Enlarged Anterior Fontanelle

Enlarged Anterior Fontanelle: Excerpt from In A Page: Pediatric Signs and Symptoms

It is important to know the standards of anterior fontanelle for age. All newborn infants have a palpable anterior fontanelle (usually closes between 7 and 19 months, average 13 months). Some also have a posterior fontanelle that usually closes by 3 months. The mean diameter of the anterior fontanelle at birth is 2 cm.

Differential Diagnosis

• Hypothyroidism
  –Primary congenital hypothyroidism occurs in 1/4,000 live births, more in females (2:1)
  –Ectopic thyroid gland is the most common etiology; may also be caused by thyroid dysgenesis, thyroid dyshormonogenesis, hypothalamic-pituitary hypothyroidism
  –Physical findings include prolonged jaundice, macroglossia, doughy skin, umbilical hernia, weak hoarse cry, hypotonia, poor feeding, sparse hair, dry skin, constipation, abdominal distension, poor growth, developmental delay, slow deep-tendon reflexes, broad flat nose
  –Acquired hypothyroidism is most commonly due to iodine deficiency or chronic autoimmune thyroiditis

• Increased intracranial pressure
  –Usually accompanied by increased head circumference
  –Hydrocephalus
  –Trauma
  –Acute CNS infections (meningitis or encephalitis)

• Skeletal dysplasias
  –Rickets
  –Achondroplasia
  –Osteogenesis imperfecta

• Genetic/chromosomal disorders
  –Down syndrome (trisomy 21): Associated with mental retardation, hypotonia, epicanthal folds, slanted palpebral fissures, small ears, Brushfield spots of iris, clinodactyly, single palmar crease, cardiac defects, brachycephaly, protruding tongue, short neck, large space between first and second toes
  –Apert syndrome
  –Trisomy 13
  –Trisomy 18
  –Silver-Russell syndrome
  –Cleidocranial dysostosis
  –Kenny syndrome

• Fetal hydantoin syndrome
• Intrauterine growth retardation
• Zellweger (cerebrohepatorenal) syndrome
• Hurler syndrome (type I mucopolysaccharidosis)

Workup and Diagnosis

• History
  –Birth history, including maternal health and medications, gestational age, perinatal fractures
  –Family history of any genetic or thyroid disease
  –History of trauma
  –Symptoms of hypothyroidism
• Physical exam
  –Growth parameters, including head circumference and growth percentiles
  –Signs of hypothyroidism
  –Dysmorphism associated with genetic abnormalities
• Labs
  –Check state newborn screening test results
  –Thyroid function tests (TSH, free T4)
  –Vitamin D, calcium, alkaline phosphatase levels for rickets
  –Chromosomes as indicated by H&P
  –Unrinary glycosaminoglycans for Hurler syndrome
  –Culture of blood and cerebrospinal fluid, including viral culture
  –Osteogenesis imperfecta: Molecular testing
  • Studies
    –Imaging of the head as indicated by H&P
    –X-rays of the skeletal system for rickets (rachitic rosary of the ribs, cupping of long bone metaphyses)
    –Thyroid scan or ultrasound

Treatment

• For hypothyroidism, the treatment is thyroid replacement therapy, typically determined by endocrinologist
• Hydrocephalus is treated, if needed, with neurosurgery and ventriculoperitoneal shunting
• Rickets is prevented with adequate vitamin D intake and moderate sun exposure; treated with calcium, calcitriol and/or vitamin D
• Although no specific treatment exists for the multiple genetic disorders, genetic counseling is important for the family regarding the patient's prognosis and future pregnancies

Book Source Details

• Book Title: In A Page: Pediatric Signs and Symptoms
• Author(s): Jonathan E. Teitelbaum, Kathleen O. Deantonis, Scott Kahan
• Year of Publication: 2007
• Copyright Details: In A Page: Pediatric Signs and Symptoms, Copyright © 2007 Lippincott Williams & Wilkins.

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Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

More About This Book: Title: In A Page: Pediatric Signs and Symptoms Authors: Jonathan E. Teitelbaum, Kathleen O. Deantonis, Scott Kahan Publisher: Lippincott Williams & Wilkins Copyright: 2007 ISBN: 1-4051-0427-9

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