Living with Lissencephaly with cerebellar hypoplasia type B
A form of lissencephaly with a slightly small head, low muscle tone, delayed development, and hippocampus differences.
Understanding Lissencephaly with cerebellar hypoplasia type B
It involves a slightly small head, low muscle tone (hypotonia), and delays in nervous system and thinking development. A hippocampal malformation, a difference in the memory-related part of the brain, is a characteristic finding on imaging. It may be noticed during pregnancy, at birth, or in infancy.
Signs & symptoms
GARD doesn't list a symptom list for this condition. Its summary describes these features:
- Slightly small head (microcephaly)
- Low muscle tone (hypotonia)
- Delayed neurological development
- Delayed thinking development
- Hippocampal malformation on imaging
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, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 Child Neurology Foundation and other patient organizations
- 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 doesn't describe a cause for this condition yet.
Also known as: lissencephaly co-occurrent with congenital cerebellar hypoplasia type b
Patient organizations
- Child Neurology FoundationLissencephaly with cerebellar hypoplasia type B · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Lissencephaly with cerebellar hypoplasia type B.
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