Pontine tegmental cap dysplasia

Alternate names

PTCD

Definition

Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.

Cause

The cause of pontine tegmental cap dysplasia PTCD is unknown. Researchers have suggested different processes that may lead to PTCD including:

• A problem with the movement of cells in the developing brain (neuronal migration)
• A disorder of ciliary proteins, structures that play a vital role in human development and everyday functioning
• Impaired axonal guidance, part of neural development involving how neurons (nerve cells) send axons (nerve fibers) out to reach correct targets
• More research is needed for the scientific community to form a consensus on the underlying cause or causes of PTCD.

Inheritance

To date, all reported cases have been sporadic with no family history of the condition.

Signs and symptoms

• Patients with pontine tegmental cap dysplasia (PTCD) present with a variety of medical and developmental problems.
• Not all patients will have the same issues and the severity of symptoms may differ.
• The following features have been found in studies of patients with PTCD: hearing impairment, feeding and swallowing difficulties that often lead to pneumonia, intellectual disability that ranges from mild to severe, speech and language disorders, hypotonia, ataxia, facial paralysis, reduced vision, and behavioral problems.
• Individuals with PTCD may also have abnormalities of the heart, gastrointestinal tract, genitourinary system and skeleton.

Clinical presntation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Intellectual disability(Mental deficiency)

5%-29% of people have these symptoms

• Ankle clonus(Abnormal rhythmic movements of ankle)
• Hypoplasia of the corpus callosum(Underdevelopment of part of brain called corpus callosum)
• Seizure

1%-4% of people have these symptoms

• Hyperreflexia(Increased reflexes)

Diagnosis

PTCD is distinguished from Moebius syndrome, by the MRI findings and the substantial developmental delays in all reported patients with PTCD.

Treatment

Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation.

Prognosis

The severity of the medical problems varies among patients. Some patients have a good long-term prognosis with normal intelligence and partial speech.

NIH genetic and rare disease info

• NIH info on Pontine tegmental cap dysplasia

Pontine tegmental cap dysplasia is a rare disease.

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