Snake bite complications (with focus on compartment syndrome)

Schulte J, et al. Childhood Victims of Snakebites: 2000-2013. Pediatrics. 2016 Nov; 138(5). pii: e20160491.

The last comprehensive assessment of epidemiology of snakebites among children and adolescents of which we are aware was published in 1965 when inpatient hospital records in 10 states were reported.1 The present study provides data from 50 states, Puerto Rico, and Washington, DC, and finds both similarities and differences. Copperheads and rattlesnakes remain the most common domestic venomous snakes reported; most snakebites are reported during summer months; and few deaths occurred. More than 1100 children and adolescents are bitten each year, and ∼20% of victims require ICU admission. Almost 50% of the reported snakebites were venomous, but 84% of all domestic snakebites could have been potentially treated with antivenom therapy.

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Hsu CP, et al. Predictors of the development of post-snakebite compartment syndrome. Scand J Trauma Resusc Emerg Med. 2015 Nov 11;23:97.

PSCS is a critical problem that requires multiple surgical interventions. Elevated WBC and AST upon ED arrival are highly likely to be risk factors for the development of PSCS and may be useful as clinical markers. Thus, patients with snakebites and locoregional symptoms with elevated markers should be observed for 48 h to exclude the possibility of PSCS. In the future, there may be an opportunity to develop a decision tool that combines observations of clinical symptoms and measurement of WBC and AST levels. Such a tool may be a reasonable and safe way to distinguish patients who can be discharged without needing the 48-h observation period from those who may require surgery.

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Spontaneous pneumomediastinum

Gasser CR, et al. Pediatric Spontaneous Pneumomediastinum: Narrative Literature Review. Pediatr Emerg Care. 2016 Feb 6. [Epub ahead of print]

Spontaneous pneumomediastinum is uncommon in children but must be considered in pediatric patients with acute chest and/or neck pain. History taking, physical examination, and standard chest x-ray are most often diagnostic, and there is rarely a need for other investigation.Hospitalization is not always indispensable; ambulatory management can be considered. Outcome is good, and follow-up can be clinical, therefore avoiding further x-rays.

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Abbas PI, et al. Spontaneous pneumomediastinum in the pediatric patient. Am J Surg. 2015 Dec;210(6):1031-5; discussion 1035-6.

“This is the largest series of pediatric SPM patients to date. Our study reveals potentially no added benefit from obtaining additional imaging with chest CT or esophagographies. This suggests that patients with SPM may be managed primarily with CXRs with additional imaging obtained only when clinically indicated. In addition, we noted that patients with secondary SPM were frequently admitted to treat their underlying disease, whereas those with primary SPM were often observed and discharged home without any interventions or adverse outcomes. Because of this, we suggest that patients with primary SPM may be managed conservatively in the ED and discharged with appropriate follow-up, if they do not have respiratory concerns. These management strategies for pediatric SPM may help to decrease unnecessary hospital admissions and eliminate additional costly imaging.”

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

Karall D, et al. Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD). Orphanet J Rare Dis. 2015 Feb 22;10:21.

LCHADD is a long-fatty acid oxidation disorder with immediate symptoms and long-term complications. We evaluated data on clinical status, biochemical parameters, therapeutic regimens and outcome of Austrian LCHADD patients.

Clinical and outcome data including history, diagnosis, short- and long-term manifestations, growth, psychomotor development, hospitalizations, therapy of 14 Austrian patients with LCHADD were evaluated. Biochemically, we evaluated creatine kinase (CK) and acyl carnitine profiles.

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OMIM entry on LCHADD.


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Acetaminophen poisoning

Argentieri J, Morrone K, Pollack Y. Acetaminophen and ibuprofen overdosage. Pediatr Rev. 2012 Apr;33(4):188-9.

“Clinical manifestations of acetaminophen overdose can be gradual and nonspecific. Four clinical stages of acetaminophen toxicity have been described. The first stage occurs during the initial 12 to 24 hours after ingestion, during which time the patient may experience anorexia, malaise, diaphoresis, nausea, and vomiting. The second stage, or latent phase, begins during the subsequent 12 to 24 hours. During this phase, the clinical presentation may vary and include elevation of liver enzyme levels, liver enlargement, or right upper quadrant abdominal pain. Patients also may be asymptomatic. The third stage occurs 3 to 5 days after ingestion and is characterized by recurrence of anorexia, nausea, vomiting, and malaise. Liver enzyme levels may worsen and be accompanied by signs of liver failure, including jaundice, hypoglycemia, coagulopathy, andencephalopathy. The fourth stage is associated with either complete recovery or progression to liver failure.”

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Migraine with aura, oral contraceptives, and risk of ischemic stroke

Sacco S, Ricci S, Degan D, Carolei A. Migraine in women: the role of hormones
and their impact on vascular diseases. J Headache Pain. 2012 Apr;13(3):177-89.

Migraine is a predominantly female disorder. Menarche, menstruation, pregnancy, and menopause, and also the use of hormonal contraceptives and hormone replacement treatment may influence migraine occurrence. Migraine usually starts after menarche, occurs more frequently in the days just before or during menstruation, and ameliorates during pregnancy and menopause. Those variations are mediated by fluctuation of estrogen levels through their influence on cellular excitability or cerebral vasculature. Moreover, administration of exogenous hormones may cause worsening of migraine as may expose migrainous women to an increased risk of vascular disease. In fact, migraine with aura represents a risk factor for stroke, cardiac disease, and vascular mortality. Studies have shown that administration of combined oral contraceptives to migraineurs may further increase the risk for ischemic stroke. Consequently, in women suffering from migraine with aura caution should be deserved when prescribing combined oral contraceptives.

