What is Panayiotopoulos Syndrome?

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Recently, Panayiotopoulos syndrome was mentioned on the GI Listserv as a possible explanation for a child with seizures following vomiting and gagging.  I hope that I was not the only one to wonder what that was.

According to Pediatrics Review Article:

Panayiotopoulos syndrome is a common idiopathic childhood-specific seizure disorder formally recognized by the International League Against Epilepsy. An expert consensus has defined Panayiotopoulos syndrome as “a benign age-related focal seizure disorder occurring in early and mid-childhood. It is characterized by seizures, often prolonged, with predominantly autonomic symptoms, and by an EEG [electroencephalogram] that shows shifting and/or multiple foci, often with occipital predominance.”

Autonomic epileptic seizures and autonomic status epilepticus are the cardinal manifestations of Panayiotopoulos syndrome. Autonomic seizures in Panayiotopoulos syndrome consist of episodes of disturbed autonomic function with emesis as the predominant symptom. Other autonomic manifestations include pallor (or, less often, flushing or cyanosis), mydriasis (or, less often, miosis), cardiorespiratory and thermoregulatory alterations, incontinence of urine and/or feces, hypersalivation, and modifications of intestinal motility.

Bottomline: If a parent is convinced that vomiting or retching is triggering seizures, the child’s neurologist needs to consider this disorder.

Magnetic Resonance Elastography in Nonalcoholic Fatty Liver Disease

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A recent study (Hepatolology 2014; 60: 1920-8) shows that magnetic resonance (MR) elastography can be an accurate noninvasive tool to assess liver fibrosis.

Background: Assessing severity of liver fibrosis provides important prognostic information in patients with nonalcoholic fatty liver disease (NAFLD); however, these patients are often obese which decreases the success of transient elastography.  In addition, high hepatic fat content may alter the results of transient elastography.  Hence, an alternative noninvasive technique is desirable.

Design: Prospective study with 117 consecutive patients with biopsy-proven NAFLD who also underwent 2D-MR elastography between 2011-2013.

Results:

  • Fibrosis stage: stage 0 n=43, stage 1 n=39, stage 2 n=13, stage 3 n=12, stage 4 n=10.
  • MR elastography identified stage 3-4 with an accuracy of 0.92, with little overlap between advanced (F3-4) and non-advanced (F0-2) values.  The specificity, sensitivity, positive/negative predictive values, and cutoff values are detailed in Table 2.
  • Figure 3 provides a cool picture demonstrating the different MR elastography stiffness heat maps correlated with liver fibrosis. Link to similar web-based image from Siemens.

Bottomline: This technology allows a noninvasive measure of liver fibrosis in NAFLD patients and will probably be of use in other liver conditions.  Given the fact that a liver biopsy is more risky and often expensive, this technology and other noninvasive markers of advanced liver disease will be important tools.

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Lack of Meaningful Improvement in Crohn’s Patients with Tofacitinib

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As noted in a previous blog (see below for link), tofacitinib, an oral Janus Kinase Inhibitor has shown promise as an agent for ulcerative colitis. However, its results thus far for Crohn’s disease (CD) have been discouraging.  Another study (Clin Gastroenterol Hepatol 2014; 12: 1485-93) reiterates that message.

In brief, 139 patients with moderate-to-severe active CD were randomly assigned to 3 dosage groups of tofacitinib (1-, 5-, and 15-mg) and compared with placebo.  There were no significant differences in response or remission between tofacitinib and the placebo group, though there were reductions in both C-reactive protein and fecal calprotectin among patients given the 15-mg dose.

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Do Oral Nutrition Supplements Help Hospitalized Patients?

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A recent retrospective study suggests that oral nutrition supplements may shorten hospital stays and lower costs when matched against similar patients.

Here’s a link to the abstract: JPEN Oral Nutrition Supplement Study

Some of the details:

  • Retrospective analysis of 557,348 hospitalizations of children aged 2–8 years in the Premier Research Database
  • ONS were prescribed in 6066 of 557,348 inpatient episodes (1.09%).
  • ONS use was associated with a 2.9-day increase (95% confidence interval [CI], 2.32–3.39), or 51.6% increase in LOS, from 5.5 to 8.4 days. ONS use was also associated with increased episode cost of $8568
  • Using a matched sample of 11,031 episodes, hospitalizations with ONS use had 14.8% shorter LOS (6.4 vs 7.5 days). Hospitalizations with ONS use had 9.7% lower cost ($16,552 vs $18,320)

Bottomline: Despite the large numbers of patients, the retrospective nature of the study makes it difficult to determine whether these supplements are effective.  Only a randomized study can answer this blog’s title question.

What is the Role of Ursodeoxycholic Acid in Primary Sclerosing Cholangitis?

