chromosome 14.

Mosaicism (1%): Some cells normal, some trisomy 21 due to non-dysjunction during mitosis after fertilisation; usually less severely affected.

ASSOCIATIONS/RELATED

Congenital heart disease (40%): AVSD, VSD, ASD, Fallot tetralogy, PDA.

Gastrointestinal: Anal, oesophageal and duodenal atresia (one-third of infants with duodenal atresia are syndromic), Hirschsprung’s disease.

Chronic secretory otitis media: Gives rise to conductive hearing loss.

Others: Recurrent respiratory infections, cataracts, squints, hypothyroidism.

EPIDEMIOLOGY

1/700 live births. Most common genetic cause of learning difficulties. Second affected child is 1/200 if >35 and double the age-specific rate if <35.

HISTORY AND EXAMINATION

Most cases of Down syndrome are now diagnosed antenatally (see Investigations).

General: Neonatal hypotonia, short stature.

Developmental: Mild–moderate learning disability (IQ 25–70, with social skills exceeding other intellectual functions).

Craniofacial: Microcephaly, brachycephaly (shortness of skull), round face, epicanthic folds, upward sloping palpebral fissures, protruding tongue, flat nasal bridge, small ears, excess skin at back of neck, atlantoaxial instability.

Eyes: Strabismus, nystagmus, Brushfield spots in iris, cataracts.

Limbs: Fifth finger clinodactyly, single palmar crease, wide gap between first and second toes, hyperflexible joints in infants.

CVS: Murmurs dependent on congenital heart disease, arrhythmias, signs of heart failure.

GI: Constipation.

PATHOPHYSIOLOGY

See Aetiology.

INVESTIGATIONS

Antenatal screening: Maternal age combined with the ‘triple test’ at 19/40 on maternal serum: AFP (↓), unconjugated oestriol (↓) and β-hCG (↑).

Confirmation of diagnosis: Prenatal examination of fetal cells from amniocentesis or chorionic villus sampling, postnatal chromosomal analysis.

Screening for complications: Echocardiography, TFTs, hearing and vision tests.

MANAGEMENT

Multidisciplinary approach: Parental education and support, genetic counselling, IQ testing with appropriate educational input.

Medical: Antibiotics in recurrent respiratory infections, thyroid hormonefor hypothyroidism.

Surgical: Congenital heart defects, oesophageal/duodenal atresia.

COMPLICATIONS

Decreased fertility, increased risk of leukaemia; transient myeloproliferative disorder and AML (mutations in the haematopoietic transcription factor gene, GATA1). ↑d incidence of Alzheimer’s disease by 40 years (amyloid protein coding gene located on chromosome 21).

PROGNOSIS

Antenatal: 75% of trisomy 21 spontaneously abort.

Childhood: 15–20% of Down syndrome children die <5 years, usually due to severe congenital heart disease.

Adulthood: 50% survive longer than 50 years but undergo premature ageing.

DUCHENNE/BECKER MUSCULAR DYSTROPHY

DEFINITION

X-linked recessive degenerative muscle disorders, characterised by progressive muscle weakness and wasting of variable distribution and severity.

DMD: Rapidly progressive form.

BMD: Slowly progressive form.

AETIOLOGY

DMD: Gene mutations on Xp21 result in the absence of dystrophin (<5% of normal). Two-thirds are inherited, one-third are de novo mutations. Dystrophin protein forms part of a membrane-spanning protein complex of the muscle sarcolemma. This connects the cytoskeleton to the basal lamina.

BMD: Exon deletions exist in the dystrophin gene Xp21 in 70% of cases. Dystrophin levels are 30–80% of normal. Abnormal translation of the dystrophin gene produces abnormal but partially functional dystrophin.

ASSOCIATIONS/RELATED

Family history.

EPIDEMIOLOGY

DMD: 1/3000 live male births.

BMD: 3–6/100,000 live male births.

HISTORY

DMD: Child appears healthy at birth. Onset of symptoms from 1–6 years with a waddling gait, toe-walking, difficulty running, climbing stairs or getting up from a seated or lying position. By 10 years braces are required for walking, by 12 years most children are wheelchair bound. In 20% there is associated learning disability.

BMD: Symptoms appear around 10 years and are a milder version of those in DMD.

EXAMINATION

Distribution of muscle weakness: Symmetrical pelvic and shoulder girdle weakness.

Calf muscle pseudohypertrophy: Excess adipose replacement of muscle fibres.

Gower’s sign: Child pushes hands down against thighs to overcome proximal muscle and pelvic girdle weakness to stand up from seated position on floor.

