Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Infantile Cerebral and Cerebellar Atrophy with Postnatal Progressive Microcephaly

Diagram showing autosomal recessive inheritance pattern.

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare genetic disorder characterized by significant neurological deterioration in infants. This condition is marked by the progressive shrinking of the cerebrum and cerebellum, leading to severe microcephaly after birth. The disorder is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations.

Clinical Features

The primary clinical feature of this disorder is the progressive reduction in head size, known as microcephaly, which becomes apparent after birth. Infants with this condition typically present with normal head circumference at birth, but as they grow, the head size does not increase at the expected rate, leading to microcephaly.

Other clinical features include:

• Severe developmental delay
• Hypotonia (reduced muscle tone)
• Seizures
• Poor feeding
• Spasticity

The progressive nature of the disorder means that symptoms worsen over time, with significant impacts on the child's neurological development.

Pathophysiology

The pathophysiology of infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly involves the degeneration of neurons in the cerebral cortex and cerebellum. This neuronal loss leads to the atrophy of these brain regions, which is reflected in the reduced head size and neurological deficits observed in affected individuals.

The genetic basis of the disorder is linked to mutations in specific genes responsible for normal brain development and function. The exact mechanisms by which these mutations lead to neuronal degeneration are still under investigation.

Diagnosis

Diagnosis of this condition is based on clinical evaluation, including:

• Measurement of head circumference over time
• Magnetic resonance imaging (MRI) to assess brain structure
• Genetic testing to identify mutations associated with the disorder

Early diagnosis is crucial for managing symptoms and providing supportive care to affected individuals.

Management

There is currently no cure for infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly. Management focuses on supportive care and symptomatic treatment, which may include:

• Physical therapy to improve motor skills
• Occupational therapy
• Speech therapy
• Anticonvulsant medications to control seizures

Supportive care aims to improve the quality of life for affected individuals and their families.

Genetic Counseling

Genetic counseling is recommended for families with a history of this disorder. Since the condition is inherited in an autosomal recessive manner, there is a 25% chance with each pregnancy that the child will be affected if both parents are carriers of the mutated gene.

Related Pages

• Microcephaly
• Cerebral atrophy
• Cerebellar atrophy
• Genetic disorders
• Autosomal recessive inheritance