Growing pains in children

Growing pains in children

Episodes of generalized pain in the lower limbs, referred to as ‘growing pains’ or nocturnal idiopathic pain, are common in preschool and school-aged children.

The pain often wakes the child from sleep and settles with massage or comforting.

The condition is poorly understood. Features to be fulfilled for this diagnosis are often referred to as the ‘Rules of Growing Pains’, which are:

- Age: range 3–12 years

- Pains symmetrical in lower limbs and not limited to joints.

- Pain often follows a day with exercise or other physical activities.

- pains never present at the start of the day after waking up

- physical activities not limited; no limp

- Physical examination normal (including pGALS), with the exception of joint hypermobility in some, and otherwise well.

- Infantile Colic.

Infantile Colic

• The conventional definition of colic is the Wessel’s "Rule of three" which mandates an otherwise healthy baby "important word" with crying spells that occur for at least 3 h a day, 3 times a wk for 3 consecutive weeks and These infants are typically healthy and thriving well.
• The recently modified definition includes all of the following:

1.  Paroxysms of irritability, fussing or crying that occur without a cause
2. Episodes lasting 3 or more hours per day and occurring at least 3 d per week for at least 1 wk.
3. Absence of failure to thrive.

- Organic Causes of Excessive Crying in infancy.

Organic Causes of Excessive Crying in infancy

Organic diseases account for 5 to 10% of infants presenting with incessant crying.
1.CNS:
– CNS abnormality (Chiari type 1)
– Infantile migraine
– ↑ICP (trauma, hydrocephalus, intracranial hemorrhage, Mass)
– Seizure
– Meningitis
– Encephalitis
2. Eyes, Ears, Nose, Throat:
– Choanal atresia
– Otitis externa
– Otitis media
– Corneal abrasion
– Glaucoma
– Teething
– Gingivostomatitis
– Thrush
– Foreign body
3.Cardiac:
– Tachyarrhythmia e.g SVT
– myocarditis,
– congestive cardiac failure
4.GI:
– Constipation
– Cow’s milk protein intolerance
– GERD
– Lactose intolerance
– Gastrointestinal obstruction (intussusception, volvulus, pyloric stenosis, Hirschsprung disease)
– Anal fissure
– Strangulated Hernia
– Abdominal trauma
– Peritonitis 
5.Respiratory:
– Airway obstruction (croup, foreign body)
– Upper respiratory tract infection
– Lower respiratory tract infection (pneumonia, bronchiolitis)
6. Genitourinary System:
– Testicular torsion
– Ovarian torsion
– Urinary tract infection
– Tight phimosis
7.Musculoskeletal system:
– Infection ( septic arthritis, Osteomyelitis)
– Fracture limbs.
– Others—pulled elbow, caffey’s disease
8.Skin:
– Cellulitis
– Impetigo
– Tourniquet syndrome (extremities, penis, clitoris)
– Dermatitis (e.g Napkin)
– Insect bites
– Minor injury
9.Other causes:
– Narcotic Withdrawal Syndrome
– Drugs (ephedrine, amphetamine, clonezepam, antihistaminics)
– Vaccine reaction
– Inborn error of metabolism
– Sepsis
– Sickle cell crisis
– Physical abuse

- Factors affecting gene expression (in AD disorders)

Factors affecting gene expression

 

 (in Autosomal dominant disorders)

1.     Pleiotropy

2.     Variable expressivity

3.     Reduced penetrance

4.     New mutations

5.     Homozygosity

6.     Knudson two-hit hypothesis

Pleiotropy

·        A single gene (AD) that may give rise to ≥ 2 apparently unrelated effects.

·        In tuberous scelerosis, some affected individuals may have all features (learning difficulties, epilepsy, facial rashes,…)

·        Pleiotropy can result from different mutations in the same gene

·        AD traits may involve only one organ of the body i.e. the eye in congenital cataract. 

Variable expressivity  

·        Striking variation in the clinical features of AD disordes from person to person , even in the same family.

·        In AD polycystic kidney disease, some affected individuals develop renal failure in early adulthood whilst others have just a few renal cysts without affection of renal function.

Reduced Penetrance

·        Penetrance describes the frequency with which phenotypic manifestation of a gene are expressed.

·        A highly penetrant gene (100% penetrance) will express itself almost regardless of the effect of the environment or other interacting gene.

·        This phenomenon explains apparent skipped generations in certain pedigrees.

·        Reduced penetrance when the gene produces characteristic features much less often.

