microlissencephaly

Microlissencephaly (MLIS) is a rare congenital brain disorder that combines severe microcephaly (small head) with lissencephaly (smooth brain surface due to absent sulci and gyri). It is a malformation of cortical development (MCD) that occurs due to failure of normal brain development during embryonic life.

Characteristics of microlissencephaly include:

• Severe microcephaly: The head is significantly smaller than average.
• Lissencephaly: The surface of the brain appears smooth, with absent or abnormally formed sulci and gyri.
• Spasticity: Stiffness and rigidity of muscles, often leading to difficulty moving or controlling movements.
• Severe developmental delay: Significant delays in achieving milestones such as sitting, crawling, walking, and talking.
• Seizures: Frequent and severe seizures are common.

Survival varies from days to years, depending on the severity of the condition. Microlissencephaly is a heterogeneous disorder, meaning it has many different causes and a variable clinical course.

Microlissencephaly is a rare cortical malformation characterized by lissencephaly (smooth brain) in combination with severe congenital microcephaly (small head size). The condition presents with a range of symptoms, including:

• Seizures: A common symptom of microlissencephaly, seizures can be severe and may occur frequently.
• Spasticity: Muscle stiffness or rigidity is often present in individuals with microlissencephaly.
• Developmental delays: Children with microlissencephaly typically experience significant delays in cognitive, motor, and language development.
• Severe developmental delay: The condition can lead to severe intellectual disability, making it challenging for affected individuals to perform daily tasks or communicate effectively.

Additional symptoms may include:

• Unpredictable movements
• Difficulty controlling muscles
• Muscles that are too tight or too floppy
• Feeding difficulties
• Growth retardation
• Impaired motor abilities

It's worth noting that the severity and range of symptoms can vary significantly among individuals with microlissencephaly. Some may experience more severe symptoms, while others may have milder manifestations.

References:

• [1] Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly...
• [3] In children with reduced head size at birth, the condition microlissencephaly is typically diagnosed. Lissencephaly is caused by defective neuronal migration during embryonic development...
• [5] SIGNS AND SYMPTOMS · Difficulty controlling muscles · Lack of movement · Muscles that are too tight or too floppy · Unpredictable movements.
• [6] Additional abnormalities may include seizures, profound intellectual disability, feeding difficulties, growth retardation, and impaired motor abilities. If an ...
• [7] Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor ...

Diagnostic Tests for Microlissencephaly

Microlissencephaly, a rare cortical malformation, can be diagnosed using various imaging tests and genetic analyses.

• Head Ultrasound: A noninvasive diagnostic test that uses high-frequency sound waves to create real-time pictures or videos of internal organs or tissues. This test is used to help diagnose lissencephaly once the baby is born [3].
• Brain MRI: Magnetic Resonance Imaging (MRI) can be used postnatally to reliably diagnose LIS and differentiate it from other malformations, such as cobblestone malformation and polymicrogyria [4].
• Neuropathological Examination: A detailed examination of the cortex is necessary for a definitive diagnosis of microlissencephaly.
• Genetic Tests: Integrated disease information for Microlissencephaly includes associated genes, mutations, phenotypes, pathways, drugs, and more - integrated from 75 data sources [5]. Genetic tests can help identify specific genetic causes of the condition.

Additional Diagnostic Considerations

An abnormal EEG pattern may prompt further brain imaging and lead to the diagnosis of lissencephaly [8].

Establishing Care and Diagnosis

Establishing care with an engaged and dedicated primary care provider (PCP) may improve care and shorten the time it takes to reach an accurate diagnosis. A PCP can help you get specialist referrals, order diagnostic tests, and coordinate providers as you build a healthcare team [10].

Treatment Options for Microlissencephaly

Microlissencephaly, a rare and severe form of lissencephaly, requires comprehensive treatment to manage its symptoms and complications. While there is no cure for the condition, various therapies can help improve the quality of life for individuals affected by microlissencephaly.

Medications

• Anti-seizure medications: Standard treatment involves using anti-seizure medication based on the specific seizure type and frequency [8]. Polytherapy with valproic acid and lamotrigine appears to be most effective in reducing drug-resistant seizures [15].
• Daily medications: Most children with lissencephaly, including those with microlissencephaly, need daily medications to prevent seizures and treat other complications [6][7].

Therapeutic Approaches

• Physical therapy: To improve mobility and manage spasticity [6].
• Occupational therapy: To enhance daily living skills and independence [6].
• Speech therapy: To address communication difficulties [6].
• Vision therapy: To support visual development and management of related complications [6].

Other Interventions

• Gastrostomy tube placement: For those with failure to thrive, dysphagia, and/or recurrent aspiration pneumonia [15].
• Stool softeners: To manage constipation and related bowel issues [15].

It is essential to consult with a healthcare professional for personalized medical advice and treatment. They can help develop a comprehensive care plan tailored to the individual's specific needs.

References:

[6] - Context result 6 [7] - Context result 7 [8] - Context result 8 [15] - Context result 15

Microlissencephaly, also known as Barth microlissencephaly syndrome, is a rare congenital brain disorder characterized by severe microcephaly (small head) and lissencephaly (smooth brain surface). When considering the differential diagnosis for microlissencephaly, several conditions should be taken into account.

• Classic lissencephaly: This condition is often distinguished from microlissencephaly by its less severe clinical course and the presence of other congenital anomalies. Classic lissencephaly can be reliably diagnosed through brain MRI or neuropathological examination of the cortex.
• Cobblestone malformation: This rare cortical malformation should be carefully differentiated from microlissencephaly on MRI images, as it presents with a similar smooth brain surface but distinct cobblestone-like appearance.
• Polymicrogyria: Another MCD (malformation of cortical development) that can resemble microlissencephaly in its imaging characteristics. However, polymicrogyria is typically characterized by an increased number of small gyri and shallow sulci.
• Microcephaly with simplified gyral pattern: This condition presents with a reduced number of gyri and shallow sulci but does not exhibit the severe lissencephalic features seen in microlissencephaly.

It's essential to note that differential diagnosis for microlissencephaly can be challenging, and a comprehensive evaluation by specialists is often required. A rare disease expert may need to be consulted to provide guidance on the level of care and potential treatment options.

References:

• [8] describes microlissencephaly as a heterogeneous disorder with many different causes and variable clinical course.
• [9] highlights the importance of differential diagnosis from other MCDs, especially cobblestone malformation and polymicrogyria.
• [10] lists more than 20 types of lissencephaly, including classic and cobblestone lissencephaly, which should be considered in the differential diagnosis for microlissencephaly.