Polymicrogyria

Shain C, et al. Polymicrogyria-associated epilepsy: a multicenter phenotypic study from the Epilepsy Phenome/Genome Project. Epilepsia. 2013 Aug;54(8):1368-75.

Polymicrogyria (PMG) is an epileptogenic malformation of cortical development. We describe the clinical epilepsy and imaging features of a large cohort with PMG-related epilepsy.

Participants with PMG had both focal and generalized onset of seizures. Our data confirm the involvement of known topographic patterns of PMG and suggest that more extensive distributions of PMG present with an earlier age of seizure onset and increased prevalence of developmental delay prior to seizure onset.

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Barkovich AJ. Current concepts of polymicrogyria. Neuroradiology. 2010 Jun;52(6):479-87.

Polymicrogyria is one of the most common malformations of cortical development. It has been known for many years and its clinical and MRI manifestations are well described. Recent advances in imaging, however, have revealed that polymicrogyria has many different appearances on MR imaging, suggesting that is may be a more heterogeneous malformation than previously suspected. The clinical and imaging heterogeneity of polymicrogyria is explored in this review.

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Concurrent viral infections and Kawasaki disease

Song E, et al. Clinical and virologic characteristics may aid distinction of acute adenovirus disease from Kawasaki disease with incidental adenovirus detection. J Pediatr. 2016 Mar;170:325-30.

Incidental adenovirus detection in Kawasaki disease (KD) is important to differentiate from acute adenovirus disease. Twenty-four of 25 children with adenovirus disease and mimicking features of KD had <4 KD-like features, predominance of species B or E, and higher viral burden compared with those with KD and incidental adenovirus detection.

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Turnier JL, et al. Concurrent respiratory viruses and Kawasaki disease. Pediatrics. 2015 Sep;136(3):e609-14.

“Overall, our study supports earlier evidence that a large number of patients with KD have respiratory symptoms and evidence of viral nucleic acid in the nasopharynx. This study showed that a large percentage of patients with KD have a concurrent or recent history of respiratory viral infections and suggests that clinicians should not dismiss the diagnosis of KD based on the presence of respiratory or gastrointestinal symptoms or solely on the results of a positive respiratory viral PCR test. Furthermore, our data support the recommendation that a positive respiratory virus test result, regardless of the virus detected, should not be used to exclude the diagnosis of KD.4,16 Continued research is needed to elucidate the etiology and/or discover a more sensitive and specific diagnostic test for this important pediatric disease.”

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Lead poisoning

Dapul H, Laraque D. Lead poisoning in children. Adv Pediatr. 2014 Aug;61(1):313-33.

“The management of patients with lead exposure involves not only the pharmacologic management of toxicity, but also strategies for intervention and prevention of further exposure. Once an elevated lead level is found, the local health department should be notified and a home risk assessment should be performed to determine the need for abatement strategies. With the gradual lowering of the “BLL of concern” by the CDC, the threshold for action has decreased as well. The Pediatric Environmental Health Specialty Unit Network has made recommendations on further evaluation and/or intervention based on the BLL, as outlined in Table 6 [46] .”

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Acute Ataxia

Caffarelli M, Kimia AA, Torres AR. Acute Ataxia in Children: A Review of the Differential Diagnosis and Evaluation in the Emergency Department. Pediatr Neurol. 2016 Dec;65:14-30.

Acute ataxia in a pediatric patient poses a diagnostic dilemma for any physician. While the most common etiologies are benign, occasional individuals require urgent intervention. Children with stroke, toxic ingestion, infection, and neuro-inflammatory disorders frequently exhibit ataxia as an essential-if not the only-presenting feature. The available retrospective research utilize inconsistent definitions of acute ataxia, precluding the ability to pool data from these studies. No prospective data exist that report on patients presenting to the emergency department with ataxia. This review examines the reported causes of ataxia and attempts to group them into distinct categories: post-infectious and inflammatory central and peripheral phenomena, toxic ingestion, neurovascular, infectious and miscellaneous. From there, we synthesize the existing literature to understand which aspects of the history, physical exam, and ancillary testing might aid in narrowing the differential diagnosis. MRI is superior to CT in detecting inflammatory or vascular insults in the posterior fossa, though CT may be necessary in emergent situations. Lumbar puncture may be deferred until after admission in most instances, with suspicion for meningitis being the major exception. There is insufficient evidence to guide laboratory evaluation of serum, testing should be ordered based on clinical judgement-recommended studies include metabolic profiles and screening labs for metabolic disorders (lactate and ammonia). All patients should be reflexively screened for toxic ingestions.