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While previous studies of ursodeoxycholic acid (UDCA) at high doses (28-30 mg/kg/day) have been shown to have detrimental effects, a number of randomized controlled trials (RCTs) have shown that low-dose UDCA has been associated with biochemical improvements but no differences in endpoints like death, liver transplantation or cholangiocarcinoma.  Given this conflicting information, a new study (Hepatology 2014; 60: 931-40, editorial 785-88) has examined the effects of withdrawal of low-dose UDCA.

In this cohort, the median age was 34 years, “62% were male, 69% had IBD, 19% had cirrhosis, and the baseline UDCA dose was 10-15 mg/kg/day.”

Key findings:

  • “At 3 months, discontinuation of UDCA in patients with PSC causes significant deterioration in liver biochemistry and influences concentrations of bile acid metabolites.”
  • Alkaline phosphatase increased 75.6%, GGT increased 117.9%, bilirubin increased by 50%, aspartate aminotransferase increased by 45.0%, and alanine amiontransferase increased by 63.9%
  • The Mayo Risk Score for PSC (associated with PSC prognosis) also increased 0.5 points from baseline.

Conclusion (from editorial): “there may still be a role for judicious use of UDCA in patients with well-compensated disease.”  A suggested “yet unproven” algorithm for use of UDCA is noted in Figure 1 pg 787 and considers UDCA for patients with alkaline phosphatase >1.5x ULN and/or PSC-associated symptoms like pruritus.  If no clinical improvement within 6 months, then stopping UDCA is recommended.

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Liver Disease Associated with Inflammatory Bowel Disease

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A useful review on the hepatobiliary manifestations of inflammatory bowel disease (IBD): Inflamm Bowel Dis 2014; 1655-67.

A few topics/comments from review:

Primary sclerosing cholangitis (PSC):

  • “among those with PSC, about 70% to 80% have UC and 15% to 20% have CD.  Those IBD patients with PSC are more likely to develop malignant complications and to require liver transplantation. Conversely, only about 0.4% to 7.5% of patients with IBD will develop PSC.”
  • “Currently, no medical treatment has been proven to decrease the progression of PSC.”
  • “At the time of diagnosis of PSC, IBD must be ruled out and a complete colonoscopy with multiple segmental biopsies of the mucosa needs to be performed.”  Among PSC-IBD patients, “annual surveillance colonoscopy is recommended.”
  • Further surveillance recommendations (eg. annual imaging/CA 19-9 annually) discussed in Table 2.

Cholelithiasis: Gallstones are reported in 13% to 24% of all patients with CD.  In UC, the risk of cholelithiasis “does not seem to be increased.”

Drug-induced liver disease: (see liver tox website)

  • Thiopurines
  • Methotrexate
  • Sulfasalazine/mesalamine
  • Biologic agents

Viral hepatitis in immunosuppressed IBD patients:

Hepatitis B reactivation -algorithm for screening/management of latent hepatitis B provided in Figure 3

Other liver problems seen in IBD patients:

  • Portal Vein Thrombosis
  • Nonalcoholic Fatty Liver Disease
  • Secondary amyloidosis
  • Hepatic abscess

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Work on Both Ends

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Two articles provide some insight into endoscopic interventions on both ends of the gastrointestinal tract.

In the first article (JPGN 2014; 59: 608-11), the authors retrospectively studied 11 children who received mitomycin-C concurrently with endoscopic dilatation for the treatment of anastomotic strictures after esophageal atresia repair.  Key finding: 8 of 11 achieved resolution of their strictures, 2 remained with stenosis, and 1 needed surgical correction. However, the authors found no benefit of mitomycin C in the resolution of the strictures compared with endoscopic dilatation alone in historical controls (n=10). In fact, in this small study, the control group patients had fewer endoscopic dilatations (3.7 vs. 5.4 dilatations per patient) and 9 of 10 achieved stricture resolution.

In the second article (JPGN 2014; 59: 604-08), the authors retrospectively reviewed the outcome of children (n=33) with surgically-treated Hirschsprung’s disease (HD) who were treated with intrasphincteric Botox injections for obstructive symptoms. In these children with median age of first Botox injection was 3.6 years; a median of 2 injections were given.  26 (79%) had had a transanal endorectal pull-through.  Key finding: initial improvement was noted in 76% and “good/excellent” long-term response was evident in 52% (Table 2).

Bottomline: Botox therapy appears helpful for non-relaxing sphincters in HD whereas mitomycin-C remains an unproven therapy for esophageal strictures.

Also briefly noted: JPGN 2014; 59: 674-78.  “Use of cyproheptadine in young children with feeding difficulties and poor growth in a pediatric feeding program.” n=127.  Of the 82 who took cyproheptadine regularly, 96% reported a positive change in feeding behaviors and there was a significant improvement in weight gain.