PATHOPHYSIOLOGY

Variation in muscle fibre size, segmental necrosis of fibre groups. Initially, fibre regeneration occurs, but this fails and → loss of muscle and replacement by adipose cells and connective tissue.

INVESTIGATIONS

Bloods: ↑ CK present from birth.

Genetic testing.

EMG: Establishes myopathic nature; excludes neurogenic causes of muscle weakness.

Muscle biopsy: Immunostaining for dystrophin.

Lung function: ↓ vital capacity (VC) 2° to ↓ muscle strength leads to hypoventilation and atelectasis.

MANAGEMENT

Multidisciplinary approach

Medical:

1. Oral glucocorticoids improve muscle strength over 6 months to 2 years. Observational studies suggest improved function over 5 years

2. Early aggressive management of cardiomyopathy

3. Respiratory care and assisted respiration may be required at a later stage

4. Immunisations : usual + pneumococcal and influenza

5. Prophylactic antibiotics for children with low VC.

Orthopaedic: Contracture correction and scoliosis repair to maintain mobility and preserve lung function. Scapular fixation.

Occupational/physiotherapy: Moderate physical exercise, mobility aids, night splints, braces and spinal supports.

Education: Mainstream with support or special schools for children with physical disabilities and/or learning disability.

Genetic counselling of female family members: CVS is 95% accurate.

Psychological:...

