Showing posts with label case report. Show all posts
Showing posts with label case report. Show all posts

Thursday, July 31, 2014

Outcomes in Multifocal Neuroblastoma as Part of the Neurocristopathy Syndrome

Our Case Report Editor, Dr. Jeffery Malatack shares a case report we early released this month from our upcoming August issue.

By: Jeffrey Malatack, MD

Neuroblastoma rosettes
Photo by Maria Tsokos, US National Cancer Institute
Neuroblastoma has been appreciated for many years to have patient outcomes related to a variety of unique tumor features, including presence of stage 4S subtype, presence of opsoclonus/myoclonus and association with ROHHAD syndrome (Rapid onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation).

In each of these settings the prognosis of the malignancy is improved by what is believed to be an antitumor immune response. Neuroblastoma occurring as part of neurocristopathy syndrome has not previously been considered another special setting with an improved outcome. The neurocristopathy syndrome occurs due to a germline mutation of a neurogenesis regulator gene. The result is abnormal neural crest cell development resulting in congenital central hypoventilation syndrome, Hirschprung’s disease, and neuroblastoma which is often multifocal and disseminated in its presentation. Such widespread neuroblastoma has been considered highly aggressive and treated with either palliative intent or with very intense high dose chemotherapy.

Dr. Williams and colleagues (doi:10.1542/peds.2013-3340) writing from Australia report a patient with neurocristopathy syndrome who had multifocal neuroblastoma associated with the underlying germline mutation. The reported patient was treated conservatively with surgery and low dose chemotherapy. Following treatment he had extensive residual disease that has continued to mature from malignant to nonmalignant neural tumor despite no further treatment.

A literature review also provided in Dr. Williams’ report identified 26 similar patients presenting with multifocal neuroblastoma as part of the neurocristopathy syndrome. In all cases the neuroblastoma behaved in an indolent manner with no deaths from tumor reported where patients received appropriate treatment. These provocative findings suggest neurocristopathy-associated neuroblastoma should be treated conservatively, despite the aggressive appearance of the disease.

Related Reading:

Tuesday, April 1, 2014

Case Report: Buccal Cell Chimerism in a Monochorionic Dizygotic Twin

Our Case Report Editor, Dr. Jeffery Malatack shares a case report we early released this month from our upcoming April issue:

Public Domain Photo
A case report has the capacity to bring to attention an observation that challenges the existing understanding of nature even when the implications of this paradigm alteration aren’t known.

Such is the case with the report by Fumoto and colleagues at the Kyorin University School of
Medicine’s HLA laboratory in Kyoto, Japan (doi: 10.1542/peds.2013-1938). Not until recently has the existence of monochorionic dizygotic twins (MCDZT) been known.

Prior to work by Souter et al. in 2003, monochorionic twins were believed to all be monozygous. Subsequent to Souter’s publication, MCDZT were recognized to be not extremely rare particularly in pregnancies by in vitro fertilization. Once such twins were recognized blood chimerism between such twins was noted to occur fairly often. Blood derived from one zygote was found in the blood stream of the twin derived from the other zygote and vice versa.

This finding, it is assumed, occurs when placental vessels cross during in-utero development mixing one twins blood elements with the others. Until Fumoto’s report, only blood elements were known to be chimeric in MCDZT and only on occasion. Fumoto upsets that notion by finding chimeric buccal cells in each of a twin set. The authors speculate on the mechanism of this finding and possible implications of its occurrence in the report.

It appears that the more deeply we look into biology, the more we find exceptions that no doubt are new harbingers of deeper understanding of nature’s overall plan.

Friday, February 28, 2014

Case Report: Posterior Reversible Cerebral Edema Syndrome

Our Case Report Editor, Dr. Jeffery Malatack shares a case report we early released this month from our upcoming March issue:

Posterior reversible cerebral edema syndrome, often referred to as posterior reversible encephalopathy syndrome (PRES), has been recognized more and more frequently since its original description by Hinchey in 1996 as a complication of systemic hypertension.

MRI image of PRES patient by Stevenfruitsmaak
via Wikimedia Commons
PRES is a potentially reversible clinico-radiological entity characterized by the insidious onset of headache, confusion, visual disturbances and seizures associated with brain edema, which predominates in the posterior cerebral areas and in the white matter on imaging. Some believe loss of autonomic control of the posterior cerebral circulation is at the basis of the clinical presentation. Many varied medical conditions as well as multiple drugs have now been associated causally with its presentation. Common to all of these conditions and drugs is the development of significant systemic hypertension.

