Chudley–Mccullough syndrome

Chudley–McCullough Syndrome is a rare genetic disorder characterized by several congenital anomalies, including sensorineural hearing loss, brain malformations, and, in some cases, arachnoid cysts. First described by Chudley and McCullough in 1995, the syndrome has since been identified in a small number of cases worldwide, contributing to a growing understanding of its genetic basis and clinical manifestations.

Genetics

Chudley–McCullough Syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The condition has been linked to mutations in the GPC6 gene, which plays a crucial role in the development of the central nervous system and auditory structures.

Clinical Features

The hallmark of Chudley–McCullough Syndrome is profound sensorineural hearing loss, which is present from birth. Affected individuals may also exhibit a range of brain abnormalities, including partial or complete agenesis of the corpus callosum, which is the structure that connects the two hemispheres of the brain. Arachnoid cysts, which are fluid-filled sacs located on the arachnoid membrane that covers the brain and spinal cord, are another common feature.

Other potential manifestations include developmental delay, intellectual disability, and various physical anomalies such as craniofacial abnormalities, though the presence and severity of these features can vary widely among individuals with the syndrome.

Diagnosis

Diagnosis of Chudley–McCullough Syndrome is based on clinical evaluation and the identification of characteristic features, such as sensorineural hearing loss and brain malformations. Genetic testing can confirm a diagnosis by identifying mutations in the GPC6 gene.

Management

Management of Chudley–McCullough Syndrome is symptomatic and supportive. Interventions may include hearing aids or cochlear implants to address hearing loss, as well as various therapies (e.g., physical, occupational, and speech therapy) to support development and address any physical or intellectual disabilities. Regular follow-up with a multidisciplinary team of healthcare providers is essential to address the complex needs of individuals with this condition.

Prognosis

The prognosis for individuals with Chudley–McCullough Syndrome varies depending on the severity of the symptoms and the effectiveness of management strategies. With appropriate support, many affected individuals can achieve a good quality of life.