Factors Affecting Penetrance:

1.     Modifier genes.

2.     Hormonal/ reproductive factors.

3.     Response to DNA damage.

4.     Carcinogens (Not everyone with an altered gene develops cancer).

- The Syndrome of Pyogenic Arthritis with Pyoderma Gangrenosum and Acne.

The Syndrome of Pyogenic Arthritis with Pyoderma Gangrenosum and Acne

PAPA syndrome is a rare autosomal dominant disorder caused by mutations in PSTPIP1, a gene located on chromosome 15 that encodes the cytoskeletal proline serine threonine phosphatase-interacting (PSTPIP) protein. 

Clinical manifestations:

• Recurrent episodes of sterile, pyogenic arthritis that leads to erosions and joint destruction, and appears to develop spontaneously or after minor trauma. The onset of arthritis is often in early childhood.
• Cutaneous manifestations tend to develop in adolescence, at which time patients are prone to developing severe cystic acne.
• PAPA patients commonly develop ulcerating pyoderma gangrenosum lesions  and some develop pathergy reactions

- PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS AND ADENITIS (PFAPA).

PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS AND ADENITIS (PFAPA)

PFAPA is the commonest periodic fever syndrome in childhood.

It usually presents between the ages of 2 and 5 yr.

It is unlikely to be due to a single gene .

Diagnosis:

Diagnosis is clinical, in the absence of evidence of infections or cyclic neutropenia:

• Regular recurrent fever of early onset.
• Oral aphthous ulcers.
•  Cervical lymphadenopathy.
• Pharyngitis.
•  less commonly, headache, abdominal pain, and arthralgia.

The episodes last 4-6 days, regardless of antipyretic or antibiotic treatment, and often occur with clock-like regularity on 3-6 wk cycles.

Children are in a good health between episodes.

Fever cycles usually stops by the teenage years.

- Cryopyrin-associated periodic syndromes.

Cryopyrin-associated periodic syndromes (CAPSs)

CAPS includes a spectrum of conditions ranging from mild to severe, and includes three syndromes:

• FCAS.
•  MWS.
• CINCA/NOMID.

INCIDENCE/AETIOLOGY:

CAPS is extremely rare, with an incidence of probably <1 in 500,000.

CAPS is due to mutations in NLRP3/CIAS1 on chromosome 1q44, that encodes the key component of IL-1 activation complex: the inflammasome.

A dominant inheritance occurs in about 75% of patients with FCAS and MWS, whereas CINCA is usually due to de novo mutations 

.

CLINICAL PRESENTATION:-

Onset is in early infancy, often from birth; there is no sex bias.

Children present with a characteristic appearance of flattened nasal bridge and bossing of the skull.

•  FCAS: attacks of fever generally begin 1-3 hr after generalized cold exposure, urticarial rash, arthralgia and conjunctivitis, episodes are self-limited and generally resolve within 24 hr.
• MWS: daily attacks (afternoon/evenings), Acute symptoms include fever, urticarial rash, arthralgia and myalgia, conjunctivitis, headache and fatigue.Rash can be persistent.Deafness occurs later and is often missed in the early stages.
• CINCA/NOMID: continuous inflammation with additional severe chronic aseptic meningitis, raised intracranial pressure, uveitis, deafness and arthropathy.

- Hyperimmunoglobulinemia D with periodic fever syndrome.

Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS)

/ Mevalonate kinase deficiency (MKD)

INCIDENCE/AETIOLOGY

MKD/HIDS is extremely rare. Most patients are North European, many in Holland (it was called ‘Dutch fever’), but can occur in other ethnicities.

The disease is caused by mutations of MVK, a gene located on the long arm of chromosome 12 that encodes mevalonate kinase (MK).

CLINICAL PRESENTATION

• Onset of MKD/HIDS within the 1st 6 mo of life.
• Children experience irregular attacks that may be precipitated by vaccination, minor trauma, surgery or stress.
• Attacks last 4–7 days.
•  Fever, unilateral or bilateral cervical lymphadenopathy, abdominal pain with vomiting and diarrhea, headache, arthralgia, large joint arthritis, erythematous macules and papules and aphthous ulcers are common.
• A history of high fevers or a full attack with vaccination is often obtained

- TUMOUR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME (TRAPS).

TUMOUR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME

(TRAPS)

INCIDENCE/AETIOLOGY

It occurs in many ethnic groups with presentation in the 1st decade of life.

TRAPS is caused by AD, gene mutations in TNFRSF1A on chromosome 12.

