Related Experiment Video

Updated: Jun 2, 2026

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
11:54

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

MPPH syndrome: two new cases

Wendy L Osterling1, Richard S Boyer, Gary L Hedlund

  • 1Department of Pediatrics, the University of Utah School of Medicine, Salt Lake City, Utah, USA.

Pediatric Neurology
|April 13, 2011
PubMed

Insights

This study reports two new cases of a rare infant syndrome involving megalencephaly and perisylvian polymicrogyria. A significant finding is the unexpected development of medulloblastoma in one child.

Area of Science:

  • Medical Genetics
  • Pediatric Neurology
  • Developmental Biology

Background:

  • Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome is a rare genetic disorder.
  • The syndrome affects infants and young children, presenting with macrocrania, developmental delay, and epilepsy.

Observation:

  • Two additional cases of this rare syndrome were identified.
  • One child developed medulloblastoma, a previously undocumented feature of this condition.

Findings:

  • The syndrome is characterized by macrocephaly, developmental delay, and hydrocephalus.
  • Medulloblastoma emerged as a novel, serious complication in one patient.

Implications:

  • This expands the known clinical spectrum of megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome.
  • Further research is needed to determine the genetic cause and optimal management strategies for this syndrome and its complications.

Related Concept Videos

Pharmaceutical Poisoning: Potential Scenarios01:26

Pharmaceutical Poisoning: Potential Scenarios

Pharmaceutical poisoning can occur through various channels, impacting an estimated 2 million hospitalized patients in the U.S. annually with serious adverse drug responses. These scenarios encompass both therapeutic uses, such as drug toxicity, where even standard dosages can lead to severe central nervous system depression, and non-therapeutic exposures, including accidental ingestion by children, and environmental and occupational exposures.Unintentional poisonings often involve exploratory...
Atypical Pneumonia01:14

Atypical Pneumonia

Atypical pneumonia, often caused by Mycoplasma pneumoniae, is a form of pulmonary infection that differs from the classical presentation of bacterial pneumonia in both its cause and clinical symptoms. Mycoplasma pneumoniae is a pleomorphic bacterium notable for its lack of a rigid cell wall. This structural characteristic imparts resistance to beta-lactam antibiotics and significantly influences the bacterium’s behavior within the human host.Other pathogens responsible for the disease include...
Pulmonary Hypertension: Classification and Pathogenesis01:30

Pulmonary Hypertension: Classification and Pathogenesis

Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
Rocky Mountain Spotted Fever01:26

Rocky Mountain Spotted Fever

Rocky Mountain Spotted Fever (RMSF) is a severe tick-borne illness caused by Rickettsia rickettsii, a Gram-negative, coccobacillary bacterium. This pathogen is an obligate intracellular parasite, requiring a host cell for replication. Transmission occurs through the bite of an infected tick. In the United States, the most important vectors are Dermacentor variabilis (American dog tick) and Dermacentor andersoni (Rocky Mountain wood tick), though other tick species may also serve as vectors.
Mitral Valve Prolapse II: Assessment and Management01:22

Mitral Valve Prolapse II: Assessment and Management

IntroductionA range of clinical features characterizes Mitral Valve Prolapse (MVP), but it is important to note that many individuals with MVP are asymptomatic and may remain so throughout their lives. For those who do exhibit symptoms, the following are the key clinical features:Palpitations: This is a common symptom where individuals feel an irregular or rapid heartbeat. Palpitations in MVP are often due to arrhythmias such as premature ventricular contractions or supraventricular tachycardia.