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Thakkar K, Maricich SM, Alper G. Acute Ataxia in Childhood: 11-Year Experience at a Major Pediatric Neurology Referral Center. J Child Neurol. 2016 Aug;31(9):1156-60.

We categorized the causes of acute ataxia in the pediatric population-referred to the Division of Neurology-at a large, urban pediatric medical center. Of the 120 cases identified over the past 11 years, post-infectious cerebellar ataxia was the most commonly diagnosed (59%), followed by drug intoxication, opsoclonus-myoclonus ataxia syndrome, episodic ataxia, acute cerebellitis, cerebellar stroke, ADEM, meningitis, cerebral vein thrombosis, Leigh’s disease, Miller-Fisher syndrome, and concussion. Among the patients with post-infectious cerebellar ataxia, 85% were 1-6 years old and all had a history of antecedent viral illness. CSF pleocytosis was present in 40% of patients; all had normal brain MRIs. The majority (91%) recovered within 30 days. We conclude that post-infectious cerebellar ataxia remains the most common cause of acute ataxia in childhood and that it carries a good prognosis. We also differentiate acute post-infectious cerebellar ataxia from other causes with similar presentations.

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CNS abnormalities with Cornelia de Lange Syndrome

Deardorff MA, Noon SE, Krantz ID. Cornelia de Lange Syndrome. 2005 Sep 16 [Updated 2016 Jan 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.


Roshan Lal TR, et al. Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment. Am J Med Genet C Semin Med Genet. 2016 Jun; 172(2):190-7.

“Neurobehavioral and developmental issues with a broad range of deficits are prominent features of Cornelia de Lange syndrome (CdLS), a disorder due to disruption of the cohesin protein complex. The etiologic relationship of these clinical findings to anatomic abnormalities on neuro-imaging studies has not, however, been established. Anatomic abnormalities in the brain and central nervous system specific to CdLS have been observed, including changes in the white matter, brainstem, and cerebellum. We hypothesize that location and severity of brain abnormalities correlate with clinical phenotype in CdLS, as seen in other developmental disorders.

Ten of fifteen (67%) of CdLS patients had abnormal findings on brain MRI, including cerebral atrophy, white matter changes, cerebellar hypoplasia, and enlarged ventricles. Other findings included pituitary tumors or cysts, Chiari I malformation and gliosis. Abnormal behavioral scores in more than one behavioral area were seen in all but one patient. All 5 of the 15 (33%) patients with normal structural MRI studies had abnormal ABC scores. All normal ABC scores were noted in only one patient and this was correlated with moderately abnormal MRI changes. Although our cohort is small, our results suggest that abnormal behaviors can exist in individuals with CdLS in the setting of relatively normal structural brain findings.”

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Fever of unknown origin (FUO) and fever without a source (FWS)

Definitions:

  • FUO – Children with fever >101ºF (38.3ºC) of at least eight days’ duration, in whom no diagnosis is apparent after initial outpatient or hospital evaluation that includes a careful history and physical examination and initial laboratory assessment.
  • FWS – Children with fever lasting for one week or less without adequate explanation after a careful history and thorough physical examination.

From UpToDate.


Antoon JW, et al. Pediatric fever of unknown origin. Pediatr Rev. 2015 Sep;36(9):380-90; quiz 391.

  • On the basis of strong clinical evidence, the causes of FUO are broad and include both benign and life-threatening medical conditions. (12)
  • On the basis of observational studies, most cases of FUO have shifted to noninfectious etiologies over the past several decades. (10)
  • On the basis of observational studies, completely normal physical examination findings at the time of the initial FUO evaluation suggest a benign underlying cause. (13)
  • On the basis of consensus and expert opinion, a stepwise, tiered approach to FUO should be implemented to decrease cost and time to diagnosis. (13)

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Cunha BA, ET AL. Fever of unknown origin: a clinical approach. Am J Med. 2015 Oct; 128(10):1138.e1-1138.e15.

