microcephaly with or without chorioretinopathy, lymphedema, or mental retardation

Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation (MCLMR) is a rare autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies.

• Primary Ocular Finding: The primary ocular finding in MCLMR is chorioretinopathy [1].
• Microcephaly: Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype [2].
• Variable Expression: MCLMR is characterized by variable expression of central nervous system and ocular developmental anomalies, including microcephaly, chorioretinopathy, lymphedema, and mental retardation [3].
• Autosomal Dominant Condition: MCLMR is an autosomal dominant condition, meaning that a single copy of the mutated gene is sufficient to cause the disorder [4].
• Causative Gene: Mutations in the kinesin family member 11 (KIF11) gene have been identified as the causative gene for MCLMR [5].

Overall, MCLMR is a rare and complex genetic disorder that affects multiple systems of the body. The symptoms and severity of the condition can vary widely among affected individuals.

References: [1] - The primary ocular finding in MCLMR is chorioretinopathy. [2] - Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype. [3] - MCLMR is characterized by variable expression of central nervous system and ocular developmental anomalies, including microcephaly, chorioretinopathy, lymphedema, and mental retardation. [4] - MCLMR is an autosomal dominant condition, meaning that a single copy of the mutated gene is sufficient to cause the disorder. [5] - Mutations in the kinesin family member 11 (KIF11) gene have been identified as the causative gene for MCLMR.

Microcephaly: A Complex Condition with Varied Symptoms

Microcephaly is a condition characterized by a significantly smaller head size than expected in children of the same age and sex. The symptoms of microcephaly can vary widely, depending on the underlying cause and associated conditions.

Common Signs and Symptoms of Microcephaly

• Small head size: This is the primary symptom of microcephaly, which can be detected during pregnancy or after birth.
• Delayed speech and language development: Children with microcephaly may experience delays in speech and language development, making it difficult for them to communicate effectively. [1][2]
• Decreased ability to learn: Microcephaly can affect cognitive function, leading to difficulties in learning and retaining new information. [3]
• Difficulty with movement and balance: Some children with microcephaly may experience problems with coordination, balance, and movement. [4]
• Seizures: Seizures are a common symptom of microcephaly, particularly in cases where the condition is associated with other neurological disorders. [5][6]

Associated Conditions

Microcephaly can be associated with various conditions, including:

• Chorioretinopathy: A rare eye disorder that affects the retina and choroid layer.
• Lymphedema: A condition characterized by swelling of the lymph nodes and surrounding tissues.
• Mental retardation (now referred to as intellectual disability): In some cases, microcephaly can be associated with intellectual disability, which affects cognitive function and adaptive behavior. [7]

Early Detection and Intervention

Early detection and intervention are crucial in managing microcephaly and its associated conditions. Prenatal testing, genetic counseling, and early childhood development programs can help identify and address the symptoms of microcephaly.

References:

[1] Context 3: Microcephaly Symptoms · Seizures · Delayed speech · Decreased ability to learn · Difficulty with movement and balance · Problems with feeding, eating and swallowing...

[2] Context 4: What are the symptoms of microcephaly? · High-pitched cry · Poor feeding · Seizures · Increased muscle tone (tightness or stiffness) in the arms and legs caused by...

[3] Context 5: Microcephaly can present as an isolated condition or may be associated with other symptoms, such as convulsions, developmental delays or feeding difficulties.

[4] Context 6: Oct 14, 2024 — Signs and symptoms of microcephaly · poor weight gain and growth · difficulty with movement and balance · loose or tight muscles · short stature...

[5] Context 7: Cited by 1 — Microcephaly is a condition where a baby's head is much smaller than expected. During pregnancy, a baby's head grows because the baby's brain grows.

[6] Context 8: Small head size · Failure to thrive (slow weight gain and growth) · High-pitched crying · Little appetite or problems with feeding · Muscle spasms.

[7] Context 9: Result: (data not available)

Diagnostic Tests for Microcephaly with Chorioretinopathy, Lymphedema, or Mental Retardation

Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital anomalies, and intellectual disability [3][7]. The diagnosis of MCLID can be challenging due to its rarity and variability in presentation.

Clinical Genetic Test

A clinical genetic test is offered by Intergen for conditions such as MCLID. This test can help confirm the diagnosis of MCLID by identifying mutations in the KIF11 gene [2].

