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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Broad gyri of cerebrum
  • Large gyri of cerebrum
  • Macrogyria
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Your Question

I have been diagnosed with pachygyria (macrogyria). I don't have mental retardation, in fact I have a high IQ. I have severe migraines and recently started having seizures. Could pachygyria be causing my problems? Are there any other problems that could be caused by pachygyria? Is there a treatment for it? Also, what is pseudobulbar palsy?

Our Answer

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

What symptoms might pachygyria cause in affected adults? Is pachygyria associated with other conditions in adults?

Pachygyria (macrogyria) has been diagnosed in adults with epilepsy.[1] Pachygyria has also occurred in association with pseudobulbar palsy and intellectual disability in both children and adults.[1][2] The severity of symptoms associated with pachygyria varies depending on a variety of factors, including the location and size of the abnormality.[3]
Last updated: 11/22/2013

What is pseudobulbar palsy?

Pseudobulbar palsy is characterized by difficulty speaking and swallowing, a hyperactive gag reflex, and emotional outbursts.[4][5] Pseudobulbar palsy causes a slow and labored speech with a harsh, strained, strangled, and nasal sound.[4] Swallowing is difficult due to an inability to coordinate chew and swallow reflexes.[5] There can be a lack of voluntary facial movements and spontaneous or unmotivated crying and laughter (emotional lability).[5][6]

Pseudobulbar palsy is caused by lesions of the corticobulbar tracts (upper motor neurons).[4][5][6] These tracts contain nerves which control muscles of the head and face (including the pharynx, palate, lips, tongue, and larynx). The lesions may develop in association with strokes, blood cancers (leukemia), or trauma.[5] Pseudobulbar palsy can also occur in association with CADASIL, progressive supranuclear palsy, central pontine myelinolysis, congenital bilateral perisylvian syndrome, pachygyria and acquired epileptiform opercular syndrome (seizure induced symptoms).[5][6]

Last updated: 11/22/2013

What treatment options are available for adults with pachygyria?

Treatment is symptomatic, and may include anti-seizure medication and physical, occupational, and speech therapies as needed.[3]
Last updated: 11/22/2013

References
  • Ambrosetto G, Tassinari CA. Sleep-related focal motor seizures in bilateral central macrogyria. Ann Neurol. 1990 Dec; 28(6):840-842. http://www.ncbi.nlm.nih.gov/pubmed/2126685. Accessed 11/21/2013.
  • Kuzniecky R, Andermann F, Tampieri D, Melanson D, Olivier A, Leppik I. Bilateral central macrogyria: epilepsy, pseudobulbar palsy, and mental retardation--a recognizable neuronal migration disorder. Ann Neurol. 1989 Jun; 25(6):547-554. http://www.ncbi.nlm.nih.gov/pubmed/2500888. Accessed 11/21/2013.
  • NINDS Neuronal Migration Disorders Information Page. National Institute of Neurological Disorders and Stroke (NINDS) Web site. 2007; http://www.ninds.nih.gov/health_and_medical/disorders/neuronal_migration.htm. Accessed 8/18/2009.
  • Blitzer A, Alexander RE, Grant NN. Neurologic Disorders of the Larynx. In: Flint. Cummings Otolaryngology: Head & Neck Surgery, 5th ed. Philadelphia, PA: Mosby, An Imprint of Elsevier; 2010; Accessed 11/21/2013.
  • Piña-Garza JE. Lower Brainstem and Cranial Nerve Dysfunction. Fenichel's Clinical Pediatric Neurology, 7th ed. Philadelphia, PA: Saunders, An Imprint of Elsevier; 2013; Accessed 11/21/2013.
  • Murray B, Mitsumoto H. Disorders of Upper and Lower Motor Neurons. In: Daroff. Bradley's Neurology in Clinical Practice, 6th ed. Philadelphia, PA: Saunders, An Imprint of Elsevier; 2012; Accessed 11/21/2013.