Fevers of unknown origin remain one of the most difficult diagnostic challenges in medicine. Because fever of unknown origin may be caused by over 200 malignant/neoplastic, infectious, rheumatic/inflammatory, and miscellaneous disorders, clinicians often order non-clue-based imaging and specific testing early in the fever of unknown origin work-up, which may be inefficient/misleading. Unlike most other fever-of-unknown-origin reviews, this article presents a clinical approach. Characteristic history and physical examination findings together with key nonspecific test abnormalities are the basis for a focused clue-directed fever of unknown origin work-up.

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Arora R, Mahajan P. Evaluation of child with fever without source: review of literature and update. Pediatr Clin North Am. 2013 Oct;60(5):1049-62.

“Fever is one of the most common reasons for a visit to the primary care provider or the emergency department. Traditionally, clinicians have used various risk-stratification strategies to identify serious bacterial infections (SBI) without an obvious source in febrile children, because missed bacterial infections in such children can result in meningitis, sepsis, and death; therefore, early and accurate identification of SBIs is critical. Infants aged less than 60 to 90 days are at greatest risk of SBI. The epidemiology of SBI continues to evolve, especially after the successful introduction of conjugate vaccines against Streptococcus pneumoniae and Haemophilus influenzae.”

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Hemolytic uremic syndrome (HUS)

Ardissino G, et al. Early volume expansion and outcomes of hemolytic uremic syndrome. Pediatrics. 2016 Jan;137(1).

Patients with STEC-HUS had great benefit from early volume expansion. It is speculated that early and generous fluid infusions can reduce thrombus formation and ischemic organ damage, thus having positive effects on both short- and long-term disease outcomes.

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Kappler S, et al. Thrombotic microangiopathies (TTP, HUS, HELLP). Emerg Med Clin North Am. 2014 Aug;32(3):649-71.

“Typical HUS is treated with supportive care, which includes blood transfusions when needed, judicious control of hypertension (preferably with nifedipine or nicardipine), careful maintenance of fluids and electrolytes, and hemodialysis when clinically indicated. [32] Dialysis was required in 63% of patients with HUS in one study. [33] In a meta-analysis of treatment modalities for typical HUS, there was no difference in mortality or clinical outcome when supportive care was compared with FFP infusion, anticoagulation medications, steroids, or a Shiga-toxin-binding agent. 9 With no proven benefit and a potential to worsen the disease process, antibiotics, narcotics, and antimotility agents should also be avoided in HUS. [31 36 37] PET therapy lacks compelling support in children with typical HUS and is controversial in adults. [5 30 38 39] Despite the lack of evidence, PET therapy may be considered when severe neurologic abnormalities are present. [13]”

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Altered mental status and delirium in children

Souganidis E, Grala M, Chinsky J. Six-year-old with altered mental status: no “LACk” of clues. Pediatr Emerg Care. 2015 Apr 14. [Epub ahead of print]

“The clinical approach to a child with altered mental status requires both a broad differential diagnosis as well as prompt efforts to resuscitate and stabilize the child. While the diagnostic work-up may require extensive laboratory testing and imaging, there should always be an initial focus on rapidly reversible causes, most notably hypoglycemia in this case. Although the differential diagnosis of hypoglycemia is in itself extensive and largely influenced by the age of the child, the ability to promptly administer glucose, as that was done with our patient, can be life-saving before the etiology of the hypoglycemic episode is identified.”

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Grover S, Kate N, Malhotra S, et al. Symptom profile of delirium in children and adolescent–does it differ from adults and elderly? Gen Hosp Psychiatry. 2012 Nov-Dec;34(6):626-32.

