Living with Porencephaly-cerebellar hypoplasia-internal malformations syndrome
A very rare brain malformation syndrome with cysts in the brain, an underdeveloped cerebellum and sometimes heart or other organ differences.
Understanding Porencephaly-cerebellar hypoplasia-internal malformations syndrome
It involves cysts or cavities on both sides of the brain (bilateral porencephaly), a missing septum pellucidum and an underdeveloped cerebellum with no vermis. Facial differences, a large head, clouding of the cornea, and seizures have also been seen. Heart differences such as tetralogy of Fallot and atrial septal defects, and organs placed in a mirror image (situs inversus), have been observed.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Its description mentions these:
- Cysts or cavities on both sides of the brain
- Underdeveloped cerebellum
- Large head (macrocephaly)
- Wide-set eyes and high-arched palate
- Clouding of the cornea
- Seizures
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says this condition is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. It doesn't name a gene.
Also known as: bonnemann meinecke syndrome; bonnemann-meinecke syndrome; porencephaly cerebellar hypoplasia internal malformations; porencephaly, cerebellar hypoplasia, and internal malformations
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Porencephaly-cerebellar hypoplasia-internal malformations syndrome.
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