primary autosomal recessive microcephaly 19

Primary Autosomal Recessive Microcephaly-19 (MCPH19) Description

Primary autosomal recessive microcephaly-19 (MCPH19) is a rare congenital brain defect characterized by a significant reduction in head circumference, severe intellectual disability, and nonprogressive mental retardation [1]. It is a neurodevelopmental disorder that affects predominantly the cerebral cortex [8].

The condition is marked by reduced occipitofrontal head circumference at birth, with variable degrees of mental retardation [7]. Individuals with MCPH19 often have normal brain anatomy but exhibit significant cognitive impairment [9].

MCPH19 is a rare genetically heterogeneous disorder of neurogenic brain development, characterized by reduced head circumference and severe intellectual disability [3]. The condition is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene to pass it on to their offspring [2, 4, 5].

Key Features:

• Reduced occipitofrontal head circumference at birth
• Severe intellectual disability and nonprogressive mental retardation
• Normal brain anatomy but significant cognitive impairment
• Autosomal recessive inheritance pattern

References:

[1] - Context result 2 [2] - Context result 3 [3] - Context result 4 [4] - Context result 5 [7] - Context result 7 [8] - Context result 8 [9] - Context result 9

Signs and Symptoms of Primary Autosomal Recessive Microcephaly

Primary autosomal recessive microcephaly (MCPH) is a rare genetic disorder characterized by reduced head circumference. The signs and symptoms of MCPH can vary in severity, but they often include:

• Reduced Head Circumference: One of the most distinctive features of MCPH is a significantly smaller head size compared to others in their family [1].
• Intellectual Disability: Individuals with MCPH may experience intellectual disability or delayed speech and language development [4].
• Global Developmental Delay: Children with MCPH often exhibit global developmental delay, which can manifest as delays in achieving motor milestones, such as sitting, standing, or walking [3].
• Behavioral Problems: Some individuals with MCPH may display hyperactive behavior, aggression, or other behavioral problems [2][5].
• Short Stature: People with MCPH might experience short stature compared to others in their family [1].
• Mild Seizures: In some cases, seizures may be present, although this is not a universal symptom [1].

It's essential to note that the severity and specific symptoms of MCPH can vary significantly among individuals. If you suspect someone has MCPH or any other genetic disorder, consult with a qualified healthcare professional for an accurate diagnosis and guidance.

References: [1] Context 1: Apr 1, 2011 — Some have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family. [2] Context 3: Clinical features · Aggressive behavior · Bimanual synkinesia · Cerebellar vermis hypoplasia · Delayed speech and language development · Global developmental delay [3] Context 3: Clinical features · Aggressive behavior · Bimanual synkinesia · Cerebellar vermis hypoplasia · Delayed speech and language development · Global developmental delay [4] Context 4: Apr 1, 2011 — The head and brain grow throughout childhood and adolescence, but they continue to be much smaller than normal. MCPH causes intellectual ... [5] Context 8: Additional clinical features may include short stature or mild seizures. MCPH is associated with a simplification of the cerebral cortical gyral pattern and a ...

Based on the provided context, here are some diagnostic tests for primary autosomal recessive microcephaly (MCPH):

• Clinical tests: There are 4 available clinical tests in the database for this condition [1].
• Molecular Genetics Tests: Sequence analysis of the entire coding region of the MCPH genes is available to diagnose the condition [2].
• Prenatal ultrasound: The condition can be diagnosed on prenatal ultrasound, but absence of microcephaly does not exclude the diagnosis [2].
• Blood test: A blood test may prove that your child has autosomal recessive primary microcephaly, and there is also a chance that the test will find something that we do not [6].

Additionally, molecular genetic testing is available for several genes associated with syndromes where microcephaly is a clinical feature, such as Rett syndrome and Angelman syndrome [5].

Based on the provided context, it appears that there is no specific treatment for primary autosomal recessive microcephaly (MCPH). However, I can provide some information on the general management and care for individuals with this condition.

Management of Symptoms

While there is no cure for MCPH, a multidisciplinary team of healthcare professionals, including pediatric neurologists and developmental pediatricians, can help manage symptoms such as seizures. Physical and speech therapy may also be beneficial in improving overall quality of life (Context 4).

Epilepsy Management

Some individuals with MCPH may experience seizures, which are usually stabilized with common anticonvulsants (Context 1). However, there is no specific treatment for the underlying condition.

Lifelong Condition

Microcephaly is a lifelong condition that has no cure. Treatment focuses on managing symptoms and improving quality of life (Contexts 6, 7, 9).

It's essential to note that each individual with MCPH may have unique needs and requirements. A healthcare professional can provide personalized guidance and support for individuals with this condition.

References: [1] Context 4 [2] Context 1 [3] Context 6 [4] Context 7 [5] Context 9

To determine the differential diagnosis for primary autosomal recessive microcephaly, several conditions and factors should be considered.

• Congenital infections: Infections such as toxoplasmosis, rubella, and cytomegalovirus can cause microcephaly [5].
• Genetic disorders: Other genetic disorders like trisomy 13, trisomy 18, and Prader-Willi syndrome can also present with microcephaly [9].
• Metabolic conditions: Metabolic conditions such as phenylketonuria (PKU) and maple syrup urine disease can cause microcephaly [10].
• Neurodevelopmental disorders: Neurodevelopmental disorders like autism spectrum disorder and intellectual disability can sometimes be associated with microcephaly [4].

It's also important to note that the distinction between primary and secondary microcephaly is crucial in differential diagnosis. Primary microcephaly refers to a condition where the head circumference is significantly smaller than average at birth, while secondary microcephaly occurs when there is a significant reduction in head size after birth due to various factors [10].

In addition, neuroimaging studies such as ultrasound and MRI can be useful in differentiating primary microcephaly from other conditions that may present with similar symptoms [5].