“The commonly observed symptoms in children and adolescents with delirium were disturbance in attention, orientation, sleep-wake cycle disturbances, fluctuation of symptoms, disturbance of short-term memory and motor agitation. The least commonly seen symptoms included delusions and motor retardation. Compared to adults, children and adolescents had lower frequency of long-term memory and visuospatial disturbances. Compared to the elderly, children and adolescents had higher frequency of lability of affect. For severity of symptoms, compared to adults, the children and adolescents had lower severity of sleep-wake disturbances, abnormality of thought, motor agitation, orientation, attention, short-term memory, long-term memory and visuospatial abilities. When compared to elderly patients, children and adolescents had higher severity of lability of affect and lower severity of language disturbances, short-term memory and visuospatial abilities.”

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Neutropenia (Non-chemotherapy-induced)

Lindqvist H, et al. Neutropenia in childhood: a 5-year experience at a tertiary center. Eur J Pediatr. 2015 Jun;174(6):801-7.

Clinical characteristics corroborated by laboratory investigations are essential to determine the etiology in cases of childhood neutropenia and the level of future health-care needs. Here the presentation, findings, and need of interventions in different types of neutropenia in children followed at our center from 2007 to 2012 were investigated retrospectively. Children with congenital and autoimmune neutropenia presented at a significantly younger age and with lower absolute neutrophil granulocyte counts than those with other types of neutropenia (p < 0.01-0.05). The duration of neutropenia, in case of remission, was shorter in post-infection and drug-induced cases compared to autoimmune and chronic idiopathic neutropenias (p = 0.001). Least affected from infections were children with ethnic and post-infection neutropenias compared to the others (p = 0.01-0.05). With the exception of congenital and autoimmune neutropenias, neutropenic children had few clinical infections and few hospital admissions even though the outpatient visit frequency was similar among the groups. A vast majority of the patients received no antibiotic prophylaxis.

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Walkovich K, Boxer LA. How to approach neutropenia in childhood. Pediatr Rev. 2013 Apr;34(4):173-84.

  1. Recognize patients who have concerning features of history, physical examination, or laboratory results that warrant further investigation for possible neutropenia or other immunodeficiency.
  2. Define mild, moderate, and severe neutropenia.
  3. Understand that neutropenia can arise from acquired or intrinsic conditions. Know which causes of neutropenia are most commonly encountered in childhood.

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Iron-deficiency anemia and Helicobacter pylori infections

Roma E, Miele E. Helicobacter pylori infection in pediatrics. Helicobacter. 2015 Sep;20 Suppl 1:47-53.

This review includes the main pediatric studies published from April 2014 to March 2015. The host response of Treg cells with increases in FOXP3 and TGF-β1 combined with a reduction in IFN-γ by Teff cells may contribute to Helicobacter pylori susceptibility in children. Genotypic variability in H. pylori strains influences the clinical manifestation of the infection. Helicobacter pylori infection is associated with variables indicative of a crowded environment and poor living conditions, while breast-feeding has a protective effect. Intrafamilial infection, especially from mother to children and from sibling to sibling, is the dominant transmission route. Studies showed conflicting results regarding the association between H. pylori infection and iron deficiency anemia. One study suggests that H. pylori eradication plays a role in the management of chronic immune thrombocytopenic purpura in H. pylori-infected children and adolescents. The prevalence of H. pylori was higher in chronic urticaria patients than in controls and, following H. pylori eradication, urticarial symptoms disappeared. An inverse relationship between H. pylori infection and allergic disease was reported. Antibiotic resistance and insufficient compliance to treatment limit the efficacy of eradication therapy.

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Queiroz DM, et al. Iron status and Helicobacter pylori infection in symptomatic children: an international multi-centered study. PLoS One. 2013 Jul 4;8(7):e68833.

“Conversely, in the United Kingdom cohort, the very low prevalence of H. pylori infection in an ethnically diverse group of children might explain the absence of association between the infection and iron deficiency/IDA parameters. A decreased prevalence of H. pylori infection associated with different generations of immigrants from developing to developed countries was similarly described by Tsai et al. [29] with Hispanics in the USA, likely reflecting a better standard of socioeconomic conditions. Thus, geographical variability among iron stores of the children may also explain the differences between the Latin American and UK cohorts we observed. Due to inadequate diet, children from developing countries could have a small iron reserve that contributes to the development of iron deficiency and IDA in the course of H. pylori infection.”

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