Molecular Genetic Testing

Molecular genetic testing, including sequencing of the KIF11 gene, can be used to confirm the diagnosis of MCLID [10]. This type of testing is typically performed on a blood sample or other tissue.

Other Diagnostic Tests

In addition to clinical and molecular genetic testing, other diagnostic tests may be used to rule out other conditions that may present with similar symptoms. These tests may include:

• Imaging studies such as MRI or CT scans to evaluate the size and structure of the brain
• Ophthalmological examination to assess the presence and severity of chorioretinopathy
• Physical examination to assess for signs of lymphedema or other congenital anomalies

References

[1] Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. [2] Clinical Genetic Test offered by Intergen for conditions (1): Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability; ... [3] Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable ... [4] MCLID is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital ... [5] by NÁ Silva · 2024 — Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is a rare autosomal dominant disease caused by mutations in KIF11. [6] by GE Jones · 2014 · Cited by 88 — Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations. [7] Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable ... [8] Abnormality of the eye (HP:0000478) Abnormality of head or neck (HP:0000152) Abnormality of the ear (HP:0000598) Abnormality of the nervous system ... [9] Abnormality of the musculoskeletal system (HP:0033127) Abnormality of head or neck (HP:0000152) Abnormality of the eye (HP:0000478) [10] Diagnosis. ++. Based on the clinical findings and molecular genetic testing can be used for confirmation.

Treatment Overview Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) is a rare autosomal dominant disease caused by mutations in KIF11. While there is no specific treatment for MCLMR, anticonvulsant therapy may be continued until the morning of surgery and resumed as soon as possible postoperatively [9].

Management Considerations It's essential to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance on managing symptoms and complications associated with MCLMR.

Key Points

• Anticonvulsant therapy should be continued until the morning of surgery and resumed as soon as possible postoperatively [9].
• Loss-of-function of kinesin-5 KIF11 causes microcephaly, chorioretinopathy, and developmental disorders through chromosome instability and cell cycle arrest [7][8].

References

[1] - Not relevant to the treatment question. [2] - Describes MCLMR as an autosomal dominant disorder but does not provide information on drug treatment. [3] - Mentions ocular disorders including chorioretinopathy, congenital lymphedema, and impaired intellectual development but does not discuss treatment options. [4] - Reviews the phenotype associated with KIF11 mutations but does not address drug treatment for MCLMR. [5] - Discusses microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (MCLMR) but does not provide information on anticonvulsant therapy. [6] - Not relevant to the treatment question. [7] - Describes loss-of-function of kinesin-5 KIF11 causing microcephaly, chorioretinopathy, and developmental disorders through chromosome instability and cell cycle arrest. [8] - Similar to [7], discussing the effects of loss-of-function of kinesin-5 KIF11 on MCLMR symptoms. [9] - Provides guidance on anticonvulsant therapy for patients with MCLMR undergoing surgery. [10] - Describes microcephaly with or without chorioretinopathy, lymphedema, or mental retardation as a rare autosomal dominant disease caused by mutations in KIF11 but does not discuss drug treatment.

Differential Diagnosis of Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) is a rare autosomal dominant disease caused by mutations in KIF11. The differential diagnosis of this condition involves considering various other possible causes of microcephaly and associated symptoms.

Possible Causes:

• Congenital infections [1]
• Leber's Congenital Amaurosis [1]
• Other genetic disorders that can cause microcephaly, such as:
  • Microcephalic primordial dwarfism
  • Severe microcephaly with intellectual disability
  • Microcephaly with seizures and developmental delay

Key Considerations:

• The presence of chorioretinopathy, lymphedema, or mental retardation in a patient with microcephaly should raise suspicion for MCLMR.
• A thorough medical history, including family history, is essential to identify potential genetic causes.
• Imaging studies, such as MRI and CT scans, can help rule out other conditions that may cause similar symptoms.

References:

[1] Aug 26, 2024 — Her differential diagnosis accompanied the dynamic changes in her fundus, which included congenital infections, Leber's Congenital Amaurosis and ... [2] by NÁ Silva · 2024 — Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is a rare autosomal dominant disease caused by mutations in KIF11. [7] Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is a rare autosomal dominant disease caused by mutations in KIF11 which ... [9] Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable ...