primary autosomal recessive microcephaly 16

Based on the search results, here is a description of primary autosomal recessive microcephaly (MCPH):

What is MCPH?

Primary autosomal recessive microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth [2]. It is also known as autosomal recessive primary microcephaly.

Characteristics of MCPH

People with MCPH may have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family [3]. The disorder is characterized by two principal features: microcephaly present at birth and nonprogressive mental retardation [1].

Impact on the brain

MCPH affects predominantly the cerebral cortex, which is responsible for various higher-order cognitive functions such as attention, memory, and language [7]. The disorder can lead to intellectual disability without extra-central nervous system malformation [8].

Prevalence and inheritance

MCPH is a rare disorder, with only a few reported cases in medical literature. It is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene for their child to develop the condition.

In summary, primary autosomal recessive microcephaly (MCPH) is a rare genetic disorder characterized by reduced head circumference at birth and associated with intellectual disability, seizures, and other neurological symptoms.

Based on the provided context, here are the signs and symptoms of primary autosomal recessive microcephaly (MCPH):

Common Signs and Symptoms:

• Small head size compared to others in their family [1]
• Mild seizures (present in about 10% of cases) [2]
• Delayed early motor milestones and speech delay [2]
• Hyperactive behavior [2]
• Short stature compared to others in their family [1]

Additional Clinical Features:

• Aggressive behavior [3]
• Bimanual synkinesia (a neurological disorder characterized by involuntary movements of the hands) [3]
• Cerebellar vermis hypoplasia (underdevelopment of a part of the cerebellum) [3]
• Delayed speech and language development [3]
• Global developmental delay (delay in overall development, including cognitive, motor, and language skills) [3]

Other Symptoms:

• Intellectual disability or delayed intellectual development [4]
• Reduced head circumference due to abnormal brain growth and/or atrophy [5]
• Simplification of the cerebral cortical gyral pattern (a characteristic feature of MCPH) [8]

These symptoms can vary in severity and may not be present in all individuals with primary autosomal recessive microcephaly.

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

• Exome Sequencing with CNV Detection: This test is available and approved in New York State. It can detect genetic mutations associated with MCPH ([2]).
• Prenatal Ultrasound: Microcephaly can be diagnosed on prenatal ultrasound, although the absence of microcephaly does not exclude the condition ([3]).
• Molecular Genetic Testing: Testing for several genes is available to diagnose MCPH. This test can identify genetic mutations that cause the condition ([3]).
• Exome-based NextGen Sequencing with CNV analysis: This is a cost-effective testing approach that allows for reflexing to PGxome or other exome-based sequencing tests ([9]).

Additionally, diagnostic criteria for autosomal recessive primary microcephaly (MCPH) include:

• Congenital microcephaly (3 SD below the mean at birth or at least 4 SD below the mean) ([7])
• Head circumference measurement: Head circumference is the most common diagnostic tool for MCPH. It has been observed that HC ranges from 2 to 6 standard deviations below the mean ([10])

Please note that these tests and criteria are based on the provided context, which may not be comprehensive or up-to-date. If you have any further questions or would like more information, feel free to ask!

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

Symptomatic Treatment

• Physical therapy may be beneficial to help manage any physical limitations or developmental delays associated with MCPH [1].
• Speech therapy may also be helpful in addressing communication difficulties that may arise due to the condition [1].

Medical Management

• Seizures, which are a common feature of MCPH, can usually be stabilized with common anticonvulsants [1].
• A multidisciplinary team, often including a pediatric neurologist and developmental pediatrician, speech-language pathologist, and other specialists, may provide care for individuals with MCPH [4].

Lack of Cure

• Unfortunately, there is no treatment that can return the baby's head to a normal size or shape, and microcephaly is a lifelong condition with no cure [6][7][8].

It's essential to consult with a healthcare professional for medical advice and treatment specific to each individual case.

Differential Diagnosis of Primary Autosomal Recessive Microcephaly

Primary autosomal recessive microcephaly (MCPH) is a rare neurodevelopmental disorder characterized by reduced head circumference at birth, with no major brain abnormalities. When diagnosing MCPH, it's essential to consider differential diagnoses that can mimic its symptoms.

Key Differential Diagnoses:

• Seckel Syndrome: A rare genetic disorder characterized by microcephaly, intellectual disability, and distinctive facial features.
• Microcephalic Primordial Dwarfism: A group of disorders characterized by severe microcephaly, short stature, and intellectual disability.
• Other Primary Microcephalies: There are several other primary microcephalies that can present with similar symptoms to MCPH, including autosomal dominant primary microcephaly and X-linked primary microcephaly.

Diagnostic Considerations:

When diagnosing MCPH, it's crucial to consider the following factors:

• Genetic Testing: Genetic testing can help identify pathogenic variants in genes associated with MCPH.
• Imaging Studies: Imaging studies such as ultrasound and MRI can help rule out other conditions that may present with similar symptoms.
• Clinical Evaluation: A thorough clinical evaluation, including a detailed medical history and physical examination, is essential to diagnose MCPH accurately.

References:

• [1] Woods CG. (2005) Primary microcephalies: looking for the missing link between microcephaly and mental retardation. Cited by 536.
• [3] Autosomal recessive primary microcephaly (MCPH) is a rare disorder characterized by reduced head circumference at birth, with no major brain abnormalities. It ... (Source: [9])
• [5] Neuroimaging of the brain with ultrasound and/or MRI are useful for the differential diagnosis in patients with primary microcephaly. (Source: [5])

Note: The above information is based on the search results provided and may not be an exhaustive list of differential diagnoses or diagnostic considerations.