Research on Pachygyria

POPULATION AND METHODS–The files of 17 patients (ten boys and seven girls), aged 7 months to 16 years, were retrospectively studied. The clinical picture consisted of mental retardation (17 patients), seizures (eight patients), facial dysmorphia (seven patients), axial hypotonia (four patients). CT scan was performed in 16 cases and MRI with T1 and T2 weighted images in all 17. RESULTS–The CT scan identified pachygyria in 12 cases. Cerebral calcifications were seen in four cases. MRI detected typical changes in all 17 cases: thickened cortex and gyri, loss of cortical white matter interdigitations, lack of operculisation of the sylvian fissure. Pachygyria was generalized (six patients) or localized (11 patients). Associated abnormalities were dysgenesis of corpus callosum in three patients, cerebellar hypoplasia in one, deep grey matter heterotopia in one; hypersignal of the white matter was identified on T2 weighted images in five patients. CONCLUSION–MR imaging permits precise analysis of abnormalities secondary to a defect in neuronal migration.

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Abstract : Agyria-pachygyria (lissencephaly syndrome)
K Jellinger, A Rett Neuropädiatrie. 03/1976; 7(1):66-91.
http://www.researchgate.net/publication/22165889_Agyria-pachygyria_(lissencephaly_syndrome)

Etiological factors of agyria-pachygyria may be both hereditary (familial lissencephaly-syndrome) and environmental ones (prenatal drug application or intrauterine perfusion disorders).

Cytoarchitectonic analysis of the agyric cortex suggests a disorder of neuronal migration during stage III of neocortex formation (Rakic and Sidman) between the 11th and 13th fetal week, while the pachygyric cortex showing the later formed layers II and IV presumable is caused by an attenuated and later disorder acting in early stage IV of neocortex formation, i. e. around or after the 13th fetal week.

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Abstract: The MR evaluation of pachygyria and associated syndromes
S E Byrd, R E Osborn, M A Radkowski
Department of Radiology, Children’s Memorial Hospital, Northwestern University Medical School, Chicago, IL.
European journal of radiology. 12(1):53-9.

http://www.researchgate.net/publication/21157224_The_MR_evaluation_of_pachygyria_and_associated_syndromes

A retrospective study of 40 children with some form of pachygyria was performed at the Children’s Memorial Hospital in Chicago. All 40 children had MR brain scans. We analyzed the MR findings, and correlated these findings with the clinical symptoms and course in all the children. We have autopsy findings in 15% these children. Based on our clinical, MR and autopsy findings, in conjunction with the medical literature, we found the following: (1) Pachygyria can occur as an isolated entity without an association with lissencephaly. The MR findings in these children consisted of a brain that demonstrated normal opercularization with either focal or diffuse areas of pachygyria without areas of agyria. These children live longer and have less severity of symptoms than the children with lissencephaly. (2) The MR findings in children with lissencephaly consisted of a brain that demonstrated abnormal opercularization with areas of total agyria or areas of agyria with pachygyria. (3) The MR findings in 25% of our children with polymicrogyria simulated pachygyria. The MR findings of the brain in these children consisted of a ‘nubby’ appearance to the outer surface of these abnormal gyri which resembled pachygyria but on histologic exam was polymicrogyria.
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Abstract: On pathology of the diffuse pachygyria (author’s transl)
R Goertchen
Zentralblatt für allgemeine Pathologie und pathologische Anatomie. 02/1975; 119(1-2):3-14.
http://www.researchgate.net/publication/21965322_On_pathology_of_the_diffuse_pachygyria_(author’s_transl)

Etiologic factors are intrauterine hypoxemia and infectious diseases during the early pregnancy period as well as hereditary afflictions.

FYI: Intrauterine hypoxemia is low oxygen levels to the fetus.
Infectious diseases- chicken pox, measles, mumps, flu colds.
Heredity afflictions would be changes in the DNA
Now someone could have a bad case of pneumonia during the early stages of pregnancy and end up with low oxygen to the fetus.

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Abstract: Bilateral posterior agyria-pachygyria and epilepsy
Roberto Horacio Caraballo, Ricardo Oscar Cersosimo, Alberto Espeche, Natalio Fejerman
Servicio de Neurologia, Hospital de niñfos Juan P. Garrahan, Combate de los Pozos 1181, CP 1245, Buenos Aires, Argentina.
Brain & development. 04/2003; 25(2):122-6.

http://www.researchgate.net/publication/10904555_Bilateral_posterior_agyria-pachygyria_and_epilepsy

We analyzed the electroclinical findings in two patients with bilateral posterior agyria-pachygyria. Both patients presented with mental retardation, mild motor deficit and epilepsy. The electroclinical findings were characterized by frequent tonic or atonic generalized seizures with occasionally simple or complex partial seizures. Interictal electroencephalography (EEG) showed occipital spikes and diffuse polyspike-wave paroxysms predominantly in the posterior region. Ictal EEG showed diffuse 10-11 Hz activity. Cerebral magnetic resonance imagings (MRIs) showed thickened cortex in the parieto-occipital lobes, bilaterally and symmetrically. The volume of underlying white matter appeared reduced, and the overlying subarachnoid spaces were enlarged. The occipital horns were dilated. These findings were compatible with agyria-pachygyria of the posterior portions of the brain.In conclusion, in patients with mental retardation, mild motor deficit and epilepsy characterized by tonic or atonic generalized seizures, interictal EEG with diffuse polyspike-wave paroxysms predominantly in posterior region, posterior focal epileptilorm abnormalities and ictal diffuse 10-11 Hz activity, bilateral parieto-occipital agyria-pachygyria should be considered as a possible etiology. Magnetic resonance image is the best neuroradiological study to identify this disorder of cortical development.

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Abstract: Stabilized epilepsy in three adult cases of pachygyria
C Gaultier, F Verhaegen, C Merzeau, G Angibaud
Service de neurologie du Centre hospitalier territorial de Nouvelle-Calédonie, Hôpital Gaston Bourret, Rue Paul Doumer, BP J5, 98849 Nouméa, Nouvelle-Calédonie.
Bulletin de la Société de pathologie exotique (1990). 12/2000; 93(4):260-2.

http://www.researchgate.net/publication/12125936_Stabilized_epilepsy_in_three_adult_cases_of_pachygyria

In complex malformations of the neocortex due to neuronal migration disorders, epilepsy is usually intractable and is observed in childhood. The study of such malformations in adults is rare. Three adult cases are described with easily treated epilepsy controlled by one or two anti-epilectic drugs. A brain CAT-scan of these three patients showed pachygyria (macrogyria) sometimes associated with other malformations and disorders of neurone migration. These three 28, 40 and 53 year-old-patients (one woman and two men) were mentally disturbed with complex neurological disturbances and confined to a wheelchair. Their epilepsy had began in childhood and stabilised as these patients became adults. We raised the question as to whether this is in fact the long-term outcome for epileptic patients with pachygyria. The outcome of such epilepsy due to pachygyria could be better than initially supposed.