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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pontine tegmental cap dysplasia


Other Names for this Disease
  • PTCD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My 9 month old granddaughter was recently diagnosed with pontine tegmental cap dysplasia. We realize this is an extraordinarily rare condition and we are looking for an explanation of this condition.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is pontine tegmental cap dysplasia?

Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.[1] Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia, language and speech disorders, feeding and swallowing difficulties, heart malformations and facial paralysis. The severity of the medical problems varies among patients. Some patients have a good long-term prognosis with normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may interventions such as cochlear implantation.[2] 
Last updated: 5/24/2016

What are the signs and symptoms of pontine tegmental cap dysplasia?

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.[2][3]

 

 

Last updated: 5/24/2016

What causes pontine tegmental cap dysplasia?

The cause of pontine tegmental cap dysplasia PTCD is unknown. To date, all reported cases have been sporadic with no family history of the condition. 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.[2][4]
Last updated: 5/24/2016

What is the long-term outlook for pontine tegmental cap dysplasia?

The long-term outlook (prognosis) of pontine tegmental cap dysplasia (PTCD) varies. Language disorders are a constant feature in PTCD and may result in a range of symptoms including complete absence of verbal language, sign language only, and understandable speech with moderate to severe problems in both being able to understand and to express oneself. The neurological outcome of PTCD is also variable, ranging from severe intellectual disability to normal intelligence.[2]
Last updated: 5/24/2016

References
Other Names for this Disease
  • PTCD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.