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Perinatally HIV-infected adolescents

Agwu AL, Fairlie L. Antiretroviral treatment, management challenges and outcomes in perinatally HIV-infected adolescents. J Int AIDS Soc. 2013 Jun 18;16:18579.

Three decades into the HIV/AIDS epidemic there is a growing cohort of perinatally HIV-infected adolescents globally. Their survival into adolescence and beyond represent one of the major successes in the battle against the disease that has claimed the lives of millions of children. This population is diverse and there are unique issues related to antiretroviral treatment and management. Drawing from the literature and experience, this paper discusses several broad areas related to antiretroviral management, including: 1) diverse presentation of HIV, (2) use of combination antiretroviral therapy including in the setting of co-morbidities and rapid growth and development, (3) challenges of cART, including nonadherence, resistance, and management of the highly treatment-experienced adolescent patient, (4) additional unique concerns and management issues related to PHIV-infected adolescents, including the consequences of longterm inflammation, risk of transmission, and transitions to adult care. In each section, the experience in both resource-rich and limited settings are discussed with the aim of highlighting the differences and importantly the similarities, to share lessons learnt and provide insight into the multi-faceted approaches that may be needed to address the challenges faced by this unique and resilient population.

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Congenital central hypoventilation syndrome (CCHS)

OMIM entry on CCHS.


Weese-Mayer DE, et al. Congenital Central Hypoventilation Syndrome. [updated 2014 Jan 30]. In: Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.

CCHS is diagnosed in individuals with the following:

  • Hypoventilation with absent or attenuated ventilatory response to hypercarbia and/or hypoxemia
  • Generally adequate ventilation while awake and at rest and apparent hypoventilation with monotonous respiratory rate and shallow breathing (diminished tidal volume) during sleep OR apparent hypoventilation while both awake and asleep
  • Absent perception of asphyxia (i.e., absent behavioral awareness of hypercarbia and/or hypoxemia) and absent arousal from sleep with development of physiologic compromise secondary to hypercarbia and/or hypoxemia
  • No evidence of primary neuromuscular, lung, or cardiac disease or identifiable brain stem lesion that could account for the full constellation of signs and symptoms including autonomic nervous system dysregulation (ANSD)
  • Presence of a CCHS-related PHOX2B mutation
  • Symptoms of ANSD including but not limited to severe breath-holding spells; lack of physiologic responsiveness to the challenges of exercise and environmental stressors; diminished pupillary light response; esophageal dysmotility; severe constipation even in the absence of Hirschsprung disease; profuse sweating; reduced basal body temperature; and altered perception of anxiety

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Retinoblastoma

Ortiz MV, Dunkel IJ. Retinoblastoma. J Child Neurol. 2015 May 28. [Epub ahead of print]

Retinoblastoma is the most common primary intraocular malignancy of childhood. It typically presents with leukocoria or strabismus. In later stages of the disease, the child may exhibit proptosis, buphthalmos, or hypopyon. The pathognomonic molecular aberration is a loss of function mutation in the RB1 gene on chromosome 13q. The degree of tumor involvement within the eye is defined by its group. Grouping was historically done with Reese-Ellsworth System. Recent therapeutic advances have led to the development of a new grouping system, the International Classification of Retinoblastoma (ICRB). In cases of extraocular extension and metastatic disease, the degree of tumor involvement outside of the eye is defined by its stage. Retinoblastoma is staged using the International Retinoblastoma Staging System (IRSS). Children with intraocular retinoblastoma have an excellent overall and ocular survival. In order to avoid the morbidity of enucleation and external beam radiation, treatments for isolated intraocular retinoblastoma have progressively moved toward targeted local modalities. Patients with extraocular involvement, such as those with trilateral retinoblastoma, have a poorer prognosis. The majority of these higher stage patients are now able to be cured with combination chemotherapy.

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Pitt-Hopkins Syndrome

GeneReviews entry on Pitt-Hopkins Syndrome.

Peippo M, Ignatius J. Pitt-Hopkins Syndrome. Mol Syndromol. 2012 Apr;2(3-5):171-180.

“The natural history of PTHS and morbidity in adult age remains to be investigated; the life expectancy is unknown. One of the 2 patients described by Pitt and Hopkins [1978] died of pneumonia at the age of 19 and one patient was diagnosed with Hodgkin lymphoma at the age of 29 years [Zweier et al., 2007]. The oldest living patient published in the literature is 29 years old [de Pontual et al., 2009].”

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Van Balkom ID, Vuijk PJ, Franssens M, Hoek HW, Hennekam RC. Development,
cognition, and behaviour in Pitt-Hopkins syndrome. Dev Med Child Neurol. 2012 Oct; 54(10):925-31.

“Patients with PTHS are characterized not only by specific physical and genetic manifestations but also by specific behavioural and cognitive characteristics. Studying behaviour and cognition may improve diagnosis and prognosis, allows recognition of comorbidities, and contributes to adequate counselling of families.”

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