Also, with regard to stooling problems, Sana Syed (Emory GI fellow) pointed out a useful website that emphasizes proper positioning for functional constipation: squattypotty.com.  While the website promotes their product to provide proper foot support (with elevation), there are other ways to get a similar result.  As noted previously (“Poo in You” Video | gutsandgrowth) proper positioning can help a lot.

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Rough Skin -Tough Case

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Briefly noted:

“D is Delay” NEJM 2014; 371: 2218-23.  This case presentation described how a 47-year-old homeless man presented with a neuropathy and over the course of FIVE YEARS developed dermatitis, diarrhea, and dementia.  Ultimately, he was diagnosed with niacin deficiency or pellagra. It is almost painful reading the case report knowing how long it took to establish the diagnosis. Take home points from this case report:

  • Pellagra is derived from the Italian pelle agra which means “rough skin”
  • Nutritional deficiencies are difficult to diagnose in this country due to their rarity/lack of pattern recognition

Family Feud with Allergies and Celiac Disease

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A recent article in Allergic Living highlights the common phenomenon of other family members not believing or not willing to make changes in the face of food allergies and celiac disease.

Here’s an excerpt:

Every day, adults and kids are diagnosed with food allergies or celiac disease, and they naturally expect that the people closest to them will take the most care – as they would with any serious health condition. After all, you should be able to trust your mom to keep gluten out of her gravy, and assume that, when your brother babysits your peanut-allergic daughter, he carefully reads the ingredients on that chocolate bar, right?

For too many living with food allergies and celiac disease, sadly the answer is no. In the fall of 2010, Allergic Living sent out a request for anecdotes of family experiences (both good and bad), and within days we were inundated with responses…

In the end, there is no magic cure that will work for every family because complex problems cannot be solved with simple solutions – and, as they say, you don’t choose your family. But clear and calm communication is vital, as is the ability for those living with allergies to put themselves in their relatives’ shoes.

Related blog post:

Save a life with free allergy education | gutsandgrowth

Update on Enteral Nutrition in Pediatric Intestinal Failure

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It is always nice to see how other centers manage clinical problems.  In a recent review (J Pediatr 2014; 165: 1065-90) from Boston Children’s, the authors provide details on how they use enteral nutrition in pediatric intestinal failure (IF) patients.  Prior to reviewing their approach, the authors provide a few definitions:

  • “IF occurs when there is a reduction of functional intestinal mass necessary for adequate digestion and absorption for nutrient, fluid, and growth requirements, resulting in the need for intensive nutritional support.”
  • “IF resulting from extensive intestinal resection is termed SBS” (short bowel syndrome)

The authors also discuss intestinal adaptation and factors that predispose to improvement.  Enteral nutrition (EN) stimulates adaptation and ‘gut rest’ results in atrophy of intestinal mucosa.

Key points:

  • “Prompt initiation of enteral feeding after bowel resection has been shown to decrease the duration of hospitalization”
  • “The optimal choice for EN in infants with IF seems to be human milk…If human milk is unavailable, amino acid-based formulas have been associated with improved outcomes.”
  • If intact colon with ileocecal valve, supplementation with dietary fiber (e.g.. green beans) at 2 g/kg/d may be helpful.
  • In this population, there is a high prevalence of micronutrient deficiencies while on partial PN support, TPN (depending on availability of components), and when on exclusive enteral feedings.
  • “We commonly employ an approach that uses … continuous feeding at night and bolus feeding during the day.
  • Outcomes of IF are reviewed (noted in previous blog entry –see below). Citrulline can be useful predictor of enteral autonomy.

Feeding Advancement Principles -Figure 1:

When feeds are held, usually held for 8 hours and then restarted at 75% of previous rate

Stool output:

  • If <10 mL/kg/d or < 10 stools/d —->advance rate by 10-20 mL/kg/d
  • If 10-20 mL/kg/d or 10-12 stools/d —>no change
  • If >20 mL/kg/d or >12 stools/d  —->reduce or hold feeds

Ostomy output:

  • If 2 mL/kg/h —> advance rate by 10-20 mL/kg/d
  • If 2-3 mL/kg/h –>no change
  • If >3 mL/kg/h  –>reduce or hold feeds

Also suggested to reduce or holding feeds when/if:

  • signs of dehydration
  • stool reducing substances >1%
  • gastric aspirates > four times previous hour’s infusion rate

Oral feeds:

  • When developmentally appropriate, offer one hour’s worth of continuous feeds BID-TID after 5 days of continuous feeds.  Hold tube feeds during oral feeds.
  • More than an hour’s worth of oral feeds once infant has reached full volume of feeds by continuous route and gaining weight.

Take-home message: Outcomes of IF have improved.  This review provides one approach towards optimizing enteral nutrition.

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