Galactosemia

GalactosemiaHumans are complex creatures and caring for them is challenging (to say the least). In order to provide superior care for all of the kids we see, we need to know the critical (ex, SHOCK, Difficult Airway, and Necrotizing Enterocolitis), the common (ex, Bronchiolitis, Asthma, and Gastroenteritis), and the unusual (ex, Gradenigo’s, Moyamoya, and ALCAPA). We also have to remember biochemistry and genetics. Yes, even in the ED, these topics come up. Recently, we discussed a primer on infant formulas, one of which is a Soy-based formula. One indication for such a formula is an important condition for us to recall – Galactosemia:

 

Galactosemia: Basics

  • A common Inborn Error of Metabolism(IEM)
    • Individual IEM are rare, but collectively they are common.
    • Galactosemia rates in the US are ~1 in 50,000.
  • Characterized by elevated levels of galactose in the blood. [Lavine, 2015]
    • Infants get galactose from digesting the sugar in milk – lactose.
    • Lactose is a disaccharide sugar (glucose and galactose).
  • There are several forms, but the most classic is due to deficiency of Galatose-1-Phosphate Uridyltransferase (GALT).
  • Toxic metabolites build up and have direct effects on the liver and other organs. [Burton, 1998]
  • Consumption of lactose will lead to symptoms quickly. [Lavine, 2015]
    • Classic galactosemia usually presents within the first 2 weeks of life (great, just when all of the other oddities occur).
    • May become symptomatic even during the first week of life.
  • Despite avoiding galactose, can still have long term sequela. [Lavine, 2015]
    • Cognitive impairment
    • Growth delay
    • Speech delay
    • Ataxia
    • Ovarian failure
  • Can lead to brain damage and death.
  • Screened for with Newborn Screening tests, but: [Lavine, 2015; Burton, 1998]
    • Not everywhere does newborn screening test for galactosemia
    • Test results may not have resulted by the time the child becomes ill

 

Galactosemia: Presentation

  • Patients with classic galactosemia are at risk for sepsis due to E. coli.

 

Galactosemia: Management

  • Do what you do best — stabilization.
    • Have very low threshold for treating like Sepsis.
    • Start empiric antibiotics that will cover E. coli.
  • When considering undiagnosed galactosemia in the ED, check for urine reducing substances.
    • Symptomatic children will often have >2+ reducing substances.
    • This is not good enough to rule out the illness.
  • Check for and treat hyperbilirubinemia.
  • Need to avoid all galactose.
    • Galactose free diet.
    • Some medications even contain galactose.

 

Moral of the Morsel

  • Don’t forget about genetics and biochemistry! (ok, you don’t have to remember all of the details… but know it is important!)
  • The Newborn Screen won’t save you. Patients may present before the results of the screen are known.
  • Consider Galactosemia in the ill-appearing neonate, especially less than 2 weeks of age.

 

References

Lavin LR1, Higby N, Abramo T. Newborn Screening: What Does the Emergency Physician Need to Know? Pediatr Emerg Care. 2015 Sep;31(9):661-7; quiz 667-9. PMID: 26335232. [PubMed] [Read by QxMD]

Berry GT1. Galactosemia: when is it a newborn screening emergency? Mol Genet Metab. 2012 May;106(1):7-11. PMID: 22483615. [PubMed] [Read by QxMD]

Burton BK1. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics. 1998 Dec;102(6):E69. PMID: 9832597. [PubMed] [Read by QxMD]

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Nasal Fractures

Pediatric Nasal FractureWe can all agree that the nose is a very useful part of the body. It allows us to stop and smell the flowers. It offers us an amazing way to administer medications (ex, intranasal fentanyl). For some, it is a storage container, which can be problematic (ex, button batteries and other nasal FBs). Unfortunately, it is often the first thing to impact the ground, a fist, or projectiles. With this in mind, let us take a moment to review pediatric Nasal Fractures:

 

Nasal Fractures: Basics

  • One of the most commonly encountered facial fractures. [Hoffman, 2015; Desrosiers, 2011; Wright, 2011]
  • May be unilateral and simple or comminuted, dislocated, and complex. [Hoffman, 2015]
    • Low-energy impacts may lead to isolated, unilateral fractures with mild displacement.
    • High-energy impacts may lead to comminuted, bilateral fractures.
      • A displaced nasal dorsum is suggestive of a nasal septal dislocation/fracture.