Dr. Milani and colleagues writing out of Milan, Italy (doi: 10.1542/peds.2013-1301), report yet another drug implicated as potentially causative. Risperidone, a second generation antipsychotic agent, caused PRES in a thin 12-year-old female who did not suffer from pre-treatment hypertension but developed hypertension once the drug was used and resolved when the drug was discontinued. A validated drug reaction scale suggested that the relationship between risperidone and PRES was in the probable range.

Mindful of the increasing use of risperidone outside of the setting of psychosis for all manner of behavioral problems in children as well as adults, Milani brings to our attention an important observation—an observation pediatricians should file away in the back of their minds (as long as they doesn’t suffer from PRES) as they go about a busy practice day.

Wednesday, November 20, 2013

Case Report: Two Tetanus Cases in Home-Schooled Children in Oklahoma

Our Case Report Editor, Dr. Jeffery Malatack shares a case report we early released this month from our upcoming December issue:

One unintended outcome to emerge from Horace Mann’s foresight in the creation of Massachusetts universal public education system in 1837 has been a high rate of childhood immunization.  State based school entry and most privately base school entry requires evidence of vaccination against vaccine preventable disease (VPD). A recent trend in childhood education has seen a dramatic rise in home-based education, which in many states effectively thwarts the usual oversight for immunization that public school entry provides.

Johnson et al. (doi:10.1542/peds.2013-1636) of the CDC as well as colleagues at the Oklahoma Department of Health write in the December issue of Pediatrics Case Report section about two home-schooled children who developed tetanus after incurring wounds caused by dirty objects. These children had not had completion of their primary immunization sequence. Johnson et al. also reference other outbreaks of VPD that have occurred in the home-school population who were not immunized. The authors make a plea for new more effective ways to oversee immunization status in the growing number of home-schooled children.

Friday, October 11, 2013

Case Report: Ankyloglossia

Our Case Report Editor, Dr. Jeffery Malatack shares a case report we early released this month from our upcoming November issue:

Ankyloglossia (tongue-tie) was viewed as a normal human variation, a dimple, without physiological consequences not so very long ago. Teaching then was that surgically untethering the affected tongue was a barbaric act of no proven value. Reports from a variety of sources over the last few decades have slowly chiseled away at that construct. True ankyloglossia (not just the presence of a prominent frenulum) does appear to affect the breastfeeding infant, acting as an obstacle to taking adequate breast milk, which can lead to reduced maternal milk production leading in turn to a spiraling descent ending with discontinuation of breast feeding at an early age.

From the University of Western Australia comes a report from Garbin et al. (doi: 10.1542/peds.2012-2651) in which dramatic increases in breast milk consumption, based on pre-breast feeding and post-breast feeding weights, occurred in infants who had been struggling feeders before tongue release, within days after frenulectomy. There is more to be said about this study, but it seems to have “slipped my tongue,” so read about it online or in the Case Report section of the November issue of Pediatrics.        

Related Reading:

Thursday, September 26, 2013

Case Report: Wilson's Disease

Our Case Report Editor, Dr. Jeffery Malatack shares a case report we early released this month from our upcoming October issue:

Wilson Disease’s normal progression from asymptomatic accumulation of hepatic copper to varied manifestation of liver disease, neurologic involvement and anemia can go undiagnosed (because of these many possible presentations) until life threatening and/or liver transplantation-requiring disease evolves.  A high index of suspicion and earlier diagnosis renders Wilson Disease manageable in most instances without transplantation and before irreversible neurologic injury has occurred, allowing one or another medical “decoppering” therapy to be used effectively.

Dr. Rosen and colleagues (doi: 10.1542/peds.2012-2923) at the Children’s Hospital of Chicago identify yet another presentation to look out for: spasmodic muscle cramps and weakness. In Rosen’s patient’s case, the initial workup for a primary muscle disease led to recognition of liver disease and ultimately to the correct diagnosis. Copper chelation resolved the symptoms and abnormal laboratory findings over a few months without the need for liver transplantation. The lesson that muscle cramps may not be musculoskeletal in origin may have profound impact on early diagnosis in one of your patients.