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1. Malformations of the Musculoskeletal System in Children — Muscular Torticollis

Overview

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Muscular Torticollis

Definition

Classification

Etiology & Pathogenesis (CMT)

• Proposed mechanisms: birth trauma (forceps delivery, difficult vertex or breech delivery) causing a compartment syndrome or hematoma of the SCM → ischemic fibrosis
• Intrauterine malposition (oligohydramnios, prolonged lateral neck flexion) → pressure ischemia
• The fibrotic SCM may be palpable as a sternomastoid tumor (pseudotumor) in the first weeks of life — a firm, fusiform, non-tender mass in the mid-belly of the SCM, appearing at 2–4 weeks and typically regressing by 4–8 months

Clinical Features

Diagnosis

• Primarily clinical: head posture, palpation of SCM, cervical ROM assessment
• Ultrasonography: confirms fibrosis/thickening of SCM; differentiates from other neck masses; non-invasive, preferred in infants
• Plain X-ray (cervical spine): to exclude osseous causes (hemivertebrae, atlanto-axial instability)
• MRI: reserved for neurogenic or atypical cases

Treatment

• Physiotherapy / stretching exercises: mainstay; gentle passive stretching of SCM 3–5×/day; 90–95% success if started before 1 year of age
• Positioning therapy: encourage infant to turn head toward affected side during play/feeding
• Botulinum toxin A (BTX-A) injection: for resistant cases > 1 year with persistent fibrosis; weakens SCM to facilitate stretching

• Bipolar SCM release: division of SCM at both sternal and clavicular heads (lower pole) ± upper mastoid attachment
• Endoscopic SCM release: minimally invasive option in specialized centers
• Postoperative physiotherapy and splinting essential for ≥6 months

Prognosis

• Excellent if treated early (< 1 year): > 90% full resolution
• Delayed treatment risks permanent facial asymmetry, cervical scoliosis, and basilar skull deformity

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Other Common Musculoskeletal Malformations in Children (Overview)

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2. Hernias: Anterior Abdominal Wall Hernias & Inguinal Hernias

Definition

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Hernias of the Anterior Abdominal Wall

Umbilical Hernia

• Mechanism: Failure of the umbilical ring to close after birth
• Incidence: Very common; more frequent in premature infants and African-American children; associated with hypothyroidism, Down syndrome, Beckwith-Wiedemann syndrome
• Clinical features: Soft, reducible bulge at the umbilicus; increases with crying/straining; usually asymptomatic
• Management:
  • Watchful waiting until age 4–5 years (most close spontaneously by age 2–3)
  • Surgery (umbilicoplasty) if persists > age 4–5, defect > 2 cm, symptomatic, or incarcerated

Epigastric Hernia

• Protrusion through a defect in the linea alba between the xiphoid process and umbilicus
• Usually contain preperitoneal fat (not bowel)
• Often small, firm, tender; may be multiple
• Do not resolve spontaneously → elective surgical repair

Paraumbilical Hernia

• Defect adjacent (not through) the umbilical ring; more common in adults and obese patients
• Higher risk of incarceration than umbilical hernias
• Treatment: surgical repair

Spigelian Hernia

• Protrudes through the spigelian fascia (lateral edge of rectus abdominis, along the semicircular line of Douglas)
• Often interparietal (between layers); may be occult clinically
• Diagnosis often requires CT or ultrasound
• Treatment: surgical repair (laparoscopic or open)

Diastasis Recti

• Midline widening of linea alba without a fascial defect (not a true hernia)
• Common postpartum; may be present in infants
• Usually asymptomatic; resolves spontaneously in infants

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Inguinal Hernias — Detailed (Bailey & Love, p. 1088)

Anatomy Recap

Classification

• Indirect (lateral): Congenital; patent processus vaginalis; the sac descends alongside the spermatic cord; may extend into scrotum (complete hernia)
• Direct (medial): Acquired; weakness in the floor of the inguinal canal (Hesselbach's triangle)
• Femoral hernia: Through femoral canal; below and lateral to pubic tubercle; more common in women; high strangulation risk

Epidemiology in Children

• Incidence: 1–3% of children; M:F ratio ~6:1
• Right-sided more common (70%) due to later descent of right testis
• Virtually all inguinal hernias in children are indirect (due to patent processus vaginalis)
• Bilateral in ~10–15% of cases

Clinical Features

Diagnosis (Bailey & Love, p. 1088)

• Primarily clinical in straightforward cases
• Cough impulse: reducible bulge at deep ring or along inguinal canal on coughing
• Deep ring occlusion test: compress deep ring → indirect hernia controlled; direct hernia not controlled
• Ultrasonography: adjunct when diagnosis uncertain; also detects contralateral patent processus vaginalis
• Differentiating indirect vs. direct (as per Bailey & Love):
  • Compress just above the midpoint of the inguinal ligament (deep ring location)
  • If controlled → likely indirect
  • If appears medial despite pressure → likely direct
  • Even experienced surgeons may find distinction difficult pre-operatively

Differential Diagnosis of Groin Swelling

Management

• All inguinal hernias in children require surgical repair — no watchful waiting (high risk of incarceration in infants)
• Herniotomy (ligation and excision of sac only, without mesh): standard in children; the posterior wall is intact and normal
• Timing: Elective repair as soon as diagnosed; urgent repair if < 6 months old (incarceration risk ~30% in first 6 months)
• Laparoscopic herniotomy: increasingly used; allows simultaneous inspection of the contralateral side

• Mesh repair (Lichtenstein tension-free hernioplasty, TEP, TAPP) preferred
• Direct hernias rarely incarcerate; indirect hernias have higher strangulation risk

Complications of Untreated/Complicated Inguinal Hernia

Postoperative Complications of Repair

• Wound infection, hematoma
• Recurrence (< 1% in children with herniotomy)
• Injury to vas deferens or spermatic vessels → subfertility
• Chronic groin pain (more relevant in adult mesh repairs)

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Summary Table