 

Nasal Fractures: Pediatric Differences

  • Pediatric anatomy is different than adults! [Hoffman, 2015]
    • Less prominent nasal dorsum
      • More protected by prominent supraorbital rim and forehead
      • Less likely to take the brunt of the impact.
    • More cartilaginous
      • More flexible
      • Less likely to become comminuted.
    • Nasal septum is more at risk of injury
      • More prone to dislocation and/or distortion.
      • Septal hematomas are more common.
    • Heal more quickly
      • Which is good… but needs contemplation with respect to follow-up…
      • Children should follow-up within 7-10 days (adults – 2 weeks).
    • Development influences the midface growth
      • Prior to adolescence, the nasal septum is the growth center for the midface
      • Conservative therapies (ex, closed reduction) are the main treatment option to help minimize risk of altering growth.

 

Nasal Fractures: Evaluation

  • The diagnosis of a nasal fracture is predominantly based on H+P!
  • Imaging is rarely useful!
    • Plain xrays: over-estimate AND under-estimate injury.[Hoffman, 2015]
    • Ultrasound: can help image the nasal bones. [Dogan, 2017]
    • CT Scans: neither necessary nor warranted for the evaluation of nasal fractures [Hoffman, 2015]
      • Surgical indications are based on appearance and functional status of the nose, not imaging results.
      • Medical radiation is not trivial.
  • Other facial fractures may be present concurrently.
    • Raccoon eyes, battle sign, or hemotympanum? – consider basilar skull fracture
    • Midface mobility? – consider LeFort fractures
    • Facial numbness? – consider maxillary or orbital fracture
    • Double vision or change in vision? – consider orbital fracture
    • Dental occlusion? – consider maxillary or mandibular fracture
    • Significant watery rhinorrhea? – consider CSF leak and basilar skull fracture
  • Don’t just feel the outside, look up the nose!
    • Septal hematoma is more likely to occur in children than adults.
      • Septal hematoma must be decompressed and managed expeditiously.
      • Untreated septal hematoma can develop into abscess and can lead to collapse of the cartilage and subsequent deformity.
    • Watery rhinorrhea?
      • CSF vs snot is challenging to discern.
      • The “halo test” (fluid placed on filter paper; halo of CSF around blood) is not reliable enough.
      • The glucose test (CSF having glucose while snot shouldn’t) is also not perfectly reliable.
      • Snot often stops… CSF leak may persist… so re-examination is reasonable.
  • Don’t forget the eyes!
    • Injury to the nose may also impact injury to the eye(s).
    • Check visual acuity and pupillary response and symmetry.
    • Check globe position and movement.

 

Nasal Fracture: Management

  • Treat the pain! These hurt!
  • Not all nasal fractures require specific treatment. [Hoffman, 2015]
    • Treatment is based on appearance and nasal function.
    • This can be difficult to determine immediately after the injury due to swelling, etc.
  • Re-evaluation after swelling improves, but before bones become fused, is an integral aspect of nasal fracture management.
    • Children should be re-assessed within 7-10 days from injury.
    • Adolescents and adults heal more slowly and can be seen in ~14 days.
  • Most children will have closed reduction attempted first, unless other complicating facial fractures are present.

 

Moral of the Morsel

  • Nasal fractures can look awful, but rarely require specific intervention themselves acutely.
  • Look for the septal hematoma! The fractured nasal bones aren’t the acute problem… the hematoma will be though!
  • CT isn’t for nasal fractures. CT those who you are concerned about other facial injuries, not just broken noses.
  • Anticipate the follow-up plan. 7-10 days for kids is what a plastic surgeon is going to recommend.

