[Andermann syndrome: presentation of a case]

Area of Science:

• Neurology
• Genetics
• Rare Diseases

Background:

• Andermann's syndrome is a rare, autosomal recessive hereditary disorder.
• It is characterized by peripheral neuropathy, agenesis of the corpus callosum, mental retardation, and dysmorphic features.
• The disorder typically involves progressive deterioration, motor skill loss, scoliosis, behavioral issues, and early mortality.

Observation:

• A 13-year-old girl presented with an atypical clinical course suggesting a spastic tetraparesic type of PCI.
• Her phenotype included unusual dysmorphic facial changes, axial hypotonia, hand flexion-retraction, generalized arreflexia, neurogenic bladder, leg ulcers, and mental retardation.
• Neurophysiological studies revealed a predominantly motor polyneuropathy with axonal damage in sural nerve and muscle biopsies.

Findings:

• The patient's clinical presentation, microcephaly, agenesis of the corpus callosum, posterior fossa cyst, and spinal atrophy confirmed the diagnosis of Andermann's syndrome.
• Axonal neuropathy was evident on nerve and muscle biopsies.
• The syndrome's rarity in the described population makes this case particularly noteworthy.

Implications:

• This case underscores the importance of considering Andermann's syndrome in patients with unexplained neurological deficits and specific phenotypic features.
• Accurate diagnosis is crucial for appropriate management and genetic counseling.
• Further research into the genetic basis and clinical spectrum of Andermann's syndrome is warranted, especially in diverse populations.