Clinical Manifestations:-

Attacks are often far less distinct than in FMF, precipitated by minor stress, travel, menstrual cycle or diet.

Prolonged attacks occur, lasting 1–3 weeks (symptoms are near continuous in 30%). 50% give no clear family history.

Features include:

• Fever >95%.
• Arthralgia and myalgia in 80%, often with centripetal migration.
• Abdominal pain in 80%.
• Rash in 70%: erythematous, oedematous plaques, discrete reticulate or serpiginous lesions that on biopsy contains superficial and deep perivascular infiltrates of mononuclear cells.
• Headache, pleuritic pain, lymphadenopathy, conjunctivitis and periorbital oedema.
• Symptoms are accompanied by a marked acute phase response.

- FAMILIAL MEDITERRANEAN FEVER.

FAMILIAL MEDITERRANEAN FEVER

Def: Autosomal recessive autoinflammatory disease usually characterized by recurrent 1-3 day self-limited episodes of fever, serositis, mono- or pauciarticular arthritis, or an erysipeloid rash, sometimes complicated by AA amyloidosis.

Etiology:-

Caused by mutations in MEFV, a 10 exon gene located on the short arm of chromosome 16 encoding a 781 amino acid protein denoted pyrin.

FMF occurs primarily among ethnic groups of Mediterranean ancestry, most commonly Jews, Turks, Armenians, Arabs, and Italians.

Most patients present with symptoms in childhood, with 90% of patients presenting prior to the age of 20 yr.

Clinical Manifestations:-

Attacks occur irregularly, precipitated by minor physical or emotional stress, menstrual cycle, diet or infection. Attacks resolve within 72 hours.

Between flares, patients are generally symptom-free but may have persistent elevation of their inflammatory markers.

The attack frequency can vary from weekly to 1-2 flares/year.  

Clinical features includes:

•  Fever :- Temperatures rise rapidly to 38–40 °C (100.4–104 °F)..
• Serositis presenting as pleuritic chest pain or severe abdominal pain (peritonitis in 90% of patients and may mimic an acute surgical abdomen), arthritis, and rash. The pleural pain is typically unilateral, whereas the abdominal pain can be generalized or localized to 1 quadrant, similar to other forms of peritonitis.
• During an episode they often complain of constipation, secondary to the peritoneal inflammation leading to a temporary paralytic ileus, followed by diarrhea as the inflammation fades.
• Arthritis occurs primarily in the large joints, may be accompanied by large, neutrophil-rich effusions, and is usually nonerosive and nondestructive.
• The hallmark cutaneous finding is an erysipeloid erythematous rash that overlies the ankle or dorsum of the foot .
• Scrotal pain caused by inflammation of the tunica vaginalis testis,
• febrile myalgia,
• Exerciseinduced myalgia (particularly common in children),
• Association with various forms of vasculitis, including Henoch-Schönlein purpura in as many as 5% of pediatric patients.

- The Fenton growth chart for preterm infants.

The Fenton growth chart for preterm infants.

  “The Fenton growth chart for preterm infants has been revised to accommodate the World Health Organization Growth Standard and reflect actual age instead of completed weeks, in order to improve preterm infant growth monitoring.”

These growth charts:
Are: “commonly used in NICUs today” -  American Academy of Pediatrics 2014 Nutrition Handbook 

To download PDFs of growth CHARTS..  
2013 Preterm Growth Chart for Girls 
2013 Preterm Growth Chart for Boys 

Adapted from 2013 GROWTH CHART

- Shorter Antibiotic Treatment for Otitis Media!

Shorter Antibiotic Treatment for Otitis Media!

- Paediatric syndromes.

A Medical syndrome is defined as :- 
A group of symptoms and signs that collectively indicate or characterize a disease, psychological disorder, or other abnormal condition. There are a lot of medical syndromes and we try to list some of them:-

1. Down syndrome (click here).
2. Wolf-Hirschhorn Syndrome (click here).
3. Bartter syndrome (click here).
4. Liginac syndrome (click here) 
5. Lowe syndrome (click here)
6. Alport syndrome (click here)

- Pediatrics.

Pediatrics (also spelled paediatrics or pædiatrics) is the branch of medicine that deals with the medical care of infants, children, and adolescents, and the age limit usually ranges from birth up to 18 (in some places until completion of secondary education, and until age 21 in the United States).

Differences between adult and pediatric medicine:

The body size differences are paralleled by maturational changes. The smaller body of an infant or neonate is substantially different physiologically from that of an adult.