Table of contents

• Cover
• Title
• Copyright
• preface
• List of Abbrevations
• ACNE VULGARIS
• ALLERGIC RHINITIS (AR)
• ANAEMIA, APLASTIC
• ANAEMIA, HAEMOLYTIC
• ANAEMIA, IRON DEFICIENCY
• ANAEMIA OF PREMATURITY
• ANORECTAL MALFORMATIONS (ARM)
• APPENDICITIS, ACUTE
• ASTHMA
• ATOPIC ECZEMA
• ATRIAL & ATRIOVENTRICULAR SEPTAL DEFECTS (ASD & AVSD)
• ATTENTION DEFICIT HYPERACTIVITY DISORDER (ADHD) 19
• AUTISTIC SPECTRUM DISORDER
• BREATH-HOLDING ATTACKS
• BRONCHIOLITIS, ACUTE
• CEREBRAL HAEMORRHAGE
• CEREBRAL PALSY
• CHRONIC LUNG DISEASE (CLD) OF PREMATURITY
• CLEFT LIP (CL) AND PALATE (CLP)
• COARCTATION OF THE AORTA (COA)
• COELIAC DISEASE
• CONDUCT DISORDER
• CONGENITAL ADRENAL HYPERPLASIA
• CONGENITAL HYPOTHYROIDISM
• CONGENITAL INFECTIONS
• CONSTIPATION
• COW’S MILK PROTEIN ALLERGY
• CROUP (ACUTE LARYNGOTRACHEOBRONCHITIS)
• CRYPTORCHIDISM
• CYSTIC FIBROSIS (CF)
• DELAYED PUBERTY
• DEPRESSION
• DEVELOPMENTAL DYSPLASIA OF THE HI P (DDH)
• DIABETES MELLITUS (TYPE 1) (DM)
• DOWN SYNDROME (TRISOMY 21 )
• DUCHENNE/BECKER MUSCULAR DYSTROPHY
• ENCEPHALITIS
• EPIGLOTTITIS, ACUTE
• EPILEPSY IN CHILDHOOD
• EXOMPHALOS AND GASTROSCHISIS
• FAECAL SOILING (ENCOPRESIS)
• FAILURE TO THRIVE
• FEBRILE SEIZURES
• FOOD ALLERGY
• FRACTURES
• FUNCTIONAL ABDOMINAL PAIN (FAP)
• FUNGAL SKIN INFECTIONS
• GASTROENTERITIS
• GASTRO-OESOPHAGEAL REFLUX DISEASE (GORD)
• GENETIC SKELETAL DYSPLASIAS
• GLOBAL DEVELOPMENTAL DELAY
• GLOMERULONEPHRITIS, ACUTE
• GROUP B STREPTOCOCCAL (GBS) INFECTION
• HEAD LICE (PEDICULOSIS)
• HEARING IMPAIRMENT
• HEART FAILURE
• HERNIA, CONGENITAL DIAPHRAGMATIC (CDH)
• HERNIAS, INGUINAL
• HIRSCHSPRUNG DISEASE
• HUMAN IMMUNODEFICIENCY VIRUS (HIV)
• HYDROCEPHALUS
• HYPERTHYROIDISM
• HYPOGLYCAEMIA IN NEONATES
• HYPOSPADIAS
• HYPOXIC–ISCHAEMIC ENCEPHALOPATHY (HI E )
• IMPETIGO
• INADVERTENT POISONING
• INBORN ERRORS OF AMINO ACID METABOLISM
• INBORN ERRORS OF CARBOHYDRATE METABOLISM
• INFLAMMATORY BOWEL DISEASE
• INTRAVENTRICULAR HAEMORRHAGE (IVH)
• INTUSSUSCEPTION
• JUVENILE IDIOPATHIC ARTHRITIS (JIA)
• KAWASAKI DISEASE
• KLINEFELTER SYNDROME
• LACTOSE INTOLERANCE
• LEGG-CALVÉ-PERTHES DISEASE
• LEUKAEMIA, ACUTE LYMPHOBLASTIC (ALL)
• LEUKAEMIA, ACUTE MYELOID (AML)
• LIMPING CHILD
• LIVER DISEASE, CHRONIC
• LIVER FAILURE, ACUTE
• LYMPHOMA, HODGKIN
• LYMPHOMA, NON-HODGKIN (NHL)
• MALROTATION OF THE INTESTINE
• MARFAN SYNDROME
• MEASLES, MUMPS, RUBELLA (MMR)
• MECKEL’S DIVERTICULUM (MD)
• MECONIUM ASPIRATION SYNDROME
• MENINGITIS
• MESENTERIC ADENITIS
• MYOTONIC DYSTROPHY
• NEAR-DROWNING
• NECROTISING ENTEROCOLITIS (NEC)
• NEONATAL JAUNDICE
• NEPHROTIC SYNDROME
• NEUROCUTANEOUS SYNDROMES
• NOCTURNAL ENURESIS
• OBESITY IN CHILDREN
• OESOPHAGEAL ATRESIA AND TRACHEO-OESOPHAGEAL FISTULA
• OSGOOD-SCHLATTER SYNDROME
• OTITIS MEDIA, ACUTE AND CHRONIC
• PATENT DUCTUS ARTERIOSUS (PDA)
• PERSISTENT PULMONARY HYPERTENSION (PPH)
• PHIMOSIS AND FORESKIN DISORDERS
• PNEUMONIA
• PNEUMOTHORAX
• PRECOCIOUS PUBERTY (COMPLETE)
• PRECOCIOUS PUBERTY (PARTIAL)
• PRIMARY IMMUNE DEFICIENCY
• PULMONARY VALVE STENOSIS
• PYLORIC STENOSIS
• RENAL FAILURE, ACUTE (ARF)
• RENAL FAILURE, CHRONIC (CRF)
• RESPIRATORY DISTRESS SYNDROME (RDS)
• RETINOPATHY OF PREMATURITY (ROP)
• RHEUMATIC FEVER
• SAFEGUARDING CHILDREN
• SCABIES
• SCHOOL REFUSAL
• SEPTICAEMIA
• SHORT STATURE
• SICKLE CELL ANAEMIA
• SLEEP-RELATED DISORDERS
• SMALL BOWEL ATRESIA
• STICKY EYE/CONJUNCTIVITIS
• SUDDEN INFANT DEATH SYNDROME (SIDS)
• SUPRAVENTRICULAR TACHYCARDIA (SVT)
• TESTICULAR TORSION
• TETRALOGY OF FALLOT
• THALASSAEMIA
• TICS
• TRANSIENT TACHYPNOEA OF THE NEWBORN (TTN)
• TRANSPOSITION OF THE GREAT ARTERIES
• TURNER SYNDROME
• UPPER RESP IRATORY TRACT INFECTION (URTI )
• URINARY TRACT ANOMALIES
• URINARY TRACT INFECTION
• VARICELLA (CHICKENPOX)
• VENOUS ACCESS
• VENTRICULAR SEPTAL DEFECT (VSD)
• VISUAL IMPAIRMENT
• VITAMIN D DEFICIENCY
• WHOOP ING COUGH (PERTUSSIS)
• APPENDIX 1 Taking a History in Paediatrics
• APPENDIX 2 Neonatal Resuscitation
• APPENDIX 3 Formal Assessment of the Neonate at Birth
• APPENDIX 4 Examination of the Newborn
• APPENDIX 5 Breastfeeding Versus Bottlefeeding
• APPENDIX 6 Infant Feeding
• APPENDIX 7 Paediatric Resuscitation
• APPENDIX 8 Developmental Stages in Children
• APPENDIX 9 Immunisation Schedule
• APPENDIX 10 Child Health Promotion Programme
• APPENDIX 11 Status Epilepticus
• Further Reading
• Eula