 

References

Dogan S1, Kalafat UM2, Yüksel B2, Karaboğa T2, Basturk M2, Ocak T2. Use of radiography and ultrasonography for nasal fracture identification in children under 18 years of age presenting to the ED. Am J Emerg Med. 2017 Mar;35(3):465-468. PMID: 28043725. [PubMed] [Read by QxMD]

Hoffmann JF1. An Algorithm for the Initial Management of Nasal Trauma. Facial Plast Surg. 2015 Jun;31(3):183-93. PMID: 26126215. [PubMed] [Read by QxMD]

Allred LJ1, Crantford JC, Reynolds MF, David LR. Analysis of Pediatric Maxillofacial Fractures Requiring Operative Treatment: Characteristics, Management, and Outcomes. J Craniofac Surg. 2015 Nov;26(8):2368-74. PMID: 26517461. [PubMed] [Read by QxMD]

Desrosiers AE 3rd1, Thaller SR. Pediatric nasal fractures: evaluation and management. J Craniofac Surg. 2011 Jul;22(4):1327-9. PMID: 21772190. [PubMed] [Read by QxMD]

Wright RJ1, Murakami CS, Ambro BT. Pediatric nasal injuries and management. Facial Plast Surg. 2011 Oct;27(5):483-90. PMID: 22028012. [PubMed] [Read by QxMD]

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Pediatric Traumatic Glaucoma

Pediatric Traumatic GlaucomaEye complaints are commonly encountered when caring for kids in the ED. Often, they are due to a simple issue, like conjunctivitis (although even “simple” deserves vigilance – Conjunctivitis-Otitis-Syndrome), but there are other times when the “red eye” warrants greater concern. This is particularly true in the setting of trauma. We have considered some eye-related trauma before (ex, Hyphema, Eyelid Lacerations), but now let us look at another potential cause of eye pain after trauma – Traumatic Glaucoma:

 

Pediatric Glaucoma: Basics

  • Worldwide, glaucoma is the 2nd leading cause of vision loss in people of all ages. [Fung, 2013]
  • Glaucoma is rare in childhood, but it is not just an adult condition!
    • Incidence of childhood glaucoma found to be 2.29 per 100,000 people <20 years of age. [Aponte, 2010]
    • Similar to PE, cholelithiasis, and renal stones – not common, but not impossible.
    • Vigilance is required!
  • Glaucoma is characterized by:
    • Increased intraocular pressures
    • Optic disc cupping
    • Progressive visual field loss
  • Early detection is vital to prevent corneal damage, optic nerve damage, and amblyopia (AKA, vision loss). [Fung, 2013]
  • Childhood glaucoma leads to a significant economic burden. [Liu, 2016]

 

Pediatric Glaucoma: Classifications

Pediatric Glaucoma can be classified as Primary or Secondary.

Below is a basic and abridged list to consider: [Fung, 2013; Yeung, 2010]

  • Primary (Developmental):
    • Congenital causes
      • Don’t worry… I won’t torture you with this extensive list!
      • Obviously, patients tend to be younger at presentation (<2 years of age).
    • Associated with systemic disorders- examples:
  • Secondary (Acquired)
    • Trauma
      • In the US, this is the leading cause of 2ndary pediatric glaucoma. [Fung, 2013]
      • Typically older (10-15 years of age) and male (again… boys have issues with a high testosterone to grey matter ratio).
      • Hyphema is a significant risk factor for development of Glaucoma!
      • Penetrating trauma can lead to glaucoma also. [Girkin, 2005]
      • May develop over time… so needs to be monitored for after initial trauma.
    • Post-operative [Sahin, 2013]
    • Intraocular neoplasms
    • Lens related disorders (like dislocation)
    • Uveitis
    • Sturge-Weber syndrome is a notable cause

 

Pediatric Eye Injuries: Prevention

  • Eye injuries are common among our pediatric patients!
  • Sporting activities are often associated with these events. [Haavisto, 2016]
  • Other activities that are associated:
  • Ocular contusion is a leading diagnosis after trauma. [Haavisto, 2016]
    • Often requires prolonged follow-up for glaucoma monitoring.
  • Advocate for protective eyewear whenever possible! [Haavisto, 2016]

 

Moral of the Morsel

  • Kids might be smaller, but they still get big problems. Glaucoma does occur in children.
  • Check that pressure! Trauma is the leading cause of secondary glaucoma. Check that IOP (after your are sure it isn’t an open globe!).
  • Keep an eye out for it even after discharge! Kids with a history of eye trauma deserve close outpatient follow up to ensure glaucoma has not developed.
  • An Ounce of Prevention… is much better than trying to fix a dysfunctional eye! Promote protective eyewear!!

 

References

Liu D1, Huang L, Mukkamala L, Khouri AS. The Economic Burden of Childhood Glaucoma. J Glaucoma. 2016 Oct;25(10):790-797. PMID: 26950576. [PubMed] [Read by QxMD]

Haavisto AK1, Sahraravand A1, Holopainen JM1, Leivo T1. Paediatric eye injuries in Finland – Helsinki eye trauma study. Acta Ophthalmol. 2017 Jun;95(4):392-399. PMID: 27966829. [PubMed] [Read by QxMD]

Ophthalmologe. 2014 Dec;111(12):1204-6. PMID: 24938368. [PubMed] [Read by QxMD]

Keles S1, Ondas O2, Ekinci M3, Sener MT4, Erhan E5, Sirinkan A5, Akyol Salman I1, Kocer I1, Baykal O1. Paintball-related ocular trauma: Paintball or Painball? Med Sci Monit. 2014 Apr 5;20:564-8. PMID: 24704783. [PubMed] [Read by QxMD]

Fung DS1, Roensch MA, Kooner KS, Cavanagh HD, Whitson JT. Epidemiology and characteristics of childhood glaucoma: results from the Dallas Glaucoma Registry. Clin Ophthalmol. 2013;7:1739-46. PMID: 24039394. [PubMed] [Read by QxMD]

Sahin A1, Caça I, Cingü AK, Türkcü FM, Yüksel H, Sahin M, Cinar Y, Ari S. Secondary glaucoma after pediatric cataract surgery. Int J Ophthalmol. 2013 Apr 18;6(2):216-20. PMID: 23638427. [PubMed] [Read by QxMD]

Yeung HH1, Walton DS. Clinical classification of childhood glaucomas. Arch Ophthalmol. 2010 Jun;128(6):680-4. PMID: 20547943. [PubMed] [Read by QxMD]

Aponte EP1, Diehl N, Mohney BG. Incidence and clinical characteristics of childhood glaucoma: a population-based study. Arch Ophthalmol. 2010 Apr;128(4):478-82. PMID: 20385945. [PubMed] [Read by QxMD]

Papadopoulos M1, Cable N, Rahi J, Khaw PT; BIG Eye Study Investigators. The British Infantile and Childhood Glaucoma (BIG) Eye Study. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4100-6. PMID: 17724193. [PubMed] [Read by QxMD]

Klin Monbl Augenheilkd. 2005 Oct;222(10):772-82. PMID: 16240269. [PubMed] [Read by QxMD]

Girkin CA1, McGwin G Jr, Morris R, Kuhn F. Glaucoma following penetrating ocular trauma: a cohort study of the United States Eye Injury Registry. Am J Ophthalmol. 2005 Jan;139(1):100-5. PMID: 15652833. [PubMed] [Read by QxMD]

Cavallerano AA, Alexander LJ. The secondary glaucomas. Optom Clin. 1991;1(1):127-64. PMID: 1686843. [PubMed] [Read by QxMD]

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